Canonical Allele Identifier: CA2458101740

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129569387C= , CM000685.2:g.129569387C=	GRCh38
NC_000023.10:g.128703364C= , CM000685.1:g.128703364C=	GRCh37
NC_000023.9:g.128531045C=	NCBI36
NG_008638.1:g.34113C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.*1882C=	ENSP00000510265.1:n.*1882C=
ENST00000693473.1:c.1707C=
ENST00000371113.9:c.1590C= MANE Select	ENSP00000360154.4:p.Leu530=
ENST00000646010.1:c.1638C=
ENST00000646914.1:c.701C=
ENST00000647245.1:c.1241C=
ENST00000357121.5:c.1590C=	ENSP00000349635.5:p.Leu530=
ENST00000371113.8:c.1590C=	ENSP00000360154.4:p.Leu530=
NM_000276.3:c.1590C=	NP_000267.2:p.Leu530=
NM_001587.3:c.1590C=	NP_001578.2:p.Leu530=
XM_005262422.1:c.1119C=	XP_005262479.1:p.Leu373=
XM_011531342.1:c.1593C=	XP_011529644.1:p.Leu531=
XM_011531343.1:c.1593C=	XP_011529645.1:p.Leu531=
XM_011531344.1:c.1446C=	XP_011529646.1:p.Leu482=
XM_011531345.1:c.1446C=	XP_011529647.1:p.Leu482=
XM_011531346.1:c.1593C=	XP_011529648.1:p.Leu531=
NM_001318784.1:c.1593C=	NP_001305713.1:p.Leu531=
XM_005262422.2:c.1119C=	XP_005262479.1:p.Leu373=
XM_011531344.3:c.1446C=	XP_011529646.1:p.Leu482=
XM_011531345.3:c.1446C=	XP_011529647.1:p.Leu482=
XM_017029554.1:c.1590C=	XP_016885043.1:p.Leu530=
NM_000276.4:c.1590C= MANE Select	NP_000267.2:p.Leu530=
NM_001318784.2:c.1593C=	NP_001305713.1:p.Leu531=
NM_001587.4:c.1590C=	NP_001578.2:p.Leu530=