Canonical Allele Identifier: CA449759832

Gene: TAP1 PSMB9

Linked Data

• dbSNP Id: rs752253839
• gnomAD v3: 6-32847091-G-A
• gnomAD v4: 6-32847091-G-A
• MyVariant Identifiers: chr6:g.32814868G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847091G>A , CM000668.2:g.32847091G>A	GRCh38
NC_000006.11:g.32814868G>A , CM000668.1:g.32814868G>A	GRCh37
NC_000006.10:g.32922846G>A	NCBI36
NG_011759.1:g.11881C>T
NG_028165.1:g.2845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1169C>T (TAP1)	ENSP00000513708.1:n.*1169C>T
ENST00000698421.1:c.*911C>T (TAP1)	ENSP00000513709.1:n.*911C>T
ENST00000698422.1:c.1828C>T (TAP1)	ENSP00000513710.1:p.Leu610=
ENST00000698423.1:c.2017C>T (TAP1)	ENSP00000513711.1:p.Leu673=
ENST00000698424.1:c.1888C>T (TAP1)	ENSP00000513712.1:p.Leu630=
ENST00000354258.5:c.2017C>T (TAP1) MANE Select	ENSP00000346206.5:p.Leu673=
ENST00000643049.2:c.562C>T (TAP1)	ENSP00000494148.2:p.Leu188=
ENST00000643923.1:n.1453C>T (TAP1)
ENST00000645078.1:n.1612C>T (TAP1)
ENST00000354258.4:c.2197C>T (TAP1)	ENSP00000346206.4:p.Leu733=
ENST00000395330.5:c.-10+2817G>A (PSMB9)	ENSP00000378739.1:n.-10+2817G>A
ENST00000414474.5:c.-10+2221G>A (PSMB9)	ENSP00000394363.1:n.-10+2221G>A
ENST00000486332.1:n.1942C>T (TAP1)
ENST00000487296.1:n.897C>T (TAP1)
NM_000593.5:c.2197C>T (TAP1)	NP_000584.2:p.Leu733=
NM_001292022.1:c.1414C>T (TAP1)	NP_001278951.1:p.Leu472=
NM_001292022.2:c.1414C>T (TAP1)	NP_001278951.1:p.Leu472=
NM_000593.6:c.2017C>T (TAP1) MANE Select	NP_000584.3:p.Leu673=