Canonical Allele Identifier: CA414632270

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128723889T>A (hg19) ; chrX:g.129589912T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589912T>A , CM000685.2:g.129589912T>A	GRCh38
NC_000023.10:g.128723889T>A , CM000685.1:g.128723889T>A	GRCh37
NC_000023.9:g.128551570T>A	NCBI36
NG_008638.1:g.54638T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693473.1:c.2654T>A
ENST00000371113.9:c.2537T>A MANE Select	ENSP00000360154.4:p.Leu846His
ENST00000646010.1:c.2585T>A
ENST00000646914.1:c.1842T>A
ENST00000647245.1:c.2088T>A
ENST00000357121.5:c.2513T>A	ENSP00000349635.5:p.Leu838His
ENST00000371113.8:c.2537T>A	ENSP00000360154.4:p.Leu846His
ENST00000463271.1:n.324T>A
NM_000276.3:c.2537T>A	NP_000267.2:p.Leu846His
NM_001587.3:c.2513T>A	NP_001578.2:p.Leu838His
XM_005262422.1:c.2066T>A	XP_005262479.1:p.Leu689His
XM_011531342.1:c.2540T>A	XP_011529644.1:p.Leu847His
XM_011531343.1:c.2516T>A	XP_011529645.1:p.Leu839His
XM_011531344.1:c.2393T>A	XP_011529646.1:p.Leu798His
XM_011531345.1:c.2393T>A	XP_011529647.1:p.Leu798His
NM_001318784.1:c.2540T>A	NP_001305713.1:p.Leu847His
XM_005262422.2:c.2066T>A	XP_005262479.1:p.Leu689His
XM_011531344.3:c.2393T>A	XP_011529646.1:p.Leu798His
XM_011531345.3:c.2393T>A	XP_011529647.1:p.Leu798His
NM_000276.4:c.2537T>A MANE Select	NP_000267.2:p.Leu846His
NM_001318784.2:c.2540T>A	NP_001305713.1:p.Leu847His
NM_001587.4:c.2513T>A	NP_001578.2:p.Leu838His