Canonical Allele Identifier: CA566400182

Linked Data

dbSNP Id: rs1321305876
gnomAD v2: 6-32815029-A-G
gnomAD v3: 6-32847252-A-G
gnomAD v4: 6-32847252-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847252A>G , CM000668.2:g.32847252A>G GRCh38
NC_000006.11:g.32815029A>G , CM000668.1:g.32815029A>G GRCh37
NC_000006.10:g.32923007A>G NCBI36
NG_011759.1:g.11720T>C
NG_028165.1:g.2684T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1056-48T>C (TAP1) ENSP00000513708.1:n.*1056-48T>C
ENST00000698421.1:c.*798-48T>C (TAP1) ENSP00000513709.1:n.*798-48T>C
ENST00000698422.1:c.1715-48T>C (TAP1) ENSP00000513710.1:n.1715-48T>C
ENST00000698423.1:c.1904-48T>C (TAP1) ENSP00000513711.1:n.1904-48T>C
ENST00000698424.1:c.1775-48T>C (TAP1) ENSP00000513712.1:n.1775-48T>C
ENST00000354258.5:c.1904-48T>C (TAP1) MANE Select ENSP00000346206.5:n.1904-48T>C
ENST00000643049.2:c.449-48T>C (TAP1) ENSP00000494148.2:n.449-48T>C
ENST00000643923.1:n.1340-48T>C (TAP1)
ENST00000645078.1:n.1499-48T>C (TAP1)
ENST00000354258.4:c.2084-48T>C (TAP1) ENSP00000346206.4:n.2084-48T>C
ENST00000395330.5:c.-10+2978A>G (PSMB9) ENSP00000378739.1:n.-10+2978A>G
ENST00000414474.5:c.-10+2382A>G (PSMB9) ENSP00000394363.1:n.-10+2382A>G
ENST00000486332.1:n.1829-48T>C (TAP1)
ENST00000487296.1:n.736T>C (TAP1)
NM_000593.5:c.2084-48T>C (TAP1) NP_000584.2:n.2084-48T>C
NM_001292022.1:c.1301-48T>C (TAP1) NP_001278951.1:n.1301-48T>C
NM_001292022.2:c.1301-48T>C (TAP1) NP_001278951.1:n.1301-48T>C
NM_000593.6:c.1904-48T>C (TAP1) MANE Select NP_000584.3:n.1904-48T>C