Canonical Allele Identifier: CA10512039

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129558674G>A , CM000685.2:g.129558674G>A	GRCh38
NC_000023.10:g.128692651G>A , CM000685.1:g.128692651G>A	GRCh37
NC_000023.9:g.128520332G>A	NCBI36
NG_008638.1:g.23400G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.481G>A MANE Select	NP_000267.2:p.Asp161Asn
ENST00000371113.9:c.481G>A MANE Select	ENSP00000360154.4:p.Asp161Asn
NM_000276.3:c.481G>A	NP_000267.2:p.Asp161Asn
NM_001318784.1:c.484G>A	NP_001305713.1:p.Asp162Asn
NM_001318784.2:c.484G>A	NP_001305713.1:p.Asp162Asn
NM_001587.3:c.481G>A	NP_001578.2:p.Asp161Asn
NM_001587.4:c.481G>A	NP_001578.2:p.Asp161Asn
ENST00000357121.5:c.481G>A	ENSP00000349635.5:p.Asp161Asn
ENST00000371113.8:c.481G>A	ENSP00000360154.4:p.Asp161Asn
ENST00000486673.1:n.723G>A
ENST00000646010.1:c.529G>A
ENST00000647245.1:c.132G>A
ENST00000689093.1:c.1558G>A
ENST00000691455.1:c.*773G>A	ENSP00000510265.1:n.*773G>A
ENST00000693473.1:c.598G>A
XM_005262422.1:c.10G>A	XP_005262479.1:p.Asp4Asn
XM_005262422.2:c.10G>A	XP_005262479.1:p.Asp4Asn
XM_011531342.1:c.484G>A	XP_011529644.1:p.Asp162Asn
XM_011531343.1:c.484G>A	XP_011529645.1:p.Asp162Asn
XM_011531344.1:c.337G>A	XP_011529646.1:p.Asp113Asn
XM_011531344.3:c.337G>A	XP_011529646.1:p.Asp113Asn
XM_011531345.1:c.337G>A	XP_011529647.1:p.Asp113Asn
XM_011531345.3:c.337G>A	XP_011529647.1:p.Asp113Asn
XM_011531346.1:c.484G>A	XP_011529648.1:p.Asp162Asn
XM_017029554.1:c.481G>A	XP_016885043.1:p.Asp161Asn