Canonical Allele Identifier: CA266150
Gene: OCRL HGNC NCBI

Linked Data

ClinVar Variation Id: 68707
ClinVar RCV Id: RCV000059588
dbSNP Id: rs137853850

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.129565879A>G , CM000685.2:g.129565879A>G GRCh38
NC_000023.10:g.128699856A>G , CM000685.1:g.128699856A>G GRCh37
NC_000023.9:g.128527537A>G NCBI36
NG_008638.1:g.30605A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691455.1:c.*1644A>G ENSP00000510265.1:n.*1644A>G
ENST00000693473.1:c.1469A>G
ENST00000371113.9:c.1352A>G MANE Select ENSP00000360154.4:p.Asp451Gly
ENST00000646010.1:c.1400A>G
ENST00000646914.1:c.463A>G
ENST00000647245.1:c.1003A>G
ENST00000357121.5:c.1352A>G ENSP00000349635.5:p.Asp451Gly
ENST00000371113.8:c.1352A>G ENSP00000360154.4:p.Asp451Gly
NM_000276.3:c.1352A>G NP_000267.2:p.Asp451Gly
NM_001587.3:c.1352A>G NP_001578.2:p.Asp451Gly
XM_005262422.1:c.881A>G XP_005262479.1:p.Asp294Gly
XM_011531342.1:c.1355A>G XP_011529644.1:p.Asp452Gly
XM_011531343.1:c.1355A>G XP_011529645.1:p.Asp452Gly
XM_011531344.1:c.1208A>G XP_011529646.1:p.Asp403Gly
XM_011531345.1:c.1208A>G XP_011529647.1:p.Asp403Gly
XM_011531346.1:c.1355A>G XP_011529648.1:p.Asp452Gly
NM_001318784.1:c.1355A>G NP_001305713.1:p.Asp452Gly
XM_005262422.2:c.881A>G XP_005262479.1:p.Asp294Gly
XM_011531344.3:c.1208A>G XP_011529646.1:p.Asp403Gly
XM_011531345.3:c.1208A>G XP_011529647.1:p.Asp403Gly
XM_017029554.1:c.1352A>G XP_016885043.1:p.Asp451Gly
NM_000276.4:c.1352A>G MANE Select NP_000267.2:p.Asp451Gly
NM_001318784.2:c.1355A>G NP_001305713.1:p.Asp452Gly
NM_001587.4:c.1352A>G NP_001578.2:p.Asp451Gly