Canonical Allele Identifier: CA137013116

Linked Data

dbSNP Id: rs866992619
gnomAD v2: 6-32814745-G-A
gnomAD v3: 6-32846968-G-A
gnomAD v4: 6-32846968-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32846968G>A , CM000668.2:g.32846968G>A GRCh38
NC_000006.11:g.32814745G>A , CM000668.1:g.32814745G>A GRCh37
NC_000006.10:g.32922723G>A NCBI36
NG_011759.1:g.12004C>T
NG_028165.1:g.2968C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1192+100C>T (TAP1) ENSP00000513708.1:n.*1192+100C>T
ENST00000698421.1:c.*934+100C>T (TAP1) ENSP00000513709.1:n.*934+100C>T
ENST00000698422.1:c.1851+100C>T (TAP1) ENSP00000513710.1:n.1851+100C>T
ENST00000698423.1:c.2040+100C>T (TAP1) ENSP00000513711.1:n.2040+100C>T
ENST00000698424.1:c.1911+100C>T (TAP1) ENSP00000513712.1:n.1911+100C>T
ENST00000354258.5:c.2040+100C>T (TAP1) MANE Select ENSP00000346206.5:n.2040+100C>T
ENST00000643049.2:c.585+100C>T (TAP1) ENSP00000494148.2:n.585+100C>T
ENST00000643923.1:n.1476+100C>T (TAP1)
ENST00000645078.1:n.1635+100C>T (TAP1)
ENST00000354258.4:c.2220+100C>T (TAP1) ENSP00000346206.4:n.2220+100C>T
ENST00000395330.5:c.-10+2694G>A (PSMB9) ENSP00000378739.1:n.-10+2694G>A
ENST00000414474.5:c.-10+2098G>A (PSMB9) ENSP00000394363.1:n.-10+2098G>A
ENST00000486332.1:n.1965+100C>T (TAP1)
ENST00000487296.1:n.920+100C>T (TAP1)
NM_000593.5:c.2220+100C>T (TAP1) NP_000584.2:n.2220+100C>T
NM_001292022.1:c.1437+100C>T (TAP1) NP_001278951.1:n.1437+100C>T
NM_001292022.2:c.1437+100C>T (TAP1) NP_001278951.1:n.1437+100C>T
NM_000593.6:c.2040+100C>T (TAP1) MANE Select NP_000584.3:n.2040+100C>T