Canonical Allele Identifier: CA414632288

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128723891T>G (hg19) ; chrX:g.129589914T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589914T>G , CM000685.2:g.129589914T>G	GRCh38
NC_000023.10:g.128723891T>G , CM000685.1:g.128723891T>G	GRCh37
NC_000023.9:g.128551572T>G	NCBI36
NG_008638.1:g.54640T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693473.1:c.2656T>G
ENST00000371113.9:c.2539T>G MANE Select	ENSP00000360154.4:p.Leu847Val
ENST00000646010.1:c.2587T>G
ENST00000646914.1:c.1844T>G
ENST00000647245.1:c.2090T>G
ENST00000357121.5:c.2515T>G	ENSP00000349635.5:p.Leu839Val
ENST00000371113.8:c.2539T>G	ENSP00000360154.4:p.Leu847Val
ENST00000463271.1:n.326T>G
NM_000276.3:c.2539T>G	NP_000267.2:p.Leu847Val
NM_001587.3:c.2515T>G	NP_001578.2:p.Leu839Val
XM_005262422.1:c.2068T>G	XP_005262479.1:p.Leu690Val
XM_011531342.1:c.2542T>G	XP_011529644.1:p.Leu848Val
XM_011531343.1:c.2518T>G	XP_011529645.1:p.Leu840Val
XM_011531344.1:c.2395T>G	XP_011529646.1:p.Leu799Val
XM_011531345.1:c.2395T>G	XP_011529647.1:p.Leu799Val
NM_001318784.1:c.2542T>G	NP_001305713.1:p.Leu848Val
XM_005262422.2:c.2068T>G	XP_005262479.1:p.Leu690Val
XM_011531344.3:c.2395T>G	XP_011529646.1:p.Leu799Val
XM_011531345.3:c.2395T>G	XP_011529647.1:p.Leu799Val
NM_000276.4:c.2539T>G MANE Select	NP_000267.2:p.Leu847Val
NM_001318784.2:c.2542T>G	NP_001305713.1:p.Leu848Val
NM_001587.4:c.2515T>G	NP_001578.2:p.Leu839Val