Canonical Allele Identifier: CA363590701

Gene: TAP1 PSMB9

Linked Data

• gnomAD v4: 6-32847079-T-G
• MyVariant Identifiers: chr6:g.32814856T>G (hg19) ; chr6:g.32847079T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847079T>G , CM000668.2:g.32847079T>G	GRCh38
NC_000006.11:g.32814856T>G , CM000668.1:g.32814856T>G	GRCh37
NC_000006.10:g.32922834T>G	NCBI36
NG_011759.1:g.11893A>C
NG_028165.1:g.2857A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1181A>C (TAP1)	ENSP00000513708.1:n.*1181A>C
ENST00000698421.1:c.*923A>C (TAP1)	ENSP00000513709.1:n.*923A>C
ENST00000698422.1:c.1840A>C (TAP1)	ENSP00000513710.1:p.Ser614Arg
ENST00000698423.1:c.2029A>C (TAP1)	ENSP00000513711.1:p.Ser677Arg
ENST00000698424.1:c.1900A>C (TAP1)	ENSP00000513712.1:p.Ser634Arg
ENST00000354258.5:c.2029A>C (TAP1) MANE Select	ENSP00000346206.5:p.Ser677Arg
ENST00000643049.2:c.574A>C (TAP1)	ENSP00000494148.2:p.Ser192Arg
ENST00000643923.1:n.1465A>C (TAP1)
ENST00000645078.1:n.1624A>C (TAP1)
ENST00000354258.4:c.2209A>C (TAP1)	ENSP00000346206.4:p.Ser737Arg
ENST00000395330.5:c.-10+2805T>G (PSMB9)	ENSP00000378739.1:n.-10+2805T>G
ENST00000414474.5:c.-10+2209T>G (PSMB9)	ENSP00000394363.1:n.-10+2209T>G
ENST00000486332.1:n.1954A>C (TAP1)
ENST00000487296.1:n.909A>C (TAP1)
NM_000593.5:c.2209A>C (TAP1)	NP_000584.2:p.Ser737Arg
NM_001292022.1:c.1426A>C (TAP1)	NP_001278951.1:p.Ser476Arg
NM_001292022.2:c.1426A>C (TAP1)	NP_001278951.1:p.Ser476Arg
NM_000593.6:c.2029A>C (TAP1) MANE Select	NP_000584.3:p.Ser677Arg