Name Checker

Please insert a variant description using the HGVS format.

Examples: AB026906.1:c.40_42del, NG_012337.1(SDHD_v001):c.274G>T, LRG_24t1:c.159dup

Help

0 Errors, 0 Warnings.

Overview of the raw variants

Raw variant 1: substitution at 2123

GGACAAATAAAATCAAGGATGGGTA C TGGGACCCTGGTCCTCGAGCTGACC
GGACAAATAAAATCAAGGATGGGTA G TGGGACCCTGGTCCTCGAGCTGACC

View original variant in UCSC Genome Browser

Description relative to transcription start

(Not for use in LSDBs in case of protein-coding transcripts).

NM_005502.3:n.2123C>G

Affected transcripts - 1

NM_005502.3(ABCA1_v001):c.1719C>G

Affected proteins - 1

NM_005502.3(ABCA1_i001):p.(Tyr573*)

Reference protein

   1  MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE QHECHFPNKA
  61  MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS IVARLFSDAR RLLLYSQKDT
 121  SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD NETFSGFLYH NLSLPKSTVD KMLRADVILH
 181  KVFLQGYQLH LTSLCNGSKS EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL
 241  RTLNSTSPFP SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI
 301  YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS TTPYCNDLMK
 361  NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN KTFQELAVFH DLEGMWEELS
 421  PKIWTFMENS QEMDLVRMLL DSRDNDHFWE QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS
 481  VYTWREAFNE TNQAIRTISR FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG
 541  ITPGSIELPH HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV
 601  EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY SVAVIIKGIV
 661  YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL VVILKLGNLL PYSDPSVVFV
 721  FLSVFAVVTI LQCFLISTLF SRANLAAACG GIIYFTLYLP YVLCVAWQDY VGFTLKIFAS
 781  LLSPVAFGFG CEYFALFEEQ GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW
 841  YIEAVFPGQY GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEICMEE EPTHLKLGVS
 901  IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF PPTSGTAYIL
 961  GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL KGLSEKHVKA EMEQMALDVG
1021  LPSSKLKSKT SQLSGGMQRK LSVALAFVGG SKVVILDEPT AGVDPYSRRG IWELLLKYRQ
1081  GRTIILSTHH MDEADVLGDR IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS
1141  SCRNSSSTVS YLKKEDSVSQ SSSDAGLGSD HESDTLTIDV SAISNLIRKH VSEARLVEDI
1201  GHELTYVLPY EAAKEGAFVE LFHEIDDRLS DLGISSYGIS ETTLEEIFLK VAEESGVDAE
1261  TSDGTLPARR NRRAFGDKQS CLRPFTEDDA ADPNDSDIDP ESRETDLLSG MDGKGSYQVK
1321  GWKLTQQQFV ALLWKRLLIA RRSRKGFFAQ IVLPAVFVCI ALVFSLIVPP FGKYPSLELQ
1381  PWMYNEQYTF VSNDAPEDTG TLELLNALTK DPGFGTRCME GNPIPDTPCQ AGEEEWTTAP
1441  VPQTIMDLFQ NGNWTMQNPS PACQCSSDKI KKMLPVCPPG AGGLPPPQRK QNTADILQDL
1501  TGRNISDYLV KTYVQIIAKS LKNKIWVNEF RYGGFSLGVS NTQALPPSQE VNDAIKQMKK
1561  HLKLAKDSSA DRFLNSLGRF MTGLDTKNNV KVWFNNKGWH AISSFLNVIN NAILRANLQK
1621  GENPSHYGIT AFNHPLNLTK QQLSEVALMT TSVDVLVSIC VIFAMSFVPA SFVVFLIQER
1681  VSKAKHLQFI SGVKPVIYWL SNFVWDMCNY VVPATLVIII FICFQQKSYV SSTNLPVLAL
1741  LLLLYGWSIT PLMYPASFVF KIPSTAYVVL TSVNLFIGIN GSVATFVLEL FTDNKLNNIN
1801  DILKSVFLIF PHFCLGRGLI DMVKNQAMAD ALERFGENRF VSPLSWDLVG RNLFAMAVEG
1861  VVFFLITVLI QYRFFIRPRP VNAKLSPLND EDEDVRRERQ RILDGGGQND ILEIKELTKI
1921  YRRKRKPAVD RICVGIPPGE CFGLLGVNGA GKSSTFKMLT GDTTVTRGDA FLNKNSILSN
1981  IHEVHQNMGY CPQFDAITEL LTGREHVEFF ALLRGVPEKE VGKVGEWAIR KLGLVKYGEK
2041  YAGNYSGGNK RKLSTAMALI GGPPVVFLDE PTTGMDPKAR RFLWNCALSV VKEGRSVVLT
2101  SHSMEECEAL CTRMAIMVNG RFRCLGSVQH LKNRFGDGYT IVVRIAGSNP DLKPVQDFFG
2161  LAFPGSVLKE KHRNMLQYQL PSSLSSLARI FSILSQSKKR LHIEDYSVSQ TTLDQVFVNF
2221  AKDQSDDDHL KDLSLHKNQT VVDVAVLTSF LQDEKVKESY V*

