Canonical Allele Identifier: CA414616562

Gene: OCRL

Linked Data

• dbSNP Id: rs1378041003
• gnomAD v3: X-129569385-C-G
• gnomAD v4: X-129569385-C-G
• MyVariant Identifiers: chrX:g.128703362C>G (hg19) ; chrX:g.129569385C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129569385C>G , CM000685.2:g.129569385C>G	GRCh38
NC_000023.10:g.128703362C>G , CM000685.1:g.128703362C>G	GRCh37
NC_000023.9:g.128531043C>G	NCBI36
NG_008638.1:g.34111C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.*1880C>G	ENSP00000510265.1:n.*1880C>G
ENST00000693473.1:c.1705C>G
ENST00000371113.9:c.1588C>G MANE Select	ENSP00000360154.4:p.Leu530Val
ENST00000646010.1:c.1636C>G
ENST00000646914.1:c.699C>G
ENST00000647245.1:c.1239C>G
ENST00000357121.5:c.1588C>G	ENSP00000349635.5:p.Leu530Val
ENST00000371113.8:c.1588C>G	ENSP00000360154.4:p.Leu530Val
NM_000276.3:c.1588C>G	NP_000267.2:p.Leu530Val
NM_001587.3:c.1588C>G	NP_001578.2:p.Leu530Val
XM_005262422.1:c.1117C>G	XP_005262479.1:p.Leu373Val
XM_011531342.1:c.1591C>G	XP_011529644.1:p.Leu531Val
XM_011531343.1:c.1591C>G	XP_011529645.1:p.Leu531Val
XM_011531344.1:c.1444C>G	XP_011529646.1:p.Leu482Val
XM_011531345.1:c.1444C>G	XP_011529647.1:p.Leu482Val
XM_011531346.1:c.1591C>G	XP_011529648.1:p.Leu531Val
NM_001318784.1:c.1591C>G	NP_001305713.1:p.Leu531Val
XM_005262422.2:c.1117C>G	XP_005262479.1:p.Leu373Val
XM_011531344.3:c.1444C>G	XP_011529646.1:p.Leu482Val
XM_011531345.3:c.1444C>G	XP_011529647.1:p.Leu482Val
XM_017029554.1:c.1588C>G	XP_016885043.1:p.Leu530Val
NM_000276.4:c.1588C>G MANE Select	NP_000267.2:p.Leu530Val
NM_001318784.2:c.1591C>G	NP_001305713.1:p.Leu531Val
NM_001587.4:c.1588C>G	NP_001578.2:p.Leu530Val