Canonical Allele Identifier: CA363590680

Gene: TAP1 PSMB9

Linked Data

• MyVariant Identifiers: chr6:g.32814848T>A (hg19) ; chr6:g.32847071T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847071T>A , CM000668.2:g.32847071T>A	GRCh38
NC_000006.11:g.32814848T>A , CM000668.1:g.32814848T>A	GRCh37
NC_000006.10:g.32922826T>A	NCBI36
NG_011759.1:g.11901A>T
NG_028165.1:g.2865A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1189A>T (TAP1)	ENSP00000513708.1:n.*1189A>T
ENST00000698421.1:c.*931A>T (TAP1)	ENSP00000513709.1:n.*931A>T
ENST00000698422.1:c.1848A>T (TAP1)	ENSP00000513710.1:p.Leu616Phe
ENST00000698423.1:c.2037A>T (TAP1)	ENSP00000513711.1:p.Leu679Phe
ENST00000698424.1:c.1908A>T (TAP1)	ENSP00000513712.1:p.Leu636Phe
ENST00000354258.5:c.2037A>T (TAP1) MANE Select	ENSP00000346206.5:p.Leu679Phe
ENST00000643049.2:c.582A>T (TAP1)	ENSP00000494148.2:p.Leu194Phe
ENST00000643923.1:n.1473A>T (TAP1)
ENST00000645078.1:n.1632A>T (TAP1)
ENST00000354258.4:c.2217A>T (TAP1)	ENSP00000346206.4:p.Leu739Phe
ENST00000395330.5:c.-10+2797T>A (PSMB9)	ENSP00000378739.1:n.-10+2797T>A
ENST00000414474.5:c.-10+2201T>A (PSMB9)	ENSP00000394363.1:n.-10+2201T>A
ENST00000486332.1:n.1962A>T (TAP1)
ENST00000487296.1:n.917A>T (TAP1)
NM_000593.5:c.2217A>T (TAP1)	NP_000584.2:p.Leu739Phe
NM_001292022.1:c.1434A>T (TAP1)	NP_001278951.1:p.Leu478Phe
NM_001292022.2:c.1434A>T (TAP1)	NP_001278951.1:p.Leu478Phe
NM_000593.6:c.2037A>T (TAP1) MANE Select	NP_000584.3:p.Leu679Phe