Canonical Allele Identifier: CA363590716

Gene: TAP1 PSMB9

Linked Data

• gnomAD v4: 6-32847086-A-T
• MyVariant Identifiers: chr6:g.32814863A>T (hg19) ; chr6:g.32847086A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847086A>T , CM000668.2:g.32847086A>T	GRCh38
NC_000006.11:g.32814863A>T , CM000668.1:g.32814863A>T	GRCh37
NC_000006.10:g.32922841A>T	NCBI36
NG_011759.1:g.11886T>A
NG_028165.1:g.2850T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1174T>A (TAP1)	ENSP00000513708.1:n.*1174T>A
ENST00000698421.1:c.*916T>A (TAP1)	ENSP00000513709.1:n.*916T>A
ENST00000698422.1:c.1833T>A (TAP1)	ENSP00000513710.1:p.Asp611Glu
ENST00000698423.1:c.2022T>A (TAP1)	ENSP00000513711.1:p.Asp674Glu
ENST00000698424.1:c.1893T>A (TAP1)	ENSP00000513712.1:p.Asp631Glu
ENST00000354258.5:c.2022T>A (TAP1) MANE Select	ENSP00000346206.5:p.Asp674Glu
ENST00000643049.2:c.567T>A (TAP1)	ENSP00000494148.2:p.Asp189Glu
ENST00000643923.1:n.1458T>A (TAP1)
ENST00000645078.1:n.1617T>A (TAP1)
ENST00000354258.4:c.2202T>A (TAP1)	ENSP00000346206.4:p.Asp734Glu
ENST00000395330.5:c.-10+2812A>T (PSMB9)	ENSP00000378739.1:n.-10+2812A>T
ENST00000414474.5:c.-10+2216A>T (PSMB9)	ENSP00000394363.1:n.-10+2216A>T
ENST00000486332.1:n.1947T>A (TAP1)
ENST00000487296.1:n.902T>A (TAP1)
NM_000593.5:c.2202T>A (TAP1)	NP_000584.2:p.Asp734Glu
NM_001292022.1:c.1419T>A (TAP1)	NP_001278951.1:p.Asp473Glu
NM_001292022.2:c.1419T>A (TAP1)	NP_001278951.1:p.Asp473Glu
NM_000593.6:c.2022T>A (TAP1) MANE Select	NP_000584.3:p.Asp674Glu