Canonical Allele Identifier: CA414551722

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129558922C>T , CM000685.2:g.129558922C>T	GRCh38
NC_000023.10:g.128692899C>T , CM000685.1:g.128692899C>T	GRCh37
NC_000023.9:g.128520580C>T	NCBI36
NG_008638.1:g.23648C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.643C>T MANE Select	NP_000267.2:p.Gln215Ter
ENST00000371113.9:c.643C>T MANE Select	ENSP00000360154.4:p.Gln215Ter
NM_000276.3:c.643C>T	NP_000267.2:p.Gln215Ter
NM_001318784.1:c.646C>T	NP_001305713.1:p.Gln216Ter
NM_001318784.2:c.646C>T	NP_001305713.1:p.Gln216Ter
NM_001587.3:c.643C>T	NP_001578.2:p.Gln215Ter
NM_001587.4:c.643C>T	NP_001578.2:p.Gln215Ter
ENST00000357121.5:c.643C>T	ENSP00000349635.5:p.Gln215Ter
ENST00000371113.8:c.643C>T	ENSP00000360154.4:p.Gln215Ter
ENST00000486673.1:n.885C>T
ENST00000646010.1:c.691C>T
ENST00000647245.1:c.294C>T
ENST00000689093.1:c.1720C>T
ENST00000691455.1:c.*935C>T	ENSP00000510265.1:n.*935C>T
ENST00000693473.1:c.760C>T
XM_005262422.1:c.172C>T	XP_005262479.1:p.Gln58Ter
XM_005262422.2:c.172C>T	XP_005262479.1:p.Gln58Ter
XM_011531342.1:c.646C>T	XP_011529644.1:p.Gln216Ter
XM_011531343.1:c.646C>T	XP_011529645.1:p.Gln216Ter
XM_011531344.1:c.499C>T	XP_011529646.1:p.Gln167Ter
XM_011531344.3:c.499C>T	XP_011529646.1:p.Gln167Ter
XM_011531345.1:c.499C>T	XP_011529647.1:p.Gln167Ter
XM_011531345.3:c.499C>T	XP_011529647.1:p.Gln167Ter
XM_011531346.1:c.646C>T	XP_011529648.1:p.Gln216Ter
XM_017029554.1:c.643C>T	XP_016885043.1:p.Gln215Ter