Canonical Allele Identifier: CA123403
Gene: TAP1 HGNC NCBI
PSMB9 HGNC NCBI
COSMIC:
COSM4419967 (not active)
MyVariant.info:
GRCh38 chr6:g.32850997T>C
GRCh37 chr6:g.32818774T>C
Revel Score:
ENST00000354258 (MANE Select) 0.156
ENST00000425148 0.156
gnomAD v2:
6:32818774 T / C
gnomAD v3:
6:32850997 T / C
gnomAD v4:
chr6-32850997-T-C
Joint Max Group AF 0.27261418 (SAS)
Genomes Max Group AF 0.25667999 (AFR)
Exomes Max Group AF 0.27291172 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32850997T>C , CM000668.2:g.32850997T>C GRCh38
NC_000006.11:g.32818774T>C , CM000668.1:g.32818774T>C GRCh37
NC_000006.10:g.32926752T>C NCBI36
NG_011759.1:g.7975A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*149A>G (TAP1) ENSP00000513708.1:n.*149A>G
ENST00000698421.1:c.845-480A>G (TAP1) ENSP00000513709.1:n.845-480A>G
ENST00000698422.1:c.997A>G (TAP1) ENSP00000513710.1:p.Ile333Val
ENST00000698423.1:c.997A>G (TAP1) ENSP00000513711.1:p.Ile333Val
ENST00000698424.1:c.997A>G (TAP1) ENSP00000513712.1:p.Ile333Val
ENST00000354258.5:c.997A>G (TAP1) MANE Select ENSP00000346206.5:p.Ile333Val
ENST00000643049.2:c.141+2499A>G (TAP1) ENSP00000494148.2:n.141+2499A>G
ENST00000643923.1:n.433A>G (TAP1)
ENST00000645078.1:n.592A>G (TAP1)
ENST00000354258.4:c.1177A>G (TAP1) ENSP00000346206.4:p.Ile393Val
ENST00000395330.5:c.-9-5141T>C (PSMB9) ENSP00000378739.1:n.-9-5141T>C
ENST00000414474.5:c.-9-5141T>C (PSMB9) ENSP00000394363.1:n.-9-5141T>C
NM_000593.5:c.1177A>G (TAP1) NP_000584.2:p.Ile393Val
NM_001292022.1:c.394A>G (TAP1) NP_001278951.1:p.Ile132Val
NM_001292022.2:c.394A>G (TAP1) NP_001278951.1:p.Ile132Val
NM_000593.6:c.997A>G (TAP1) MANE Select NP_000584.3:p.Ile333Val
Search 100 bp 5'
Search 100 bp 3'