Canonical Allele Identifier: CA449759865

Gene: TAP1 PSMB9

Linked Data

• dbSNP Id: rs1262216657
• gnomAD v3: 6-32847112-G-A
• gnomAD v4: 6-32847112-G-A
• MyVariant Identifiers: chr6:g.32814889G>A (hg19) ; chr6:g.32847112G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847112G>A , CM000668.2:g.32847112G>A	GRCh38
NC_000006.11:g.32814889G>A , CM000668.1:g.32814889G>A	GRCh37
NC_000006.10:g.32922867G>A	NCBI36
NG_011759.1:g.11860C>T
NG_028165.1:g.2824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1148C>T (TAP1)	ENSP00000513708.1:n.*1148C>T
ENST00000698421.1:c.*890C>T (TAP1)	ENSP00000513709.1:n.*890C>T
ENST00000698422.1:c.1807C>T (TAP1)	ENSP00000513710.1:p.Leu603=
ENST00000698423.1:c.1996C>T (TAP1)	ENSP00000513711.1:p.Leu666=
ENST00000698424.1:c.1867C>T (TAP1)	ENSP00000513712.1:p.Leu623=
ENST00000354258.5:c.1996C>T (TAP1) MANE Select	ENSP00000346206.5:p.Leu666=
ENST00000643049.2:c.541C>T (TAP1)	ENSP00000494148.2:p.Leu181=
ENST00000643923.1:n.1432C>T (TAP1)
ENST00000645078.1:n.1591C>T (TAP1)
ENST00000354258.4:c.2176C>T (TAP1)	ENSP00000346206.4:p.Leu726=
ENST00000395330.5:c.-10+2838G>A (PSMB9)	ENSP00000378739.1:n.-10+2838G>A
ENST00000414474.5:c.-10+2242G>A (PSMB9)	ENSP00000394363.1:n.-10+2242G>A
ENST00000486332.1:n.1921C>T (TAP1)
ENST00000487296.1:n.876C>T (TAP1)
NM_000593.5:c.2176C>T (TAP1)	NP_000584.2:p.Leu726=
NM_001292022.1:c.1393C>T (TAP1)	NP_001278951.1:p.Leu465=
NM_001292022.2:c.1393C>T (TAP1)	NP_001278951.1:p.Leu465=
NM_000593.6:c.1996C>T (TAP1) MANE Select	NP_000584.3:p.Leu666=