Canonical Allele Identifier: CA363592960

Gene: TAP1 PSMB9

Linked Data

• dbSNP Id: rs1055816815
• gnomAD v4: 6-32851000-G-C
• MyVariant Identifiers: chr6:g.32818777G>C (hg19) ; chr6:g.32851000G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32851000G>C , CM000668.2:g.32851000G>C	GRCh38
NC_000006.11:g.32818777G>C , CM000668.1:g.32818777G>C	GRCh37
NC_000006.10:g.32926755G>C	NCBI36
NG_011759.1:g.7972C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*146C>G (TAP1)	ENSP00000513708.1:n.*146C>G
ENST00000698421.1:c.845-483C>G (TAP1)	ENSP00000513709.1:n.845-483C>G
ENST00000698422.1:c.994C>G (TAP1)	ENSP00000513710.1:p.Leu332Val
ENST00000698423.1:c.994C>G (TAP1)	ENSP00000513711.1:p.Leu332Val
ENST00000698424.1:c.994C>G (TAP1)	ENSP00000513712.1:p.Leu332Val
ENST00000354258.5:c.994C>G (TAP1) MANE Select	ENSP00000346206.5:p.Leu332Val
ENST00000643049.2:c.141+2496C>G (TAP1)	ENSP00000494148.2:n.141+2496C>G
ENST00000643923.1:n.430C>G (TAP1)
ENST00000645078.1:n.589C>G (TAP1)
ENST00000354258.4:c.1174C>G (TAP1)	ENSP00000346206.4:p.Leu392Val
ENST00000395330.5:c.-9-5138G>C (PSMB9)	ENSP00000378739.1:n.-9-5138G>C
ENST00000414474.5:c.-9-5138G>C (PSMB9)	ENSP00000394363.1:n.-9-5138G>C
NM_000593.5:c.1174C>G (TAP1)	NP_000584.2:p.Leu392Val
NM_001292022.1:c.391C>G (TAP1)	NP_001278951.1:p.Leu131Val
NM_001292022.2:c.391C>G (TAP1)	NP_001278951.1:p.Leu131Val
NM_000593.6:c.994C>G (TAP1) MANE Select	NP_000584.3:p.Leu332Val