Canonical Allele Identifier: CA363590740

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847099G>A , CM000668.2:g.32847099G>A GRCh38
NC_000006.11:g.32814876G>A , CM000668.1:g.32814876G>A GRCh37
NC_000006.10:g.32922854G>A NCBI36
NG_011759.1:g.11873C>T
NG_028165.1:g.2837C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1161C>T (TAP1) ENSP00000513708.1:n.*1161C>T
ENST00000698421.1:c.*903C>T (TAP1) ENSP00000513709.1:n.*903C>T
ENST00000698422.1:c.1820C>T (TAP1) ENSP00000513710.1:p.Thr607Ile
ENST00000698423.1:c.2009C>T (TAP1) ENSP00000513711.1:p.Thr670Ile
ENST00000698424.1:c.1880C>T (TAP1) ENSP00000513712.1:p.Thr627Ile
ENST00000354258.5:c.2009C>T (TAP1) MANE Select ENSP00000346206.5:p.Thr670Ile
ENST00000643049.2:c.554C>T (TAP1) ENSP00000494148.2:p.Thr185Ile
ENST00000643923.1:n.1445C>T (TAP1)
ENST00000645078.1:n.1604C>T (TAP1)
ENST00000354258.4:c.2189C>T (TAP1) ENSP00000346206.4:p.Thr730Ile
ENST00000395330.5:c.-10+2825G>A (PSMB9) ENSP00000378739.1:n.-10+2825G>A
ENST00000414474.5:c.-10+2229G>A (PSMB9) ENSP00000394363.1:n.-10+2229G>A
ENST00000486332.1:n.1934C>T (TAP1)
ENST00000487296.1:n.889C>T (TAP1)
NM_000593.5:c.2189C>T (TAP1) NP_000584.2:p.Thr730Ile
NM_001292022.1:c.1406C>T (TAP1) NP_001278951.1:p.Thr469Ile
NM_001292022.2:c.1406C>T (TAP1) NP_001278951.1:p.Thr469Ile
NM_000593.6:c.2009C>T (TAP1) MANE Select NP_000584.3:p.Thr670Ile