Canonical Allele Identifier: CA363590738

Gene: TAP1 PSMB9

Linked Data

• gnomAD v4: 6-32847097-T-C
• MyVariant Identifiers: chr6:g.32814874T>C (hg19) ; chr6:g.32847097T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847097T>C , CM000668.2:g.32847097T>C	GRCh38
NC_000006.11:g.32814874T>C , CM000668.1:g.32814874T>C	GRCh37
NC_000006.10:g.32922852T>C	NCBI36
NG_011759.1:g.11875A>G
NG_028165.1:g.2839A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1163A>G (TAP1)	ENSP00000513708.1:n.*1163A>G
ENST00000698421.1:c.*905A>G (TAP1)	ENSP00000513709.1:n.*905A>G
ENST00000698422.1:c.1822A>G (TAP1)	ENSP00000513710.1:p.Ser608Gly
ENST00000698423.1:c.2011A>G (TAP1)	ENSP00000513711.1:p.Ser671Gly
ENST00000698424.1:c.1882A>G (TAP1)	ENSP00000513712.1:p.Ser628Gly
ENST00000354258.5:c.2011A>G (TAP1) MANE Select	ENSP00000346206.5:p.Ser671Gly
ENST00000643049.2:c.556A>G (TAP1)	ENSP00000494148.2:p.Ser186Gly
ENST00000643923.1:n.1447A>G (TAP1)
ENST00000645078.1:n.1606A>G (TAP1)
ENST00000354258.4:c.2191A>G (TAP1)	ENSP00000346206.4:p.Ser731Gly
ENST00000395330.5:c.-10+2823T>C (PSMB9)	ENSP00000378739.1:n.-10+2823T>C
ENST00000414474.5:c.-10+2227T>C (PSMB9)	ENSP00000394363.1:n.-10+2227T>C
ENST00000486332.1:n.1936A>G (TAP1)
ENST00000487296.1:n.891A>G (TAP1)
NM_000593.5:c.2191A>G (TAP1)	NP_000584.2:p.Ser731Gly
NM_001292022.1:c.1408A>G (TAP1)	NP_001278951.1:p.Ser470Gly
NM_001292022.2:c.1408A>G (TAP1)	NP_001278951.1:p.Ser470Gly
NM_000593.6:c.2011A>G (TAP1) MANE Select	NP_000584.3:p.Ser671Gly