Canonical Allele Identifier: CA363590717

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847087T>A , CM000668.2:g.32847087T>A GRCh38
NC_000006.11:g.32814864T>A , CM000668.1:g.32814864T>A GRCh37
NC_000006.10:g.32922842T>A NCBI36
NG_011759.1:g.11885A>T
NG_028165.1:g.2849A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1173A>T (TAP1) ENSP00000513708.1:n.*1173A>T
ENST00000698421.1:c.*915A>T (TAP1) ENSP00000513709.1:n.*915A>T
ENST00000698422.1:c.1832A>T (TAP1) ENSP00000513710.1:p.Asp611Val
ENST00000698423.1:c.2021A>T (TAP1) ENSP00000513711.1:p.Asp674Val
ENST00000698424.1:c.1892A>T (TAP1) ENSP00000513712.1:p.Asp631Val
ENST00000354258.5:c.2021A>T (TAP1) MANE Select ENSP00000346206.5:p.Asp674Val
ENST00000643049.2:c.566A>T (TAP1) ENSP00000494148.2:p.Asp189Val
ENST00000643923.1:n.1457A>T (TAP1)
ENST00000645078.1:n.1616A>T (TAP1)
ENST00000354258.4:c.2201A>T (TAP1) ENSP00000346206.4:p.Asp734Val
ENST00000395330.5:c.-10+2813T>A (PSMB9) ENSP00000378739.1:n.-10+2813T>A
ENST00000414474.5:c.-10+2217T>A (PSMB9) ENSP00000394363.1:n.-10+2217T>A
ENST00000486332.1:n.1946A>T (TAP1)
ENST00000487296.1:n.901A>T (TAP1)
NM_000593.5:c.2201A>T (TAP1) NP_000584.2:p.Asp734Val
NM_001292022.1:c.1418A>T (TAP1) NP_001278951.1:p.Asp473Val
NM_001292022.2:c.1418A>T (TAP1) NP_001278951.1:p.Asp473Val
NM_000593.6:c.2021A>T (TAP1) MANE Select NP_000584.3:p.Asp674Val