Canonical Allele Identifier: CA363590727

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847093G>C , CM000668.2:g.32847093G>C GRCh38
NC_000006.11:g.32814870G>C , CM000668.1:g.32814870G>C GRCh37
NC_000006.10:g.32922848G>C NCBI36
NG_011759.1:g.11879C>G
NG_028165.1:g.2843C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1167C>G (TAP1) ENSP00000513708.1:n.*1167C>G
ENST00000698421.1:c.*909C>G (TAP1) ENSP00000513709.1:n.*909C>G
ENST00000698422.1:c.1826C>G (TAP1) ENSP00000513710.1:p.Ala609Gly
ENST00000698423.1:c.2015C>G (TAP1) ENSP00000513711.1:p.Ala672Gly
ENST00000698424.1:c.1886C>G (TAP1) ENSP00000513712.1:p.Ala629Gly
ENST00000354258.5:c.2015C>G (TAP1) MANE Select ENSP00000346206.5:p.Ala672Gly
ENST00000643049.2:c.560C>G (TAP1) ENSP00000494148.2:p.Ala187Gly
ENST00000643923.1:n.1451C>G (TAP1)
ENST00000645078.1:n.1610C>G (TAP1)
ENST00000354258.4:c.2195C>G (TAP1) ENSP00000346206.4:p.Ala732Gly
ENST00000395330.5:c.-10+2819G>C (PSMB9) ENSP00000378739.1:n.-10+2819G>C
ENST00000414474.5:c.-10+2223G>C (PSMB9) ENSP00000394363.1:n.-10+2223G>C
ENST00000486332.1:n.1940C>G (TAP1)
ENST00000487296.1:n.895C>G (TAP1)
NM_000593.5:c.2195C>G (TAP1) NP_000584.2:p.Ala732Gly
NM_001292022.1:c.1412C>G (TAP1) NP_001278951.1:p.Ala471Gly
NM_001292022.2:c.1412C>G (TAP1) NP_001278951.1:p.Ala471Gly
NM_000593.6:c.2015C>G (TAP1) MANE Select NP_000584.3:p.Ala672Gly