Canonical Allele Identifier: CA266168

Gene: OCRL

Linked Data

• ClinVar Variation Id: 10861
• ClinVar RCV Id: RCV000011608 ; RCV000059607 ; RCV000727111
• dbSNP Id: rs137853263
• COSMIC: COSM1114837
• MyVariant Identifiers: chrX:g.128696373C>T (hg19) ; chrX:g.129562396C>T (hg38)
• PubMed: PMID:15627218 ; PMID:17162149 ; PMID:17384968 ; PMID:21031565 ; PMID:22876375 ; PMID:24081861 ; PMID:27625797

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129562396C>T , CM000685.2:g.129562396C>T	GRCh38
NC_000023.10:g.128696373C>T , CM000685.1:g.128696373C>T	GRCh37
NC_000023.9:g.128524054C>T	NCBI36
NG_008638.1:g.27122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.*1244C>T	ENSP00000510265.1:n.*1244C>T
ENST00000693473.1:c.1069C>T
ENST00000371113.9:c.952C>T MANE Select	ENSP00000360154.4:p.Arg318Cys
ENST00000646010.1:c.1000C>T
ENST00000646914.1:c.63C>T
ENST00000647245.1:c.603C>T
ENST00000357121.5:c.952C>T	ENSP00000349635.5:p.Arg318Cys
ENST00000371113.8:c.952C>T	ENSP00000360154.4:p.Arg318Cys
NM_000276.3:c.952C>T	NP_000267.2:p.Arg318Cys
NM_001587.3:c.952C>T	NP_001578.2:p.Arg318Cys
XM_005262422.1:c.481C>T	XP_005262479.1:p.Arg161Cys
XM_011531342.1:c.955C>T	XP_011529644.1:p.Arg319Cys
XM_011531343.1:c.955C>T	XP_011529645.1:p.Arg319Cys
XM_011531344.1:c.808C>T	XP_011529646.1:p.Arg270Cys
XM_011531345.1:c.808C>T	XP_011529647.1:p.Arg270Cys
XM_011531346.1:c.955C>T	XP_011529648.1:p.Arg319Cys
NM_001318784.1:c.955C>T	NP_001305713.1:p.Arg319Cys
XM_005262422.2:c.481C>T	XP_005262479.1:p.Arg161Cys
XM_011531344.3:c.808C>T	XP_011529646.1:p.Arg270Cys
XM_011531345.3:c.808C>T	XP_011529647.1:p.Arg270Cys
XM_017029554.1:c.952C>T	XP_016885043.1:p.Arg318Cys
NM_000276.4:c.952C>T MANE Select	NP_000267.2:p.Arg318Cys
NM_001318784.2:c.955C>T	NP_001305713.1:p.Arg319Cys
NM_001587.4:c.952C>T	NP_001578.2:p.Arg318Cys