Canonical Allele Identifier: CA1619762318

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847112G= , CM000668.2:g.32847112G= GRCh38
NC_000006.11:g.32814889G= , CM000668.1:g.32814889G= GRCh37
NC_000006.10:g.32922867G= NCBI36
NG_011759.1:g.11860C=
NG_028165.1:g.2824C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1148C= (TAP1) ENSP00000513708.1:n.*1148C=
ENST00000698421.1:c.*890C= (TAP1) ENSP00000513709.1:n.*890C=
ENST00000698422.1:c.1807C= (TAP1) ENSP00000513710.1:p.Leu603=
ENST00000698423.1:c.1996C= (TAP1) ENSP00000513711.1:p.Leu666=
ENST00000698424.1:c.1867C= (TAP1) ENSP00000513712.1:p.Leu623=
ENST00000354258.5:c.1996C= (TAP1) MANE Select ENSP00000346206.5:p.Leu666=
ENST00000643049.2:c.541C= (TAP1) ENSP00000494148.2:p.Leu181=
ENST00000643923.1:n.1432C= (TAP1)
ENST00000645078.1:n.1591C= (TAP1)
ENST00000354258.4:c.2176C= (TAP1) ENSP00000346206.4:p.Leu726=
ENST00000395330.5:c.-10+2838G= (PSMB9) ENSP00000378739.1:n.-10+2838G=
ENST00000414474.5:c.-10+2242G= (PSMB9) ENSP00000394363.1:n.-10+2242G=
ENST00000486332.1:n.1921C= (TAP1)
ENST00000487296.1:n.876C= (TAP1)
NM_000593.5:c.2176C= (TAP1) NP_000584.2:p.Leu726=
NM_001292022.1:c.1393C= (TAP1) NP_001278951.1:p.Leu465=
NM_001292022.2:c.1393C= (TAP1) NP_001278951.1:p.Leu465=
NM_000593.6:c.1996C= (TAP1) MANE Select NP_000584.3:p.Leu666=