Canonical Allele Identifier: CA363590865

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847160C>T , CM000668.2:g.32847160C>T GRCh38
NC_000006.11:g.32814937C>T , CM000668.1:g.32814937C>T GRCh37
NC_000006.10:g.32922915C>T NCBI36
NG_011759.1:g.11812G>A
NG_028165.1:g.2776G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1100G>A (TAP1) ENSP00000513708.1:n.*1100G>A
ENST00000698421.1:c.*842G>A (TAP1) ENSP00000513709.1:n.*842G>A
ENST00000698422.1:c.1759G>A (TAP1) ENSP00000513710.1:p.Ala587Thr
ENST00000698423.1:c.1948G>A (TAP1) ENSP00000513711.1:p.Ala650Thr
ENST00000698424.1:c.1819G>A (TAP1) ENSP00000513712.1:p.Ala607Thr
ENST00000354258.5:c.1948G>A (TAP1) MANE Select ENSP00000346206.5:p.Ala650Thr
ENST00000643049.2:c.493G>A (TAP1) ENSP00000494148.2:p.Ala165Thr
ENST00000643923.1:n.1384G>A (TAP1)
ENST00000645078.1:n.1543G>A (TAP1)
ENST00000354258.4:c.2128G>A (TAP1) ENSP00000346206.4:p.Ala710Thr
ENST00000395330.5:c.-10+2886C>T (PSMB9) ENSP00000378739.1:n.-10+2886C>T
ENST00000414474.5:c.-10+2290C>T (PSMB9) ENSP00000394363.1:n.-10+2290C>T
ENST00000486332.1:n.1873G>A (TAP1)
ENST00000487296.1:n.828G>A (TAP1)
NM_000593.5:c.2128G>A (TAP1) NP_000584.2:p.Ala710Thr
NM_001292022.1:c.1345G>A (TAP1) NP_001278951.1:p.Ala449Thr
NM_001292022.2:c.1345G>A (TAP1) NP_001278951.1:p.Ala449Thr
NM_000593.6:c.1948G>A (TAP1) MANE Select NP_000584.3:p.Ala650Thr