Canonical Allele Identifier: CA658684328

Gene: OCRL

Linked Data

• ClinVar Variation Id: 493546
• ClinVar RCV Id: RCV000585017
• dbSNP Id: rs1556356726
• MyVariant Identifiers: chrX:g.128718348A>G (hg19) ; chrX:g.129584371A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129584371A>G , CM000685.2:g.129584371A>G	GRCh38
NC_000023.10:g.128718348A>G , CM000685.1:g.128718348A>G	GRCh37
NC_000023.9:g.128546029A>G	NCBI36
NG_008638.1:g.49097A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693473.1:c.2256+4A>G
ENST00000371113.9:c.2139+4A>G MANE Select	ENSP00000360154.4:n.2139+4A>G
ENST00000646010.1:c.2187+4A>G
ENST00000646914.1:c.1316+4A>G
ENST00000647245.1:c.1690+4A>G
ENST00000357121.5:c.2116-2631A>G	ENSP00000349635.5:n.2116-2631A>G
ENST00000371113.8:c.2139+4A>G	ENSP00000360154.4:n.2139+4A>G
NM_000276.3:c.2139+4A>G	NP_000267.2:n.2139+4A>G
NM_001587.3:c.2116-2631A>G	NP_001578.2:n.2116-2631A>G
XM_005262422.1:c.1668+4A>G	XP_005262479.1:n.1668+4A>G
XM_011531342.1:c.2142+4A>G	XP_011529644.1:n.2142+4A>G
XM_011531343.1:c.2119-2631A>G	XP_011529645.1:n.2119-2631A>G
XM_011531344.1:c.1995+4A>G	XP_011529646.1:n.1995+4A>G
XM_011531345.1:c.1995+4A>G	XP_011529647.1:n.1995+4A>G
XM_011531346.1:c.2142+4A>G	XP_011529648.1:n.2142+4A>G
NM_001318784.1:c.2142+4A>G	NP_001305713.1:n.2142+4A>G
XM_005262422.2:c.1668+4A>G	XP_005262479.1:n.1668+4A>G
XM_011531344.3:c.1995+4A>G	XP_011529646.1:n.1995+4A>G
XM_011531345.3:c.1995+4A>G	XP_011529647.1:n.1995+4A>G
XM_017029554.1:c.2139+4A>G	XP_016885043.1:n.2139+4A>G
NM_000276.4:c.2139+4A>G MANE Select	NP_000267.2:n.2139+4A>G
NM_001318784.2:c.2142+4A>G	NP_001305713.1:n.2142+4A>G
NM_001587.4:c.2116-2631A>G	NP_001578.2:n.2116-2631A>G