Canonical Allele Identifier: CA363590714

Gene: TAP1 PSMB9

Linked Data

• dbSNP Id: rs1323593978
• gnomAD v2: 6-32814862-C-T
• gnomAD v4: 6-32847085-C-T
• MyVariant Identifiers: chr6:g.32814862C>T (hg19) ; chr6:g.32847085C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847085C>T , CM000668.2:g.32847085C>T	GRCh38
NC_000006.11:g.32814862C>T , CM000668.1:g.32814862C>T	GRCh37
NC_000006.10:g.32922840C>T	NCBI36
NG_011759.1:g.11887G>A
NG_028165.1:g.2851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1175G>A (TAP1)	ENSP00000513708.1:n.*1175G>A
ENST00000698421.1:c.*917G>A (TAP1)	ENSP00000513709.1:n.*917G>A
ENST00000698422.1:c.1834G>A (TAP1)	ENSP00000513710.1:p.Ala612Thr
ENST00000698423.1:c.2023G>A (TAP1)	ENSP00000513711.1:p.Ala675Thr
ENST00000698424.1:c.1894G>A (TAP1)	ENSP00000513712.1:p.Ala632Thr
ENST00000354258.5:c.2023G>A (TAP1) MANE Select	ENSP00000346206.5:p.Ala675Thr
ENST00000643049.2:c.568G>A (TAP1)	ENSP00000494148.2:p.Ala190Thr
ENST00000643923.1:n.1459G>A (TAP1)
ENST00000645078.1:n.1618G>A (TAP1)
ENST00000354258.4:c.2203G>A (TAP1)	ENSP00000346206.4:p.Ala735Thr
ENST00000395330.5:c.-10+2811C>T (PSMB9)	ENSP00000378739.1:n.-10+2811C>T
ENST00000414474.5:c.-10+2215C>T (PSMB9)	ENSP00000394363.1:n.-10+2215C>T
ENST00000486332.1:n.1948G>A (TAP1)
ENST00000487296.1:n.903G>A (TAP1)
NM_000593.5:c.2203G>A (TAP1)	NP_000584.2:p.Ala735Thr
NM_001292022.1:c.1420G>A (TAP1)	NP_001278951.1:p.Ala474Thr
NM_001292022.2:c.1420G>A (TAP1)	NP_001278951.1:p.Ala474Thr
NM_000593.6:c.2023G>A (TAP1) MANE Select	NP_000584.3:p.Ala675Thr