Canonical Allele Identifier: CA3746881

Gene: TAP1 PSMB9

Linked Data

• dbSNP Id: rs752671881
• ExAC: 6:32818766 C / T
• gnomAD v2: 6-32818766-C-T
• gnomAD v4: 6-32850989-C-T
• MyVariant Identifiers: chr6:g.32818766C>T (hg19) ; chr6:g.32850989C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32850989C>T , CM000668.2:g.32850989C>T	GRCh38
NC_000006.11:g.32818766C>T , CM000668.1:g.32818766C>T	GRCh37
NC_000006.10:g.32926744C>T	NCBI36
NG_011759.1:g.7983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*157G>A (TAP1)	ENSP00000513708.1:n.*157G>A
ENST00000698421.1:c.845-472G>A (TAP1)	ENSP00000513709.1:n.845-472G>A
ENST00000698422.1:c.1005G>A (TAP1)	ENSP00000513710.1:p.Leu335=
ENST00000698423.1:c.1005G>A (TAP1)	ENSP00000513711.1:p.Leu335=
ENST00000698424.1:c.1005G>A (TAP1)	ENSP00000513712.1:p.Leu335=
ENST00000354258.5:c.1005G>A (TAP1) MANE Select	ENSP00000346206.5:p.Leu335=
ENST00000643049.2:c.141+2507G>A (TAP1)	ENSP00000494148.2:n.141+2507G>A
ENST00000643923.1:n.441G>A (TAP1)
ENST00000645078.1:n.600G>A (TAP1)
ENST00000354258.4:c.1185G>A (TAP1)	ENSP00000346206.4:p.Leu395=
ENST00000395330.5:c.-9-5149C>T (PSMB9)	ENSP00000378739.1:n.-9-5149C>T
ENST00000414474.5:c.-9-5149C>T (PSMB9)	ENSP00000394363.1:n.-9-5149C>T
NM_000593.5:c.1185G>A (TAP1)	NP_000584.2:p.Leu395=
NM_001292022.1:c.402G>A (TAP1)	NP_001278951.1:p.Leu134=
NM_001292022.2:c.402G>A (TAP1)	NP_001278951.1:p.Leu134=
NM_000593.6:c.1005G>A (TAP1) MANE Select	NP_000584.3:p.Leu335=