Canonical Allele Identifier: CA345320
Gene: OCRL HGNC NCBI

Linked Data

ClinVar Variation Id: 68712
ClinVar RCV Id: RCV000059593
dbSNP Id: rs137853846
MyVariant Identifiers: chrX:g.128703251C>T (hg19) chrX:g.129569274C>T (hg38)
PubMed: PMID:17384968 PMID:22876375 PMID:24081861
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.129569274C>T , CM000685.2:g.129569274C>T GRCh38
NC_000023.10:g.128703251C>T , CM000685.1:g.128703251C>T GRCh37
NC_000023.9:g.128530932C>T NCBI36
NG_008638.1:g.34000C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691455.1:c.*1769C>T ENSP00000510265.1:n.*1769C>T
ENST00000693473.1:c.1594C>T
ENST00000371113.9:c.1477C>T MANE Select ENSP00000360154.4:p.Arg493Trp
ENST00000646010.1:c.1525C>T
ENST00000646914.1:c.588C>T
ENST00000647245.1:c.1128C>T
ENST00000357121.5:c.1477C>T ENSP00000349635.5:p.Arg493Trp
ENST00000371113.8:c.1477C>T ENSP00000360154.4:p.Arg493Trp
NM_000276.3:c.1477C>T NP_000267.2:p.Arg493Trp
NM_001587.3:c.1477C>T NP_001578.2:p.Arg493Trp
XM_005262422.1:c.1006C>T XP_005262479.1:p.Arg336Trp
XM_011531342.1:c.1480C>T XP_011529644.1:p.Arg494Trp
XM_011531343.1:c.1480C>T XP_011529645.1:p.Arg494Trp
XM_011531344.1:c.1333C>T XP_011529646.1:p.Arg445Trp
XM_011531345.1:c.1333C>T XP_011529647.1:p.Arg445Trp
XM_011531346.1:c.1480C>T XP_011529648.1:p.Arg494Trp
NM_001318784.1:c.1480C>T NP_001305713.1:p.Arg494Trp
XM_005262422.2:c.1006C>T XP_005262479.1:p.Arg336Trp
XM_011531344.3:c.1333C>T XP_011529646.1:p.Arg445Trp
XM_011531345.3:c.1333C>T XP_011529647.1:p.Arg445Trp
XM_017029554.1:c.1477C>T XP_016885043.1:p.Arg493Trp
NM_000276.4:c.1477C>T MANE Select NP_000267.2:p.Arg493Trp
NM_001318784.2:c.1480C>T NP_001305713.1:p.Arg494Trp
NM_001587.4:c.1477C>T NP_001578.2:p.Arg493Trp
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