Canonical Allele Identifier: CA363592975

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32851007C>T , CM000668.2:g.32851007C>T GRCh38
NC_000006.11:g.32818784C>T , CM000668.1:g.32818784C>T GRCh37
NC_000006.10:g.32926762C>T NCBI36
NG_011759.1:g.7965G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*139G>A (TAP1) ENSP00000513708.1:n.*139G>A
ENST00000698421.1:c.845-490G>A (TAP1) ENSP00000513709.1:n.845-490G>A
ENST00000698422.1:c.987G>A (TAP1) ENSP00000513710.1:p.Met329Ile
ENST00000698423.1:c.987G>A (TAP1) ENSP00000513711.1:p.Met329Ile
ENST00000698424.1:c.987G>A (TAP1) ENSP00000513712.1:p.Met329Ile
ENST00000354258.5:c.987G>A (TAP1) MANE Select ENSP00000346206.5:p.Met329Ile
ENST00000643049.2:c.141+2489G>A (TAP1) ENSP00000494148.2:n.141+2489G>A
ENST00000643923.1:n.423G>A (TAP1)
ENST00000645078.1:n.582G>A (TAP1)
ENST00000354258.4:c.1167G>A (TAP1) ENSP00000346206.4:p.Met389Ile
ENST00000395330.5:c.-9-5131C>T (PSMB9) ENSP00000378739.1:n.-9-5131C>T
ENST00000414474.5:c.-9-5131C>T (PSMB9) ENSP00000394363.1:n.-9-5131C>T
NM_000593.5:c.1167G>A (TAP1) NP_000584.2:p.Met389Ile
NM_001292022.1:c.384G>A (TAP1) NP_001278951.1:p.Met128Ile
NM_001292022.2:c.384G>A (TAP1) NP_001278951.1:p.Met128Ile
NM_000593.6:c.987G>A (TAP1) MANE Select NP_000584.3:p.Met329Ile