Canonical Allele Identifier: CA414552217

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129561204G>A , CM000685.2:g.129561204G>A	GRCh38
NC_000023.10:g.128695181G>A , CM000685.1:g.128695181G>A	GRCh37
NC_000023.9:g.128522862G>A	NCBI36
NG_008638.1:g.25930G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.850G>A MANE Select	NP_000267.2:p.Glu284Lys
ENST00000371113.9:c.850G>A MANE Select	ENSP00000360154.4:p.Glu284Lys
NM_000276.3:c.850G>A	NP_000267.2:p.Glu284Lys
NM_001318784.1:c.853G>A	NP_001305713.1:p.Glu285Lys
NM_001318784.2:c.853G>A	NP_001305713.1:p.Glu285Lys
NM_001587.3:c.850G>A	NP_001578.2:p.Glu284Lys
NM_001587.4:c.850G>A	NP_001578.2:p.Glu284Lys
ENST00000357121.5:c.850G>A	ENSP00000349635.5:p.Glu284Lys
ENST00000371113.8:c.850G>A	ENSP00000360154.4:p.Glu284Lys
ENST00000646010.1:c.898G>A
ENST00000647245.1:c.501G>A
ENST00000691455.1:c.*1142G>A	ENSP00000510265.1:n.*1142G>A
ENST00000693473.1:c.967G>A
XM_005262422.1:c.379G>A	XP_005262479.1:p.Glu127Lys
XM_005262422.2:c.379G>A	XP_005262479.1:p.Glu127Lys
XM_011531342.1:c.853G>A	XP_011529644.1:p.Glu285Lys
XM_011531343.1:c.853G>A	XP_011529645.1:p.Glu285Lys
XM_011531344.1:c.706G>A	XP_011529646.1:p.Glu236Lys
XM_011531344.3:c.706G>A	XP_011529646.1:p.Glu236Lys
XM_011531345.1:c.706G>A	XP_011529647.1:p.Glu236Lys
XM_011531345.3:c.706G>A	XP_011529647.1:p.Glu236Lys
XM_011531346.1:c.853G>A	XP_011529648.1:p.Glu285Lys
XM_017029554.1:c.850G>A	XP_016885043.1:p.Glu284Lys