Canonical Allele Identifier: CA275039

Gene: OCRL

Linked Data

• ClinVar Variation Id: 194704
• ClinVar RCV Id: RCV000175133 ; RCV001380038
• dbSNP Id: rs794727182
• MyVariant Identifiers: chrX:g.128709873G>A (hg19) ; chrX:g.129575896G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129575896G>A , CM000685.2:g.129575896G>A	GRCh38
NC_000023.10:g.128709873G>A , CM000685.1:g.128709873G>A	GRCh37
NC_000023.9:g.128537554G>A	NCBI36
NG_008638.1:g.40622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.*2006-1G>A	ENSP00000510265.1:n.*2006-1G>A
ENST00000693473.1:c.1831-1G>A
ENST00000371113.9:c.1714-1G>A MANE Select	ENSP00000360154.4:n.1714-1G>A
ENST00000646010.1:c.1762-1G>A
ENST00000646914.1:c.891-1G>A
ENST00000647245.1:c.1430+177G>A
ENST00000357121.5:c.1714-1G>A	ENSP00000349635.5:n.1714-1G>A
ENST00000371113.8:c.1714-1G>A	ENSP00000360154.4:n.1714-1G>A
NM_000276.3:c.1714-1G>A	NP_000267.2:n.1714-1G>A
NM_001587.3:c.1714-1G>A	NP_001578.2:n.1714-1G>A
XM_005262422.1:c.1243-1G>A	XP_005262479.1:n.1243-1G>A
XM_011531342.1:c.1717-1G>A	XP_011529644.1:n.1717-1G>A
XM_011531343.1:c.1717-1G>A	XP_011529645.1:n.1717-1G>A
XM_011531344.1:c.1570-1G>A	XP_011529646.1:n.1570-1G>A
XM_011531345.1:c.1570-1G>A	XP_011529647.1:n.1570-1G>A
XM_011531346.1:c.1717-1G>A	XP_011529648.1:n.1717-1G>A
NM_001318784.1:c.1717-1G>A	NP_001305713.1:n.1717-1G>A
XM_005262422.2:c.1243-1G>A	XP_005262479.1:n.1243-1G>A
XM_011531344.3:c.1570-1G>A	XP_011529646.1:n.1570-1G>A
XM_011531345.3:c.1570-1G>A	XP_011529647.1:n.1570-1G>A
XM_017029554.1:c.1714-1G>A	XP_016885043.1:n.1714-1G>A
NM_000276.4:c.1714-1G>A MANE Select	NP_000267.2:n.1714-1G>A
NM_001318784.2:c.1717-1G>A	NP_001305713.1:n.1717-1G>A
NM_001587.4:c.1714-1G>A	NP_001578.2:n.1714-1G>A