Canonical Allele Identifier: CA363590747

Gene: TAP1 PSMB9

Linked Data

• gnomAD v4: 6-32847102-G-A
• MyVariant Identifiers: chr6:g.32814879G>A (hg19) ; chr6:g.32847102G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847102G>A , CM000668.2:g.32847102G>A	GRCh38
NC_000006.11:g.32814879G>A , CM000668.1:g.32814879G>A	GRCh37
NC_000006.10:g.32922857G>A	NCBI36
NG_011759.1:g.11870C>T
NG_028165.1:g.2834C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1158C>T (TAP1)	ENSP00000513708.1:n.*1158C>T
ENST00000698421.1:c.*900C>T (TAP1)	ENSP00000513709.1:n.*900C>T
ENST00000698422.1:c.1817C>T (TAP1)	ENSP00000513710.1:p.Ala606Val
ENST00000698423.1:c.2006C>T (TAP1)	ENSP00000513711.1:p.Ala669Val
ENST00000698424.1:c.1877C>T (TAP1)	ENSP00000513712.1:p.Ala626Val
ENST00000354258.5:c.2006C>T (TAP1) MANE Select	ENSP00000346206.5:p.Ala669Val
ENST00000643049.2:c.551C>T (TAP1)	ENSP00000494148.2:p.Ala184Val
ENST00000643923.1:n.1442C>T (TAP1)
ENST00000645078.1:n.1601C>T (TAP1)
ENST00000354258.4:c.2186C>T (TAP1)	ENSP00000346206.4:p.Ala729Val
ENST00000395330.5:c.-10+2828G>A (PSMB9)	ENSP00000378739.1:n.-10+2828G>A
ENST00000414474.5:c.-10+2232G>A (PSMB9)	ENSP00000394363.1:n.-10+2232G>A
ENST00000486332.1:n.1931C>T (TAP1)
ENST00000487296.1:n.886C>T (TAP1)
NM_000593.5:c.2186C>T (TAP1)	NP_000584.2:p.Ala729Val
NM_001292022.1:c.1403C>T (TAP1)	NP_001278951.1:p.Ala468Val
NM_001292022.2:c.1403C>T (TAP1)	NP_001278951.1:p.Ala468Val
NM_000593.6:c.2006C>T (TAP1) MANE Select	NP_000584.3:p.Ala669Val