Canonical Allele Identifier: CA10512417

Gene: OCRL

Linked Data

• ClinVar Variation Id: 377044
• ClinVar RCV Id: RCV000445063 ; RCV003509530
• dbSNP Id: rs749551841
• ExAC: X:128724236 G / A
• gnomAD v2: X-128724236-G-A
• gnomAD v3: X-129590259-G-A
• gnomAD v4: X-129590259-G-A
• COSMIC: COSM1218273
• MyVariant Identifiers: chrX:g.128724236G>A (hg19) ; chrX:g.129590259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129590259G>A , CM000685.2:g.129590259G>A	GRCh38
NC_000023.10:g.128724236G>A , CM000685.1:g.128724236G>A	GRCh37
NC_000023.9:g.128551917G>A	NCBI36
NG_008638.1:g.54985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693473.1:c.2812G>A
ENST00000371113.9:c.2695G>A MANE Select	ENSP00000360154.4:p.Glu899Lys
ENST00000646010.1:c.2743G>A
ENST00000646914.1:c.2000G>A
ENST00000647245.1:c.2246G>A
ENST00000357121.5:c.2671G>A	ENSP00000349635.5:p.Glu891Lys
ENST00000371113.8:c.2695G>A	ENSP00000360154.4:p.Glu899Lys
ENST00000463271.1:n.482G>A
NM_000276.3:c.2695G>A	NP_000267.2:p.Glu899Lys
NM_001587.3:c.2671G>A	NP_001578.2:p.Glu891Lys
XM_005262422.1:c.2224G>A	XP_005262479.1:p.Glu742Lys
XM_011531342.1:c.2698G>A	XP_011529644.1:p.Glu900Lys
XM_011531343.1:c.2674G>A	XP_011529645.1:p.Glu892Lys
XM_011531344.1:c.2551G>A	XP_011529646.1:p.Glu851Lys
XM_011531345.1:c.2551G>A	XP_011529647.1:p.Glu851Lys
NM_001318784.1:c.2698G>A	NP_001305713.1:p.Glu900Lys
XM_005262422.2:c.2224G>A	XP_005262479.1:p.Glu742Lys
XM_011531344.3:c.2551G>A	XP_011529646.1:p.Glu851Lys
XM_011531345.3:c.2551G>A	XP_011529647.1:p.Glu851Lys
NM_000276.4:c.2695G>A MANE Select	NP_000267.2:p.Glu899Lys
NM_001318784.2:c.2698G>A	NP_001305713.1:p.Glu900Lys
NM_001587.4:c.2671G>A	NP_001578.2:p.Glu891Lys