Canonical Allele Identifier: CA10512414

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129590244T>A , CM000685.2:g.129590244T>A	GRCh38
NC_000023.10:g.128724221T>A , CM000685.1:g.128724221T>A	GRCh37
NC_000023.9:g.128551902T>A	NCBI36
NG_008638.1:g.54970T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.2680T>A MANE Select	NP_000267.2:p.Phe894Ile
ENST00000371113.9:c.2680T>A MANE Select	ENSP00000360154.4:p.Phe894Ile
NM_000276.3:c.2680T>A	NP_000267.2:p.Phe894Ile
NM_001318784.1:c.2683T>A	NP_001305713.1:p.Phe895Ile
NM_001318784.2:c.2683T>A	NP_001305713.1:p.Phe895Ile
NM_001587.3:c.2656T>A	NP_001578.2:p.Phe886Ile
NM_001587.4:c.2656T>A	NP_001578.2:p.Phe886Ile
ENST00000357121.5:c.2656T>A	ENSP00000349635.5:p.Phe886Ile
ENST00000371113.8:c.2680T>A	ENSP00000360154.4:p.Phe894Ile
ENST00000463271.1:n.467T>A
ENST00000646010.1:c.2728T>A
ENST00000646914.1:c.1985T>A
ENST00000647245.1:c.2231T>A
ENST00000693473.1:c.2797T>A
XM_005262422.1:c.2209T>A	XP_005262479.1:p.Phe737Ile
XM_005262422.2:c.2209T>A	XP_005262479.1:p.Phe737Ile
XM_011531342.1:c.2683T>A	XP_011529644.1:p.Phe895Ile
XM_011531343.1:c.2659T>A	XP_011529645.1:p.Phe887Ile
XM_011531344.1:c.2536T>A	XP_011529646.1:p.Phe846Ile
XM_011531344.3:c.2536T>A	XP_011529646.1:p.Phe846Ile
XM_011531345.1:c.2536T>A	XP_011529647.1:p.Phe846Ile
XM_011531345.3:c.2536T>A	XP_011529647.1:p.Phe846Ile