Canonical Allele Identifier: CA414617518

Gene: OCRL

Linked Data

• ClinVar Variation Id: 521093
• ClinVar RCV Id: RCV000680054 ; RCV004025269
• dbSNP Id: rs1182741031
• COSMIC: COSM5772988
• MyVariant Identifiers: chrX:g.128709135C>T (hg19) ; chrX:g.129575158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129575158C>T , CM000685.2:g.129575158C>T	GRCh38
NC_000023.10:g.128709135C>T , CM000685.1:g.128709135C>T	GRCh37
NC_000023.9:g.128536816C>T	NCBI36
NG_008638.1:g.39884C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.*1913C>T	ENSP00000510265.1:n.*1913C>T
ENST00000693473.1:c.1738C>T
ENST00000371113.9:c.1621C>T MANE Select	ENSP00000360154.4:p.Arg541Ter
ENST00000646010.1:c.1669C>T
ENST00000646914.1:c.732C>T
ENST00000647245.1:c.1272C>T
ENST00000357121.5:c.1621C>T	ENSP00000349635.5:p.Arg541Ter
ENST00000371113.8:c.1621C>T	ENSP00000360154.4:p.Arg541Ter
NM_000276.3:c.1621C>T	NP_000267.2:p.Arg541Ter
NM_001587.3:c.1621C>T	NP_001578.2:p.Arg541Ter
XM_005262422.1:c.1150C>T	XP_005262479.1:p.Arg384Ter
XM_011531342.1:c.1624C>T	XP_011529644.1:p.Arg542Ter
XM_011531343.1:c.1624C>T	XP_011529645.1:p.Arg542Ter
XM_011531344.1:c.1477C>T	XP_011529646.1:p.Arg493Ter
XM_011531345.1:c.1477C>T	XP_011529647.1:p.Arg493Ter
XM_011531346.1:c.1624C>T	XP_011529648.1:p.Arg542Ter
NM_001318784.1:c.1624C>T	NP_001305713.1:p.Arg542Ter
XM_005262422.2:c.1150C>T	XP_005262479.1:p.Arg384Ter
XM_011531344.3:c.1477C>T	XP_011529646.1:p.Arg493Ter
XM_011531345.3:c.1477C>T	XP_011529647.1:p.Arg493Ter
XM_017029554.1:c.1621C>T	XP_016885043.1:p.Arg541Ter
NM_000276.4:c.1621C>T MANE Select	NP_000267.2:p.Arg541Ter
NM_001318784.2:c.1624C>T	NP_001305713.1:p.Arg542Ter
NM_001587.4:c.1621C>T	NP_001578.2:p.Arg541Ter