Canonical Allele Identifier: CA255583
Gene: OCRL HGNC NCBI

Linked Data

ClinVar Variation Id: 10858
ClinVar RCV Id: RCV000011605 RCV000724256
dbSNP Id: rs137853260
COSMIC: COSM203620
MyVariant Identifiers: chrX:g.128703273G>A (hg19) chrX:g.129569296G>A (hg38)
PubMed: PMID:9632163 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.129569296G>A , CM000685.2:g.129569296G>A GRCh38
NC_000023.10:g.128703273G>A , CM000685.1:g.128703273G>A GRCh37
NC_000023.9:g.128530954G>A NCBI36
NG_008638.1:g.34022G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691455.1:c.*1791G>A ENSP00000510265.1:n.*1791G>A
ENST00000693473.1:c.1616G>A
ENST00000371113.9:c.1499G>A MANE Select ENSP00000360154.4:p.Arg500Gln
ENST00000646010.1:c.1547G>A
ENST00000646914.1:c.610G>A
ENST00000647245.1:c.1150G>A
ENST00000357121.5:c.1499G>A ENSP00000349635.5:p.Arg500Gln
ENST00000371113.8:c.1499G>A ENSP00000360154.4:p.Arg500Gln
NM_000276.3:c.1499G>A NP_000267.2:p.Arg500Gln
NM_001587.3:c.1499G>A NP_001578.2:p.Arg500Gln
XM_005262422.1:c.1028G>A XP_005262479.1:p.Arg343Gln
XM_011531342.1:c.1502G>A XP_011529644.1:p.Arg501Gln
XM_011531343.1:c.1502G>A XP_011529645.1:p.Arg501Gln
XM_011531344.1:c.1355G>A XP_011529646.1:p.Arg452Gln
XM_011531345.1:c.1355G>A XP_011529647.1:p.Arg452Gln
XM_011531346.1:c.1502G>A XP_011529648.1:p.Arg501Gln
NM_001318784.1:c.1502G>A NP_001305713.1:p.Arg501Gln
XM_005262422.2:c.1028G>A XP_005262479.1:p.Arg343Gln
XM_011531344.3:c.1355G>A XP_011529646.1:p.Arg452Gln
XM_011531345.3:c.1355G>A XP_011529647.1:p.Arg452Gln
XM_017029554.1:c.1499G>A XP_016885043.1:p.Arg500Gln
NM_000276.4:c.1499G>A MANE Select NP_000267.2:p.Arg500Gln
NM_001318784.2:c.1502G>A NP_001305713.1:p.Arg501Gln
NM_001587.4:c.1499G>A NP_001578.2:p.Arg500Gln
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