Canonical Allele Identifier: CA3746609

Gene: TAP1 PSMB9

Linked Data

• dbSNP Id: rs745757676
• ExAC: 6:32814797 G / C
• gnomAD v2: 6-32814797-G-C
• gnomAD v4: 6-32847020-G-C
• MyVariant Identifiers: chr6:g.32814797G>C (hg19) ; chr6:g.32847020G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847020G>C , CM000668.2:g.32847020G>C	GRCh38
NC_000006.11:g.32814797G>C , CM000668.1:g.32814797G>C	GRCh37
NC_000006.10:g.32922775G>C	NCBI36
NG_011759.1:g.11952C>G
NG_028165.1:g.2916C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1192+48C>G (TAP1)	ENSP00000513708.1:n.*1192+48C>G
ENST00000698421.1:c.*934+48C>G (TAP1)	ENSP00000513709.1:n.*934+48C>G
ENST00000698422.1:c.1851+48C>G (TAP1)	ENSP00000513710.1:n.1851+48C>G
ENST00000698423.1:c.2040+48C>G (TAP1)	ENSP00000513711.1:n.2040+48C>G
ENST00000698424.1:c.1911+48C>G (TAP1)	ENSP00000513712.1:n.1911+48C>G
ENST00000354258.5:c.2040+48C>G (TAP1) MANE Select	ENSP00000346206.5:n.2040+48C>G
ENST00000643049.2:c.585+48C>G (TAP1)	ENSP00000494148.2:n.585+48C>G
ENST00000643923.1:n.1476+48C>G (TAP1)
ENST00000645078.1:n.1635+48C>G (TAP1)
ENST00000354258.4:c.2220+48C>G (TAP1)	ENSP00000346206.4:n.2220+48C>G
ENST00000395330.5:c.-10+2746G>C (PSMB9)	ENSP00000378739.1:n.-10+2746G>C
ENST00000414474.5:c.-10+2150G>C (PSMB9)	ENSP00000394363.1:n.-10+2150G>C
ENST00000486332.1:n.1965+48C>G (TAP1)
ENST00000487296.1:n.920+48C>G (TAP1)
NM_000593.5:c.2220+48C>G (TAP1)	NP_000584.2:n.2220+48C>G
NM_001292022.1:c.1437+48C>G (TAP1)	NP_001278951.1:n.1437+48C>G
NM_001292022.2:c.1437+48C>G (TAP1)	NP_001278951.1:n.1437+48C>G
NM_000593.6:c.2040+48C>G (TAP1) MANE Select	NP_000584.3:n.2040+48C>G