Canonical Allele Identifier: CA2458101723
Gene: OCRL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.129569337C= , CM000685.2:g.129569337C= GRCh38
NC_000023.10:g.128703314C= , CM000685.1:g.128703314C= GRCh37
NC_000023.9:g.128530995C= NCBI36
NG_008638.1:g.34063C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691455.1:c.*1832C= ENSP00000510265.1:n.*1832C=
ENST00000693473.1:c.1657C=
ENST00000371113.9:c.1540C= MANE Select ENSP00000360154.4:p.Arg514=
ENST00000646010.1:c.1588C=
ENST00000646914.1:c.651C=
ENST00000647245.1:c.1191C=
ENST00000357121.5:c.1540C= ENSP00000349635.5:p.Arg514=
ENST00000371113.8:c.1540C= ENSP00000360154.4:p.Arg514=
NM_000276.3:c.1540C= NP_000267.2:p.Arg514=
NM_001587.3:c.1540C= NP_001578.2:p.Arg514=
XM_005262422.1:c.1069C= XP_005262479.1:p.Arg357=
XM_011531342.1:c.1543C= XP_011529644.1:p.Arg515=
XM_011531343.1:c.1543C= XP_011529645.1:p.Arg515=
XM_011531344.1:c.1396C= XP_011529646.1:p.Arg466=
XM_011531345.1:c.1396C= XP_011529647.1:p.Arg466=
XM_011531346.1:c.1543C= XP_011529648.1:p.Arg515=
NM_001318784.1:c.1543C= NP_001305713.1:p.Arg515=
XM_005262422.2:c.1069C= XP_005262479.1:p.Arg357=
XM_011531344.3:c.1396C= XP_011529646.1:p.Arg466=
XM_011531345.3:c.1396C= XP_011529647.1:p.Arg466=
XM_017029554.1:c.1540C= XP_016885043.1:p.Arg514=
NM_000276.4:c.1540C= MANE Select NP_000267.2:p.Arg514=
NM_001318784.2:c.1543C= NP_001305713.1:p.Arg515=
NM_001587.4:c.1540C= NP_001578.2:p.Arg514=