Canonical Allele Identifier: CA3746619

Gene: TAP1 PSMB9

Linked Data

• dbSNP Id: rs765832351
• ExAC: 6:32814854 G / T
• gnomAD v2: 6-32814854-G-T
• gnomAD v4: 6-32847077-G-T
• MyVariant Identifiers: chr6:g.32814854G>T (hg19) ; chr6:g.32847077G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847077G>T , CM000668.2:g.32847077G>T	GRCh38
NC_000006.11:g.32814854G>T , CM000668.1:g.32814854G>T	GRCh37
NC_000006.10:g.32922832G>T	NCBI36
NG_011759.1:g.11895C>A
NG_028165.1:g.2859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1183C>A (TAP1)	ENSP00000513708.1:n.*1183C>A
ENST00000698421.1:c.*925C>A (TAP1)	ENSP00000513709.1:n.*925C>A
ENST00000698422.1:c.1842C>A (TAP1)	ENSP00000513710.1:p.Ser614Arg
ENST00000698423.1:c.2031C>A (TAP1)	ENSP00000513711.1:p.Ser677Arg
ENST00000698424.1:c.1902C>A (TAP1)	ENSP00000513712.1:p.Ser634Arg
ENST00000354258.5:c.2031C>A (TAP1) MANE Select	ENSP00000346206.5:p.Ser677Arg
ENST00000643049.2:c.576C>A (TAP1)	ENSP00000494148.2:p.Ser192Arg
ENST00000643923.1:n.1467C>A (TAP1)
ENST00000645078.1:n.1626C>A (TAP1)
ENST00000354258.4:c.2211C>A (TAP1)	ENSP00000346206.4:p.Ser737Arg
ENST00000395330.5:c.-10+2803G>T (PSMB9)	ENSP00000378739.1:n.-10+2803G>T
ENST00000414474.5:c.-10+2207G>T (PSMB9)	ENSP00000394363.1:n.-10+2207G>T
ENST00000486332.1:n.1956C>A (TAP1)
ENST00000487296.1:n.911C>A (TAP1)
NM_000593.5:c.2211C>A (TAP1)	NP_000584.2:p.Ser737Arg
NM_001292022.1:c.1428C>A (TAP1)	NP_001278951.1:p.Ser476Arg
NM_001292022.2:c.1428C>A (TAP1)	NP_001278951.1:p.Ser476Arg
NM_000593.6:c.2031C>A (TAP1) MANE Select	NP_000584.3:p.Ser677Arg