Canonical Allele Identifier: CA10511918

Gene: OCRL

Linked Data

• ClinVar Variation Id: 436102
• ClinVar RCV Id: RCV000502299 ; RCV002056860 ; RCV003992307 ; RCV004023389
• dbSNP Id: rs768913997
• ExAC: X:128674731 G / C
• gnomAD v2: X-128674731-G-C
• gnomAD v3: X-129540754-G-C
• gnomAD v4: X-129540754-G-C
• MyVariant Identifiers: chrX:g.128674731G>C (hg19) ; chrX:g.129540754G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129540754G>C , CM000685.2:g.129540754G>C	GRCh38
NC_000023.10:g.128674731G>C , CM000685.1:g.128674731G>C	GRCh37
NC_000023.9:g.128502412G>C	NCBI36
NG_008638.1:g.5480G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.39+276G>C	ENSP00000510265.1:n.39+276G>C
ENST00000693473.1:c.7G>C
ENST00000371113.9:c.50G>C MANE Select	ENSP00000360154.4:p.Gly17Ala
ENST00000646010.1:c.7G>C
ENST00000357121.5:c.50G>C	ENSP00000349635.5:p.Gly17Ala
ENST00000371113.8:c.50G>C	ENSP00000360154.4:p.Gly17Ala
ENST00000486673.1:n.91+815G>C
NM_000276.3:c.50G>C	NP_000267.2:p.Gly17Ala
NM_001587.3:c.50G>C	NP_001578.2:p.Gly17Ala
XM_005262422.1:c.-353+815G>C	XP_005262479.1:n.-353+815G>C
XM_011531342.1:c.53G>C	XP_011529644.1:p.Gly18Ala
XM_011531343.1:c.53G>C	XP_011529645.1:p.Gly18Ala
XM_011531344.1:c.-146-4204G>C	XP_011529646.1:n.-146-4204G>C
XM_011531345.1:c.-147+815G>C	XP_011529647.1:n.-147+815G>C
XM_011531346.1:c.53G>C	XP_011529648.1:p.Gly18Ala
NM_001318784.1:c.53G>C	NP_001305713.1:p.Gly18Ala
XM_005262422.2:c.-353+815G>C	XP_005262479.1:n.-353+815G>C
XM_011531344.3:c.-146-4204G>C	XP_011529646.1:n.-146-4204G>C
XM_011531345.3:c.-147+815G>C	XP_011529647.1:n.-147+815G>C
XM_017029554.1:c.50G>C	XP_016885043.1:p.Gly17Ala
NM_000276.4:c.50G>C MANE Select	NP_000267.2:p.Gly17Ala
NM_001318784.2:c.53G>C	NP_001305713.1:p.Gly18Ala
NM_001587.4:c.50G>C	NP_001578.2:p.Gly17Ala