Canonical Allele Identifier: CA10511932

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129540819T>C , CM000685.2:g.129540819T>C	GRCh38
NC_000023.10:g.128674796T>C , CM000685.1:g.128674796T>C	GRCh37
NC_000023.9:g.128502477T>C	NCBI36
NG_008638.1:g.5545T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.115T>C MANE Select	NP_000267.2:p.Tyr39His
ENST00000371113.9:c.115T>C MANE Select	ENSP00000360154.4:p.Tyr39His
NM_000276.3:c.115T>C	NP_000267.2:p.Tyr39His
NM_001318784.1:c.118T>C	NP_001305713.1:p.Tyr40His
NM_001318784.2:c.118T>C	NP_001305713.1:p.Tyr40His
NM_001587.3:c.115T>C	NP_001578.2:p.Tyr39His
NM_001587.4:c.115T>C	NP_001578.2:p.Tyr39His
ENST00000357121.5:c.115T>C	ENSP00000349635.5:p.Tyr39His
ENST00000371113.8:c.115T>C	ENSP00000360154.4:p.Tyr39His
ENST00000486673.1:n.91+880T>C
ENST00000646010.1:c.72T>C
ENST00000691455.1:c.39+341T>C	ENSP00000510265.1:n.39+341T>C
ENST00000693473.1:c.72T>C
XM_005262422.1:c.-353+880T>C	XP_005262479.1:n.-353+880T>C
XM_005262422.2:c.-353+880T>C	XP_005262479.1:n.-353+880T>C
XM_011531342.1:c.118T>C	XP_011529644.1:p.Tyr40His
XM_011531343.1:c.118T>C	XP_011529645.1:p.Tyr40His
XM_011531344.1:c.-146-4139T>C	XP_011529646.1:n.-146-4139T>C
XM_011531344.3:c.-146-4139T>C	XP_011529646.1:n.-146-4139T>C
XM_011531345.1:c.-147+880T>C	XP_011529647.1:n.-147+880T>C
XM_011531345.3:c.-147+880T>C	XP_011529647.1:n.-147+880T>C
XM_011531346.1:c.118T>C	XP_011529648.1:p.Tyr40His
XM_017029554.1:c.115T>C	XP_016885043.1:p.Tyr39His