Canonical Allele Identifier: CA518546419

Gene: OCRL

Linked Data

• ClinVar Variation Id: 2866897
• ClinVar RCV Id: RCV003623509
• MyVariant Identifiers: chrX:g.128723887A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589910A>G , CM000685.2:g.129589910A>G	GRCh38
NC_000023.10:g.128723887A>G , CM000685.1:g.128723887A>G	GRCh37
NC_000023.9:g.128551568A>G	NCBI36
NG_008638.1:g.54636A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000693473.1:c.2652A>G
ENST00000371113.9:c.2535A>G MANE Select	ENSP00000360154.4:p.Glu845=
ENST00000646010.1:c.2583A>G
ENST00000646914.1:c.1840A>G
ENST00000647245.1:c.2086A>G
ENST00000357121.5:c.2511A>G	ENSP00000349635.5:p.Glu837=
ENST00000371113.8:c.2535A>G	ENSP00000360154.4:p.Glu845=
ENST00000463271.1:n.322A>G
NM_000276.3:c.2535A>G	NP_000267.2:p.Glu845=
NM_001587.3:c.2511A>G	NP_001578.2:p.Glu837=
XM_005262422.1:c.2064A>G	XP_005262479.1:p.Glu688=
XM_011531342.1:c.2538A>G	XP_011529644.1:p.Glu846=
XM_011531343.1:c.2514A>G	XP_011529645.1:p.Glu838=
XM_011531344.1:c.2391A>G	XP_011529646.1:p.Glu797=
XM_011531345.1:c.2391A>G	XP_011529647.1:p.Glu797=
NM_001318784.1:c.2538A>G	NP_001305713.1:p.Glu846=
XM_005262422.2:c.2064A>G	XP_005262479.1:p.Glu688=
XM_011531344.3:c.2391A>G	XP_011529646.1:p.Glu797=
XM_011531345.3:c.2391A>G	XP_011529647.1:p.Glu797=
NM_000276.4:c.2535A>G MANE Select	NP_000267.2:p.Glu845=
NM_001318784.2:c.2538A>G	NP_001305713.1:p.Glu846=
NM_001587.4:c.2511A>G	NP_001578.2:p.Glu837=