Please insert a variant description using the HGVS format.
0 Errors, 0 Warnings.
Raw variant 1: substitution at 726
GACTTGGTACTGAGGAAGGCGCTGT T CAGCACGCTCAAGGAAACAGACACA
GACTTGGTACTGAGGAAGGCGCTGT C CAGCACGCTCAAGGAAACAGACACA
View original variant in UCSC Genome Browser
(Not for use in LSDBs in case of protein-coding transcripts).
NM_001270507.1(TNFAIP3_i001):p.(Phe127Ser)
1 MAEQVLPQAL YLSNMRKAVK IRERTPEDIF KPTNGIIHHF KTMHRYTLEM FRTCQFCPQF
61 REIIHKALID RNIQATLESQ KKLNWCREVR KLVALKTNGD GNCLMHATSQ YMWGVQDTDL
121 VLRKALFSTL KETDTRNFKF RWQLESLKSQ EFVETGLCYD TRNWNDEWDN LIKMASTDTP
181 MARSGLQYNS LEEIHIFVLC NILRRPIIVI SDKMLRSLES GSNFAPLKVG GIYLPLHWPA
241 QECYRYPIVL GYDSHHFVPL VTLKDSGPEI RAVPLVNRDR GRFEDLKVHF LTDPENEMKE
301 KLLKEYLMVI EIPVQGWDHG TTHLINAAKL DEANLPKEIN LVDDYFELVQ HEYKKWQENS
361 EQGRREGHAQ NPMEPSVPQL SLMDVKCETP NCPFFMSVNT QPLCHECSER RQKNQNKLPK
421 LNSKPGPEGL PGMALGASRG EAYEPLAWNP EESTGGPHSA PPTAPSPFLF SETTAMKCRS
481 PGCPFTLNVQ HNGFCERCHN ARQLHASHAP DHTRHLDPGK CQACLQDVTR TFNGICSTCF
541 KRTTAEASSS LSTSLPPSCH QRSKSDPSRL VRSPSPHSCH RAGNDAPAGC LSQAARTPGD
601 RTGTSKCRKA GCVYFGTPEN KGFCTLCFIE YRENKHFAAA SGKVSPTASR FQNTIPCLGR
661 ECGTLGSTMF EGYCQKCFIE AQNQRFHEAK RTEEQLRSSQ RRDVPRTTQS TSRPKCARAS
721 CKNILACRSE ELCMECQHPN QRMGPGAHRG EPAPEDPPKQ RCRAPACDHF GNAKCNGYCN
781 ECFQFKQMYG *
1 MAEQVLPQAL YLSNMRKAVK IRERTPEDIF KPTNGIIHHF KTMHRYTLEM FRTCQFCPQF
61 REIIHKALID RNIQATLESQ KKLNWCREVR KLVALKTNGD GNCLMHATSQ YMWGVQDTDL
121 VLRKALSSTL KETDTRNFKF RWQLESLKSQ EFVETGLCYD TRNWNDEWDN LIKMASTDTP
181 MARSGLQYNS LEEIHIFVLC NILRRPIIVI SDKMLRSLES GSNFAPLKVG GIYLPLHWPA
241 QECYRYPIVL GYDSHHFVPL VTLKDSGPEI RAVPLVNRDR GRFEDLKVHF LTDPENEMKE
301 KLLKEYLMVI EIPVQGWDHG TTHLINAAKL DEANLPKEIN LVDDYFELVQ HEYKKWQENS
361 EQGRREGHAQ NPMEPSVPQL SLMDVKCETP NCPFFMSVNT QPLCHECSER RQKNQNKLPK
421 LNSKPGPEGL PGMALGASRG EAYEPLAWNP EESTGGPHSA PPTAPSPFLF SETTAMKCRS
481 PGCPFTLNVQ HNGFCERCHN ARQLHASHAP DHTRHLDPGK CQACLQDVTR TFNGICSTCF
541 KRTTAEASSS LSTSLPPSCH QRSKSDPSRL VRSPSPHSCH RAGNDAPAGC LSQAARTPGD
601 RTGTSKCRKA GCVYFGTPEN KGFCTLCFIE YRENKHFAAA SGKVSPTASR FQNTIPCLGR
661 ECGTLGSTMF EGYCQKCFIE AQNQRFHEAK RTEEQLRSSQ RRDVPRTTQS TSRPKCARAS
721 CKNILACRSE ELCMECQHPN QRMGPGAHRG EPAPEDPPKQ RCRAPACDHF GNAKCNGYCN
781 ECFQFKQMYG *
Raw variant | Created | Deleted |
---|---|---|
1 | LpnPI |
Genomic description: 726T>C
Number | Start (g.) | Stop (g.) | Start (c.) | Stop (c.) |
---|---|---|---|---|
1 | 1 | 331 | -346 | -16 |
2 | 332 | 641 | -15 | 295 |
3 | 642 | 832 | 296 | 486 |
4 | 833 | 980 | 487 | 634 |
5 | 981 | 1151 | 635 | 805 |
6 | 1152 | 1332 | 806 | 986 |
7 | 1333 | 2252 | 987 | 1906 |
8 | 2253 | 2434 | 1907 | 2088 |
9 | 2435 | 4714 | 2089 | *1995 |
g. | c. | |
---|---|---|
Start | 347 | 1 |
Stop | 2719 | 2373 |
Download this reference sequence file: NM_001270507.1.gb
Name | ID | Locus tag | Product | Link method |
---|---|---|---|---|
TNFAIP3_v001 | NM_001270507.1 | exhaustion | ||
TNFAIP3_i001 | NP_001257436.1 | tumor necrosis factor alpha-induced protein 3 | exhaustion |
Link methods priorities order: protein (NCBI), locus tag, product tag, exhaustion, and construction.