Protein predicted from variant coding sequence

  1  MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE QHECHFPNKA
 61  MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS IVARLFSDAR RLLLYSQKDT
121  SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD NETFSGFLYH NLSLPKSTVD KMLRADVILH
181  KVFLQGYQLH LTSLCNGSKS EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL
241  RTLNSTSPFP SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI
301  YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS TTPYCNDLMK
361  NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN KTFQELAVFH DLEGMWEELS
421  PKIWTFMENS QEMDLVRMLL DSRDNDHFWE QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS
481  VYTWREAFNE TNQAIRTISR FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG
541  ITPGSIELPH HVKYKIRMDI DNVERTNKIK DG*

Effects on Restriction sites

Raw variant Created Deleted
1 BmrI, BsrI, CviQI, RsaI

Experimental services

Genomic description: 2123C>G

Exon information

Number Start (g.) Stop (g.) Start (c.) Stop (c.)
1 1 312 -404 -93
2 313 470 -92 66
3 471 564 67 160
4 565 706 161 302
5 707 825 303 421
6 826 947 422 543
7 948 1124 544 720
8 1125 1217 721 813
9 1218 1458 814 1054
10 1459 1598 1055 1194
11 1599 1715 1195 1311
12 1716 1913 1312 1509
13 1914 2119 1510 1715
14 2120 2296 1716 1892
15 2297 2519 1893 2115
16 2520 2741 2116 2337
17 2742 2946 2338 2542
18 2947 3060 2543 2656
19 3061 3232 2657 2828
20 3233 3364 2829 2960
21 3365 3507 2961 3103
22 3508 3645 3104 3241
23 3646 3866 3242 3462
24 3867 3939 3463 3535
25 3940 4142 3536 3738
26 4143 4191 3739 3787
27 4192 4305 3788 3901
28 4306 4454 3902 4050
29 4455 4579 4051 4175
30 4580 4678 4176 4274
31 4679 4868 4275 4464
32 4869 4963 4465 4559
33 4964 4996 4560 4592
34 4997 5102 4593 4698
35 5103 5177 4699 4773
36 5178 5347 4774 4943
37 5348 5525 4944 5121
38 5526 5641 5122 5237
39 5642 5786 5238 5382
40 5787 5910 5383 5506
41 5911 6040 5507 5636
42 6041 6161 5637 5757
43 6162 6224 5758 5820
44 6225 6331 5821 5927
45 6332 6473 5928 6069
46 6474 6608 6070 6204
47 6609 6712 6205 6308
48 6713 6805 6309 6401
49 6806 7049 6402 6645
50 7050 10503 6646 *3313

CDS information

g. c.
Start 405 1
Stop 7190 6786

Links

Download this reference sequence file: NM_005502.3.gb

Name ID Locus tag Product Link method
ABCA1_v001 NM_005502.3 exhaustion
ABCA1_i001 NP_005493.2 ATP-binding cassette sub-family A member 1 exhaustion

Link methods priorities order: protein (NCBI), locus tag, product tag, exhaustion, and construction.