Canonical Allele Identifier: CA363592961

Gene: TAP1 PSMB9

Linked Data

• gnomAD v4: 6-32851002-G-A
• MyVariant Identifiers: chr6:g.32818779G>A (hg19) ; chr6:g.32851002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32851002G>A , CM000668.2:g.32851002G>A	GRCh38
NC_000006.11:g.32818779G>A , CM000668.1:g.32818779G>A	GRCh37
NC_000006.10:g.32926757G>A	NCBI36
NG_011759.1:g.7970C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698420.1:c.*144C>T (TAP1)	ENSP00000513708.1:n.*144C>T
ENST00000698421.1:c.845-485C>T (TAP1)	ENSP00000513709.1:n.845-485C>T
ENST00000698422.1:c.992C>T (TAP1)	ENSP00000513710.1:p.Thr331Ile
ENST00000698423.1:c.992C>T (TAP1)	ENSP00000513711.1:p.Thr331Ile
ENST00000698424.1:c.992C>T (TAP1)	ENSP00000513712.1:p.Thr331Ile
ENST00000354258.5:c.992C>T (TAP1) MANE Select	ENSP00000346206.5:p.Thr331Ile
ENST00000643049.2:c.141+2494C>T (TAP1)	ENSP00000494148.2:n.141+2494C>T
ENST00000643923.1:n.428C>T (TAP1)
ENST00000645078.1:n.587C>T (TAP1)
ENST00000354258.4:c.1172C>T (TAP1)	ENSP00000346206.4:p.Thr391Ile
ENST00000395330.5:c.-9-5136G>A (PSMB9)	ENSP00000378739.1:n.-9-5136G>A
ENST00000414474.5:c.-9-5136G>A (PSMB9)	ENSP00000394363.1:n.-9-5136G>A
NM_000593.5:c.1172C>T (TAP1)	NP_000584.2:p.Thr391Ile
NM_001292022.1:c.389C>T (TAP1)	NP_001278951.1:p.Thr130Ile
NM_001292022.2:c.389C>T (TAP1)	NP_001278951.1:p.Thr130Ile
NM_000593.6:c.992C>T (TAP1) MANE Select	NP_000584.3:p.Thr331Ile