Canonical Allele Identifier: CA414632295

Gene: OCRL

Linked Data

• dbSNP Id: rs1936565454
• MyVariant Identifiers: chrX:g.128723892T>G (hg19) ; chrX:g.129589915T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589915T>G , CM000685.2:g.129589915T>G	GRCh38
NC_000023.10:g.128723892T>G , CM000685.1:g.128723892T>G	GRCh37
NC_000023.9:g.128551573T>G	NCBI36
NG_008638.1:g.54641T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000693473.1:c.2657T>G
ENST00000371113.9:c.2540T>G MANE Select	ENSP00000360154.4:p.Leu847Ter
ENST00000646010.1:c.2588T>G
ENST00000646914.1:c.1845T>G
ENST00000647245.1:c.2091T>G
ENST00000357121.5:c.2516T>G	ENSP00000349635.5:p.Leu839Ter
ENST00000371113.8:c.2540T>G	ENSP00000360154.4:p.Leu847Ter
ENST00000463271.1:n.327T>G
NM_000276.3:c.2540T>G	NP_000267.2:p.Leu847Ter
NM_001587.3:c.2516T>G	NP_001578.2:p.Leu839Ter
XM_005262422.1:c.2069T>G	XP_005262479.1:p.Leu690Ter
XM_011531342.1:c.2543T>G	XP_011529644.1:p.Leu848Ter
XM_011531343.1:c.2519T>G	XP_011529645.1:p.Leu840Ter
XM_011531344.1:c.2396T>G	XP_011529646.1:p.Leu799Ter
XM_011531345.1:c.2396T>G	XP_011529647.1:p.Leu799Ter
NM_001318784.1:c.2543T>G	NP_001305713.1:p.Leu848Ter
XM_005262422.2:c.2069T>G	XP_005262479.1:p.Leu690Ter
XM_011531344.3:c.2396T>G	XP_011529646.1:p.Leu799Ter
XM_011531345.3:c.2396T>G	XP_011529647.1:p.Leu799Ter
NM_000276.4:c.2540T>G MANE Select	NP_000267.2:p.Leu847Ter
NM_001318784.2:c.2543T>G	NP_001305713.1:p.Leu848Ter
NM_001587.4:c.2516T>G	NP_001578.2:p.Leu839Ter