Canonical Allele Identifier: CA10512018

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129557939C>T , CM000685.2:g.129557939C>T	GRCh38
NC_000023.10:g.128691916C>T , CM000685.1:g.128691916C>T	GRCh37
NC_000023.9:g.128519597C>T	NCBI36
NG_008638.1:g.22665C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.428C>T MANE Select	NP_000267.2:p.Ser143Phe
ENST00000371113.9:c.428C>T MANE Select	ENSP00000360154.4:p.Ser143Phe
NM_000276.3:c.428C>T	NP_000267.2:p.Ser143Phe
NM_001318784.1:c.431C>T	NP_001305713.1:p.Ser144Phe
NM_001318784.2:c.431C>T	NP_001305713.1:p.Ser144Phe
NM_001587.3:c.428C>T	NP_001578.2:p.Ser143Phe
NM_001587.4:c.428C>T	NP_001578.2:p.Ser143Phe
ENST00000357121.5:c.428C>T	ENSP00000349635.5:p.Ser143Phe
ENST00000371113.8:c.428C>T	ENSP00000360154.4:p.Ser143Phe
ENST00000486673.1:n.670C>T
ENST00000646010.1:c.476C>T
ENST00000647245.1:c.79C>T
ENST00000689093.1:c.1505C>T
ENST00000691455.1:c.*720C>T	ENSP00000510265.1:n.*720C>T
ENST00000693473.1:c.545C>T
XM_005262422.1:c.-44C>T	XP_005262479.1:n.-44C>T
XM_005262422.2:c.-44C>T	XP_005262479.1:n.-44C>T
XM_011531342.1:c.431C>T	XP_011529644.1:p.Ser144Phe
XM_011531343.1:c.431C>T	XP_011529645.1:p.Ser144Phe
XM_011531344.1:c.284C>T	XP_011529646.1:p.Ser95Phe
XM_011531344.3:c.284C>T	XP_011529646.1:p.Ser95Phe
XM_011531345.1:c.284C>T	XP_011529647.1:p.Ser95Phe
XM_011531345.3:c.284C>T	XP_011529647.1:p.Ser95Phe
XM_011531346.1:c.431C>T	XP_011529648.1:p.Ser144Phe
XM_017029554.1:c.428C>T	XP_016885043.1:p.Ser143Phe