Canonical Allele Identifier: CA363590954

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847204T>A , CM000668.2:g.32847204T>A GRCh38
NC_000006.11:g.32814981T>A , CM000668.1:g.32814981T>A GRCh37
NC_000006.10:g.32922959T>A NCBI36
NG_011759.1:g.11768A>T
NG_028165.1:g.2732A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1056A>T (TAP1) ENSP00000513708.1:n.*1056A>T
ENST00000698421.1:c.*798A>T (TAP1) ENSP00000513709.1:n.*798A>T
ENST00000698422.1:c.1715A>T (TAP1) ENSP00000513710.1:p.Glu572Val
ENST00000698423.1:c.1904A>T (TAP1) ENSP00000513711.1:p.Glu635Val
ENST00000698424.1:c.1775A>T (TAP1) ENSP00000513712.1:p.Glu592Val
ENST00000354258.5:c.1904A>T (TAP1) MANE Select ENSP00000346206.5:p.Glu635Val
ENST00000643049.2:c.449A>T (TAP1) ENSP00000494148.2:p.Glu150Val
ENST00000643923.1:n.1340A>T (TAP1)
ENST00000645078.1:n.1499A>T (TAP1)
ENST00000354258.4:c.2084A>T (TAP1) ENSP00000346206.4:p.Glu695Val
ENST00000395330.5:c.-10+2930T>A (PSMB9) ENSP00000378739.1:n.-10+2930T>A
ENST00000414474.5:c.-10+2334T>A (PSMB9) ENSP00000394363.1:n.-10+2334T>A
ENST00000486332.1:n.1829A>T (TAP1)
ENST00000487296.1:n.784A>T (TAP1)
NM_000593.5:c.2084A>T (TAP1) NP_000584.2:p.Glu695Val
NM_001292022.1:c.1301A>T (TAP1) NP_001278951.1:p.Glu434Val
NM_001292022.2:c.1301A>T (TAP1) NP_001278951.1:p.Glu434Val
NM_000593.6:c.1904A>T (TAP1) MANE Select NP_000584.3:p.Glu635Val