Canonical Allele Identifier: CA3746884

Gene: TAP1 PSMB9

Linked Data

• ClinVar Variation Id: 2977745
• ClinVar RCV Id: RCV003834343
• dbSNP Id: rs368862749
• ExAC: 6:32818778 G / C
• gnomAD v2: 6-32818778-G-C
• gnomAD v3: 6-32851001-G-C
• gnomAD v4: 6-32851001-G-C
• MyVariant Identifiers: chr6:g.32818778G>C (hg19) ; chr6:g.32851001G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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