Canonical Allele Identifier: CA2458099444
Gene: OCRL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.129562388A= , CM000685.2:g.129562388A= GRCh38
NC_000023.10:g.128696365A= , CM000685.1:g.128696365A= GRCh37
NC_000023.9:g.128524046A= NCBI36
NG_008638.1:g.27114A=

Transcript Alleles

HGVS Amino-acid change
ENST00000691455.1:c.*1236A= ENSP00000510265.1:n.*1236A=
ENST00000693473.1:c.1061A=
ENST00000371113.9:c.944A= MANE Select ENSP00000360154.4:p.Gln315=
ENST00000646010.1:c.992A=
ENST00000646914.1:c.55A=
ENST00000647245.1:c.595A=
ENST00000357121.5:c.944A= ENSP00000349635.5:p.Gln315=
ENST00000371113.8:c.944A= ENSP00000360154.4:p.Gln315=
NM_000276.3:c.944A= NP_000267.2:p.Gln315=
NM_001587.3:c.944A= NP_001578.2:p.Gln315=
XM_005262422.1:c.473A= XP_005262479.1:p.Gln158=
XM_011531342.1:c.947A= XP_011529644.1:p.Gln316=
XM_011531343.1:c.947A= XP_011529645.1:p.Gln316=
XM_011531344.1:c.800A= XP_011529646.1:p.Gln267=
XM_011531345.1:c.800A= XP_011529647.1:p.Gln267=
XM_011531346.1:c.947A= XP_011529648.1:p.Gln316=
NM_001318784.1:c.947A= NP_001305713.1:p.Gln316=
XM_005262422.2:c.473A= XP_005262479.1:p.Gln158=
XM_011531344.3:c.800A= XP_011529646.1:p.Gln267=
XM_011531345.3:c.800A= XP_011529647.1:p.Gln267=
XM_017029554.1:c.944A= XP_016885043.1:p.Gln315=
NM_000276.4:c.944A= MANE Select NP_000267.2:p.Gln315=
NM_001318784.2:c.947A= NP_001305713.1:p.Gln316=
NM_001587.4:c.944A= NP_001578.2:p.Gln315=