Canonical Allele Identifier: CA414616269

Gene: OCRL

Linked Data

• ClinVar Variation Id: 2918137
• ClinVar RCV Id: RCV003622371
• gnomAD v4: X-129569275-G-A
• MyVariant Identifiers: chrX:g.128703252G>A (hg19) ; chrX:g.129569275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129569275G>A , CM000685.2:g.129569275G>A	GRCh38
NC_000023.10:g.128703252G>A , CM000685.1:g.128703252G>A	GRCh37
NC_000023.9:g.128530933G>A	NCBI36
NG_008638.1:g.34001G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691455.1:c.*1770G>A	ENSP00000510265.1:n.*1770G>A
ENST00000693473.1:c.1595G>A
ENST00000371113.9:c.1478G>A MANE Select	ENSP00000360154.4:p.Arg493Gln
ENST00000646010.1:c.1526G>A
ENST00000646914.1:c.589G>A
ENST00000647245.1:c.1129G>A
ENST00000357121.5:c.1478G>A	ENSP00000349635.5:p.Arg493Gln
ENST00000371113.8:c.1478G>A	ENSP00000360154.4:p.Arg493Gln
NM_000276.3:c.1478G>A	NP_000267.2:p.Arg493Gln
NM_001587.3:c.1478G>A	NP_001578.2:p.Arg493Gln
XM_005262422.1:c.1007G>A	XP_005262479.1:p.Arg336Gln
XM_011531342.1:c.1481G>A	XP_011529644.1:p.Arg494Gln
XM_011531343.1:c.1481G>A	XP_011529645.1:p.Arg494Gln
XM_011531344.1:c.1334G>A	XP_011529646.1:p.Arg445Gln
XM_011531345.1:c.1334G>A	XP_011529647.1:p.Arg445Gln
XM_011531346.1:c.1481G>A	XP_011529648.1:p.Arg494Gln
NM_001318784.1:c.1481G>A	NP_001305713.1:p.Arg494Gln
XM_005262422.2:c.1007G>A	XP_005262479.1:p.Arg336Gln
XM_011531344.3:c.1334G>A	XP_011529646.1:p.Arg445Gln
XM_011531345.3:c.1334G>A	XP_011529647.1:p.Arg445Gln
XM_017029554.1:c.1478G>A	XP_016885043.1:p.Arg493Gln
NM_000276.4:c.1478G>A MANE Select	NP_000267.2:p.Arg493Gln
NM_001318784.2:c.1481G>A	NP_001305713.1:p.Arg494Gln
NM_001587.4:c.1478G>A	NP_001578.2:p.Arg493Gln