Canonical Allele Identifier: CA414632266

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128723888C>A (hg19) ; chrX:g.129589911C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589911C>A , CM000685.2:g.129589911C>A	GRCh38
NC_000023.10:g.128723888C>A , CM000685.1:g.128723888C>A	GRCh37
NC_000023.9:g.128551569C>A	NCBI36
NG_008638.1:g.54637C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000693473.1:c.2653C>A
ENST00000371113.9:c.2536C>A MANE Select	ENSP00000360154.4:p.Leu846Ile
ENST00000646010.1:c.2584C>A
ENST00000646914.1:c.1841C>A
ENST00000647245.1:c.2087C>A
ENST00000357121.5:c.2512C>A	ENSP00000349635.5:p.Leu838Ile
ENST00000371113.8:c.2536C>A	ENSP00000360154.4:p.Leu846Ile
ENST00000463271.1:n.323C>A
NM_000276.3:c.2536C>A	NP_000267.2:p.Leu846Ile
NM_001587.3:c.2512C>A	NP_001578.2:p.Leu838Ile
XM_005262422.1:c.2065C>A	XP_005262479.1:p.Leu689Ile
XM_011531342.1:c.2539C>A	XP_011529644.1:p.Leu847Ile
XM_011531343.1:c.2515C>A	XP_011529645.1:p.Leu839Ile
XM_011531344.1:c.2392C>A	XP_011529646.1:p.Leu798Ile
XM_011531345.1:c.2392C>A	XP_011529647.1:p.Leu798Ile
NM_001318784.1:c.2539C>A	NP_001305713.1:p.Leu847Ile
XM_005262422.2:c.2065C>A	XP_005262479.1:p.Leu689Ile
XM_011531344.3:c.2392C>A	XP_011529646.1:p.Leu798Ile
XM_011531345.3:c.2392C>A	XP_011529647.1:p.Leu798Ile
NM_000276.4:c.2536C>A MANE Select	NP_000267.2:p.Leu846Ile
NM_001318784.2:c.2539C>A	NP_001305713.1:p.Leu847Ile
NM_001587.4:c.2512C>A	NP_001578.2:p.Leu838Ile