Canonical Allele Identifier: CA518546414

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128723882C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589905C>A , CM000685.2:g.129589905C>A	GRCh38
NC_000023.10:g.128723882C>A , CM000685.1:g.128723882C>A	GRCh37
NC_000023.9:g.128551563C>A	NCBI36
NG_008638.1:g.54631C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693473.1:c.2647C>A
ENST00000371113.9:c.2530C>A MANE Select	ENSP00000360154.4:p.Arg844=
ENST00000646010.1:c.2578C>A
ENST00000646914.1:c.1835C>A
ENST00000647245.1:c.2081C>A
ENST00000357121.5:c.2506C>A	ENSP00000349635.5:p.Arg836=
ENST00000371113.8:c.2530C>A	ENSP00000360154.4:p.Arg844=
ENST00000463271.1:n.317C>A
NM_000276.3:c.2530C>A	NP_000267.2:p.Arg844=
NM_001587.3:c.2506C>A	NP_001578.2:p.Arg836=
XM_005262422.1:c.2059C>A	XP_005262479.1:p.Arg687=
XM_011531342.1:c.2533C>A	XP_011529644.1:p.Arg845=
XM_011531343.1:c.2509C>A	XP_011529645.1:p.Arg837=
XM_011531344.1:c.2386C>A	XP_011529646.1:p.Arg796=
XM_011531345.1:c.2386C>A	XP_011529647.1:p.Arg796=
NM_001318784.1:c.2533C>A	NP_001305713.1:p.Arg845=
XM_005262422.2:c.2059C>A	XP_005262479.1:p.Arg687=
XM_011531344.3:c.2386C>A	XP_011529646.1:p.Arg796=
XM_011531345.3:c.2386C>A	XP_011529647.1:p.Arg796=
NM_000276.4:c.2530C>A MANE Select	NP_000267.2:p.Arg844=
NM_001318784.2:c.2533C>A	NP_001305713.1:p.Arg845=
NM_001587.4:c.2506C>A	NP_001578.2:p.Arg836=