Canonical Allele Identifier: CA449759970

Gene: TAP1 PSMB9

Linked Data

• dbSNP Id: rs1476561781
• gnomAD v2: 6-32814980-C-T
• MyVariant Identifiers: chr6:g.32814980C>T (hg19) ; chr6:g.32847203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847203C>T , CM000668.2:g.32847203C>T	GRCh38
NC_000006.11:g.32814980C>T , CM000668.1:g.32814980C>T	GRCh37
NC_000006.10:g.32922958C>T	NCBI36
NG_011759.1:g.11769G>A
NG_028165.1:g.2733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1057G>A (TAP1)	ENSP00000513708.1:n.*1057G>A
ENST00000698421.1:c.*799G>A (TAP1)	ENSP00000513709.1:n.*799G>A
ENST00000698422.1:c.1716G>A (TAP1)	ENSP00000513710.1:p.Glu572=
ENST00000698423.1:c.1905G>A (TAP1)	ENSP00000513711.1:p.Glu635=
ENST00000698424.1:c.1776G>A (TAP1)	ENSP00000513712.1:p.Glu592=
ENST00000354258.5:c.1905G>A (TAP1) MANE Select	ENSP00000346206.5:p.Glu635=
ENST00000643049.2:c.450G>A (TAP1)	ENSP00000494148.2:p.Glu150=
ENST00000643923.1:n.1341G>A (TAP1)
ENST00000645078.1:n.1500G>A (TAP1)
ENST00000354258.4:c.2085G>A (TAP1)	ENSP00000346206.4:p.Glu695=
ENST00000395330.5:c.-10+2929C>T (PSMB9)	ENSP00000378739.1:n.-10+2929C>T
ENST00000414474.5:c.-10+2333C>T (PSMB9)	ENSP00000394363.1:n.-10+2333C>T
ENST00000486332.1:n.1830G>A (TAP1)
ENST00000487296.1:n.785G>A (TAP1)
NM_000593.5:c.2085G>A (TAP1)	NP_000584.2:p.Glu695=
NM_001292022.1:c.1302G>A (TAP1)	NP_001278951.1:p.Glu434=
NM_001292022.2:c.1302G>A (TAP1)	NP_001278951.1:p.Glu434=
NM_000593.6:c.1905G>A (TAP1) MANE Select	NP_000584.3:p.Glu635=