Canonical Allele Identifier: CA16621196
Gene: OCRL HGNC NCBI

Linked Data

ClinVar Variation Id: 423653
ClinVar RCV Id: RCV000482529
dbSNP Id: rs1064796554

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.129540464G>A , CM000685.2:g.129540464G>A GRCh38
NC_000023.10:g.128674441G>A , CM000685.1:g.128674441G>A GRCh37
NC_000023.9:g.128502122G>A NCBI36
NG_008638.1:g.5190G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691455.1:c.25G>A ENSP00000510265.1:p.Ala9Thr
ENST00000371113.9:c.25G>A MANE Select ENSP00000360154.4:p.Ala9Thr
ENST00000357121.5:c.25G>A ENSP00000349635.5:p.Ala9Thr
ENST00000371113.8:c.25G>A ENSP00000360154.4:p.Ala9Thr
ENST00000486673.1:n.91+525G>A
NM_000276.3:c.25G>A NP_000267.2:p.Ala9Thr
NM_001587.3:c.25G>A NP_001578.2:p.Ala9Thr
XM_005262422.1:c.-353+525G>A XP_005262479.1:n.-353+525G>A
XM_011531342.1:c.25G>A XP_011529644.1:p.Ala9Thr
XM_011531343.1:c.25G>A XP_011529645.1:p.Ala9Thr
XM_011531344.1:c.-146-4494G>A XP_011529646.1:n.-146-4494G>A
XM_011531345.1:c.-147+525G>A XP_011529647.1:n.-147+525G>A
XM_011531346.1:c.25G>A XP_011529648.1:p.Ala9Thr
NM_001318784.1:c.25G>A NP_001305713.1:p.Ala9Thr
XM_005262422.2:c.-353+525G>A XP_005262479.1:n.-353+525G>A
XM_011531344.3:c.-146-4494G>A XP_011529646.1:n.-146-4494G>A
XM_011531345.3:c.-147+525G>A XP_011529647.1:n.-147+525G>A
XM_017029554.1:c.25G>A XP_016885043.1:p.Ala9Thr
NM_000276.4:c.25G>A MANE Select NP_000267.2:p.Ala9Thr
NM_001318784.2:c.25G>A NP_001305713.1:p.Ala9Thr
NM_001587.4:c.25G>A NP_001578.2:p.Ala9Thr