Canonical Allele Identifier: CA414632044

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589885G>A , CM000685.2:g.129589885G>A	GRCh38
NC_000023.10:g.128723862G>A , CM000685.1:g.128723862G>A	GRCh37
NC_000023.9:g.128551543G>A	NCBI36
NG_008638.1:g.54611G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.2510G>A MANE Select	NP_000267.2:p.Arg837His
ENST00000371113.9:c.2510G>A MANE Select	ENSP00000360154.4:p.Arg837His
NM_000276.3:c.2510G>A	NP_000267.2:p.Arg837His
NM_001318784.1:c.2513G>A	NP_001305713.1:p.Arg838His
NM_001318784.2:c.2513G>A	NP_001305713.1:p.Arg838His
NM_001587.3:c.2486G>A	NP_001578.2:p.Arg829His
NM_001587.4:c.2486G>A	NP_001578.2:p.Arg829His
ENST00000357121.5:c.2486G>A	ENSP00000349635.5:p.Arg829His
ENST00000371113.8:c.2510G>A	ENSP00000360154.4:p.Arg837His
ENST00000463271.1:n.297G>A
ENST00000646010.1:c.2558G>A
ENST00000646914.1:c.1815G>A
ENST00000647245.1:c.2061G>A
ENST00000693473.1:c.2627G>A
XM_005262422.1:c.2039G>A	XP_005262479.1:p.Arg680His
XM_005262422.2:c.2039G>A	XP_005262479.1:p.Arg680His
XM_011531342.1:c.2513G>A	XP_011529644.1:p.Arg838His
XM_011531343.1:c.2489G>A	XP_011529645.1:p.Arg830His
XM_011531344.1:c.2366G>A	XP_011529646.1:p.Arg789His
XM_011531344.3:c.2366G>A	XP_011529646.1:p.Arg789His
XM_011531345.1:c.2366G>A	XP_011529647.1:p.Arg789His
XM_011531345.3:c.2366G>A	XP_011529647.1:p.Arg789His