Canonical Allele Identifier: CA363590367

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32845644G>C , CM000668.2:g.32845644G>C GRCh38
NC_000006.11:g.32813421G>C , CM000668.1:g.32813421G>C GRCh37
NC_000006.10:g.32921399G>C NCBI36
NG_011759.1:g.13328C>G
NG_028165.1:g.4292C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1334C>G (TAP1) ENSP00000513708.1:n.*1334C>G
ENST00000698421.1:c.*1076C>G (TAP1) ENSP00000513709.1:n.*1076C>G
ENST00000698422.1:c.1993C>G (TAP1) ENSP00000513710.1:p.Gln665Glu
ENST00000698423.1:c.2277C>G (TAP1) ENSP00000513711.1:p.Ser759Arg
ENST00000698424.1:c.2053C>G (TAP1) ENSP00000513712.1:p.Gln685Glu
ENST00000354258.5:c.2182C>G (TAP1) MANE Select ENSP00000346206.5:p.Gln728Glu
ENST00000643049.2:c.727C>G (TAP1) ENSP00000494148.2:p.Gln243Glu
ENST00000643923.1:n.1618C>G (TAP1)
ENST00000645078.1:n.1777C>G (TAP1)
ENST00000354258.4:c.2362C>G (TAP1) ENSP00000346206.4:p.Gln788Glu
ENST00000395330.5:c.-10+1370G>C (PSMB9) ENSP00000378739.1:n.-10+1370G>C
ENST00000414474.5:c.-10+774G>C (PSMB9) ENSP00000394363.1:n.-10+774G>C
ENST00000486332.1:n.2107C>G (TAP1)
NM_000593.5:c.2362C>G (TAP1) NP_000584.2:p.Gln788Glu
NM_001292022.1:c.1579C>G (TAP1) NP_001278951.1:p.Gln527Glu
NR_037173.1:n.642G>C (PSMB8-AS1)
NR_037174.1:n.504G>C (PSMB8-AS1)
NR_037175.1:n.477G>C (PSMB8-AS1)
NR_037176.1:n.416G>C (PSMB8-AS1)
NM_001292022.2:c.1579C>G (TAP1) NP_001278951.1:p.Gln527Glu
NM_000593.6:c.2182C>G (TAP1) MANE Select NP_000584.3:p.Gln728Glu