Canonical Allele Identifier: CA566400124

Linked Data

dbSNP Id: rs1453134598
gnomAD v2: 6-32814752-T-C
gnomAD v3: 6-32846975-T-C
gnomAD v4: 6-32846975-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32846975T>C , CM000668.2:g.32846975T>C GRCh38
NC_000006.11:g.32814752T>C , CM000668.1:g.32814752T>C GRCh37
NC_000006.10:g.32922730T>C NCBI36
NG_011759.1:g.11997A>G
NG_028165.1:g.2961A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1192+93A>G (TAP1) ENSP00000513708.1:n.*1192+93A>G
ENST00000698421.1:c.*934+93A>G (TAP1) ENSP00000513709.1:n.*934+93A>G
ENST00000698422.1:c.1851+93A>G (TAP1) ENSP00000513710.1:n.1851+93A>G
ENST00000698423.1:c.2040+93A>G (TAP1) ENSP00000513711.1:n.2040+93A>G
ENST00000698424.1:c.1911+93A>G (TAP1) ENSP00000513712.1:n.1911+93A>G
ENST00000354258.5:c.2040+93A>G (TAP1) MANE Select ENSP00000346206.5:n.2040+93A>G
ENST00000643049.2:c.585+93A>G (TAP1) ENSP00000494148.2:n.585+93A>G
ENST00000643923.1:n.1476+93A>G (TAP1)
ENST00000645078.1:n.1635+93A>G (TAP1)
ENST00000354258.4:c.2220+93A>G (TAP1) ENSP00000346206.4:n.2220+93A>G
ENST00000395330.5:c.-10+2701T>C (PSMB9) ENSP00000378739.1:n.-10+2701T>C
ENST00000414474.5:c.-10+2105T>C (PSMB9) ENSP00000394363.1:n.-10+2105T>C
ENST00000486332.1:n.1965+93A>G (TAP1)
ENST00000487296.1:n.920+93A>G (TAP1)
NM_000593.5:c.2220+93A>G (TAP1) NP_000584.2:n.2220+93A>G
NM_001292022.1:c.1437+93A>G (TAP1) NP_001278951.1:n.1437+93A>G
NM_001292022.2:c.1437+93A>G (TAP1) NP_001278951.1:n.1437+93A>G
NM_000593.6:c.2040+93A>G (TAP1) MANE Select NP_000584.3:n.2040+93A>G