Canonical Allele Identifier: CA414552473

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129562397G>A , CM000685.2:g.129562397G>A	GRCh38
NC_000023.10:g.128696374G>A , CM000685.1:g.128696374G>A	GRCh37
NC_000023.9:g.128524055G>A	NCBI36
NG_008638.1:g.27123G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.953G>A MANE Select	NP_000267.2:p.Arg318His
ENST00000371113.9:c.953G>A MANE Select	ENSP00000360154.4:p.Arg318His
NM_000276.3:c.953G>A	NP_000267.2:p.Arg318His
NM_001318784.1:c.956G>A	NP_001305713.1:p.Arg319His
NM_001318784.2:c.956G>A	NP_001305713.1:p.Arg319His
NM_001587.3:c.953G>A	NP_001578.2:p.Arg318His
NM_001587.4:c.953G>A	NP_001578.2:p.Arg318His
ENST00000357121.5:c.953G>A	ENSP00000349635.5:p.Arg318His
ENST00000371113.8:c.953G>A	ENSP00000360154.4:p.Arg318His
ENST00000646010.1:c.1001G>A
ENST00000646914.1:c.64G>A
ENST00000647245.1:c.604G>A
ENST00000691455.1:c.*1245G>A	ENSP00000510265.1:n.*1245G>A
ENST00000693473.1:c.1070G>A
XM_005262422.1:c.482G>A	XP_005262479.1:p.Arg161His
XM_005262422.2:c.482G>A	XP_005262479.1:p.Arg161His
XM_011531342.1:c.956G>A	XP_011529644.1:p.Arg319His
XM_011531343.1:c.956G>A	XP_011529645.1:p.Arg319His
XM_011531344.1:c.809G>A	XP_011529646.1:p.Arg270His
XM_011531344.3:c.809G>A	XP_011529646.1:p.Arg270His
XM_011531345.1:c.809G>A	XP_011529647.1:p.Arg270His
XM_011531345.3:c.809G>A	XP_011529647.1:p.Arg270His
XM_011531346.1:c.956G>A	XP_011529648.1:p.Arg319His
XM_017029554.1:c.953G>A	XP_016885043.1:p.Arg318His