Canonical Allele Identifier: CA363590689

Gene: TAP1 PSMB9

Linked Data

• MyVariant Identifiers: chr6:g.32814852T>A (hg19) ; chr6:g.32847075T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847075T>A , CM000668.2:g.32847075T>A	GRCh38
NC_000006.11:g.32814852T>A , CM000668.1:g.32814852T>A	GRCh37
NC_000006.10:g.32922830T>A	NCBI36
NG_011759.1:g.11897A>T
NG_028165.1:g.2861A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1185A>T (TAP1)	ENSP00000513708.1:n.*1185A>T
ENST00000698421.1:c.*927A>T (TAP1)	ENSP00000513709.1:n.*927A>T
ENST00000698422.1:c.1844A>T (TAP1)	ENSP00000513710.1:p.Gln615Leu
ENST00000698423.1:c.2033A>T (TAP1)	ENSP00000513711.1:p.Gln678Leu
ENST00000698424.1:c.1904A>T (TAP1)	ENSP00000513712.1:p.Gln635Leu
ENST00000354258.5:c.2033A>T (TAP1) MANE Select	ENSP00000346206.5:p.Gln678Leu
ENST00000643049.2:c.578A>T (TAP1)	ENSP00000494148.2:p.Gln193Leu
ENST00000643923.1:n.1469A>T (TAP1)
ENST00000645078.1:n.1628A>T (TAP1)
ENST00000354258.4:c.2213A>T (TAP1)	ENSP00000346206.4:p.Gln738Leu
ENST00000395330.5:c.-10+2801T>A (PSMB9)	ENSP00000378739.1:n.-10+2801T>A
ENST00000414474.5:c.-10+2205T>A (PSMB9)	ENSP00000394363.1:n.-10+2205T>A
ENST00000486332.1:n.1958A>T (TAP1)
ENST00000487296.1:n.913A>T (TAP1)
NM_000593.5:c.2213A>T (TAP1)	NP_000584.2:p.Gln738Leu
NM_001292022.1:c.1430A>T (TAP1)	NP_001278951.1:p.Gln477Leu
NM_001292022.2:c.1430A>T (TAP1)	NP_001278951.1:p.Gln477Leu
NM_000593.6:c.2033A>T (TAP1) MANE Select	NP_000584.3:p.Gln678Leu