Canonical Allele Identifier: CA449761058

Gene: TAP1 PSMB9

Linked Data

• dbSNP Id: rs368862749
• gnomAD v3: 6-32851001-G-T
• gnomAD v4: 6-32851001-G-T
• MyVariant Identifiers: chr6:g.32818778G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32851001G>T , CM000668.2:g.32851001G>T	GRCh38
NC_000006.11:g.32818778G>T , CM000668.1:g.32818778G>T	GRCh37
NC_000006.10:g.32926756G>T	NCBI36
NG_011759.1:g.7971C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698420.1:c.*145C>A (TAP1)	ENSP00000513708.1:n.*145C>A
ENST00000698421.1:c.845-484C>A (TAP1)	ENSP00000513709.1:n.845-484C>A
ENST00000698422.1:c.993C>A (TAP1)	ENSP00000513710.1:p.Thr331=
ENST00000698423.1:c.993C>A (TAP1)	ENSP00000513711.1:p.Thr331=
ENST00000698424.1:c.993C>A (TAP1)	ENSP00000513712.1:p.Thr331=
ENST00000354258.5:c.993C>A (TAP1) MANE Select	ENSP00000346206.5:p.Thr331=
ENST00000643049.2:c.141+2495C>A (TAP1)	ENSP00000494148.2:n.141+2495C>A
ENST00000643923.1:n.429C>A (TAP1)
ENST00000645078.1:n.588C>A (TAP1)
ENST00000354258.4:c.1173C>A (TAP1)	ENSP00000346206.4:p.Thr391=
ENST00000395330.5:c.-9-5137G>T (PSMB9)	ENSP00000378739.1:n.-9-5137G>T
ENST00000414474.5:c.-9-5137G>T (PSMB9)	ENSP00000394363.1:n.-9-5137G>T
NM_000593.5:c.1173C>A (TAP1)	NP_000584.2:p.Thr391=
NM_001292022.1:c.390C>A (TAP1)	NP_001278951.1:p.Thr130=
NM_001292022.2:c.390C>A (TAP1)	NP_001278951.1:p.Thr130=
NM_000593.6:c.993C>A (TAP1) MANE Select	NP_000584.3:p.Thr331=