Canonical Allele Identifier: CA137016536

Gene: TAP1 PSMB9

Linked Data

• dbSNP Id: rs984957026
• gnomAD v3: 6-32850897-C-G
• gnomAD v4: 6-32850897-C-G
• MyVariant Identifiers: chr6:g.32818674C>G (hg19) ; chr6:g.32850897C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32850897C>G , CM000668.2:g.32850897C>G	GRCh38
NC_000006.11:g.32818674C>G , CM000668.1:g.32818674C>G	GRCh37
NC_000006.10:g.32926652C>G	NCBI36
NG_011759.1:g.8075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*202+47G>C (TAP1)	ENSP00000513708.1:n.*202+47G>C
ENST00000698421.1:c.845-380G>C (TAP1)	ENSP00000513709.1:n.845-380G>C
ENST00000698422.1:c.1050+47G>C (TAP1)	ENSP00000513710.1:n.1050+47G>C
ENST00000698423.1:c.1050+47G>C (TAP1)	ENSP00000513711.1:n.1050+47G>C
ENST00000698424.1:c.1050+47G>C (TAP1)	ENSP00000513712.1:n.1050+47G>C
ENST00000354258.5:c.1050+47G>C (TAP1) MANE Select	ENSP00000346206.5:n.1050+47G>C
ENST00000643049.2:c.141+2599G>C (TAP1)	ENSP00000494148.2:n.141+2599G>C
ENST00000643923.1:n.486+47G>C (TAP1)
ENST00000645078.1:n.645+47G>C (TAP1)
ENST00000354258.4:c.1230+47G>C (TAP1)	ENSP00000346206.4:n.1230+47G>C
ENST00000395330.5:c.-9-5241C>G (PSMB9)	ENSP00000378739.1:n.-9-5241C>G
ENST00000414474.5:c.-9-5241C>G (PSMB9)	ENSP00000394363.1:n.-9-5241C>G
NM_000593.5:c.1230+47G>C (TAP1)	NP_000584.2:n.1230+47G>C
NM_001292022.1:c.447+47G>C (TAP1)	NP_001278951.1:n.447+47G>C
NM_001292022.2:c.447+47G>C (TAP1)	NP_001278951.1:n.447+47G>C
NM_000593.6:c.1050+47G>C (TAP1) MANE Select	NP_000584.3:n.1050+47G>C