Canonical Allele Identifier: CA10512387

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589938G>A , CM000685.2:g.129589938G>A	GRCh38
NC_000023.10:g.128723915G>A , CM000685.1:g.128723915G>A	GRCh37
NC_000023.9:g.128551596G>A	NCBI36
NG_008638.1:g.54664G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.2563G>A MANE Select	NP_000267.2:p.Val855Ile
ENST00000371113.9:c.2563G>A MANE Select	ENSP00000360154.4:p.Val855Ile
NM_000276.3:c.2563G>A	NP_000267.2:p.Val855Ile
NM_001318784.1:c.2566G>A	NP_001305713.1:p.Val856Ile
NM_001318784.2:c.2566G>A	NP_001305713.1:p.Val856Ile
NM_001587.3:c.2539G>A	NP_001578.2:p.Val847Ile
NM_001587.4:c.2539G>A	NP_001578.2:p.Val847Ile
ENST00000357121.5:c.2539G>A	ENSP00000349635.5:p.Val847Ile
ENST00000371113.8:c.2563G>A	ENSP00000360154.4:p.Val855Ile
ENST00000463271.1:n.350G>A
ENST00000646010.1:c.2611G>A
ENST00000646914.1:c.1868G>A
ENST00000647245.1:c.2114G>A
ENST00000693473.1:c.2680G>A
XM_005262422.1:c.2092G>A	XP_005262479.1:p.Val698Ile
XM_005262422.2:c.2092G>A	XP_005262479.1:p.Val698Ile
XM_011531342.1:c.2566G>A	XP_011529644.1:p.Val856Ile
XM_011531343.1:c.2542G>A	XP_011529645.1:p.Val848Ile
XM_011531344.1:c.2419G>A	XP_011529646.1:p.Val807Ile
XM_011531344.3:c.2419G>A	XP_011529646.1:p.Val807Ile
XM_011531345.1:c.2419G>A	XP_011529647.1:p.Val807Ile
XM_011531345.3:c.2419G>A	XP_011529647.1:p.Val807Ile