Canonical Allele Identifier: CA414632302

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128723892T>C (hg19) ; chrX:g.129589915T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693473.1:c.2657T>C
ENST00000371113.9:c.2540T>C MANE Select	ENSP00000360154.4:p.Leu847Ser
ENST00000646010.1:c.2588T>C
ENST00000646914.1:c.1845T>C
ENST00000647245.1:c.2091T>C
ENST00000357121.5:c.2516T>C	ENSP00000349635.5:p.Leu839Ser
ENST00000371113.8:c.2540T>C	ENSP00000360154.4:p.Leu847Ser
ENST00000463271.1:n.327T>C
NM_000276.3:c.2540T>C	NP_000267.2:p.Leu847Ser
NM_001587.3:c.2516T>C	NP_001578.2:p.Leu839Ser
XM_005262422.1:c.2069T>C	XP_005262479.1:p.Leu690Ser
XM_011531342.1:c.2543T>C	XP_011529644.1:p.Leu848Ser
XM_011531343.1:c.2519T>C	XP_011529645.1:p.Leu840Ser
XM_011531344.1:c.2396T>C	XP_011529646.1:p.Leu799Ser
XM_011531345.1:c.2396T>C	XP_011529647.1:p.Leu799Ser
NM_001318784.1:c.2543T>C	NP_001305713.1:p.Leu848Ser
XM_005262422.2:c.2069T>C	XP_005262479.1:p.Leu690Ser
XM_011531344.3:c.2396T>C	XP_011529646.1:p.Leu799Ser
XM_011531345.3:c.2396T>C	XP_011529647.1:p.Leu799Ser
NM_000276.4:c.2540T>C MANE Select	NP_000267.2:p.Leu847Ser
NM_001318784.2:c.2543T>C	NP_001305713.1:p.Leu848Ser
NM_001587.4:c.2516T>C	NP_001578.2:p.Leu839Ser