Canonical Allele Identifier: CA414632227

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128723883G>T (hg19) ; chrX:g.129589906G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589906G>T , CM000685.2:g.129589906G>T	GRCh38
NC_000023.10:g.128723883G>T , CM000685.1:g.128723883G>T	GRCh37
NC_000023.9:g.128551564G>T	NCBI36
NG_008638.1:g.54632G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000693473.1:c.2648G>T
ENST00000371113.9:c.2531G>T MANE Select	ENSP00000360154.4:p.Arg844Leu
ENST00000646010.1:c.2579G>T
ENST00000646914.1:c.1836G>T
ENST00000647245.1:c.2082G>T
ENST00000357121.5:c.2507G>T	ENSP00000349635.5:p.Arg836Leu
ENST00000371113.8:c.2531G>T	ENSP00000360154.4:p.Arg844Leu
ENST00000463271.1:n.318G>T
NM_000276.3:c.2531G>T	NP_000267.2:p.Arg844Leu
NM_001587.3:c.2507G>T	NP_001578.2:p.Arg836Leu
XM_005262422.1:c.2060G>T	XP_005262479.1:p.Arg687Leu
XM_011531342.1:c.2534G>T	XP_011529644.1:p.Arg845Leu
XM_011531343.1:c.2510G>T	XP_011529645.1:p.Arg837Leu
XM_011531344.1:c.2387G>T	XP_011529646.1:p.Arg796Leu
XM_011531345.1:c.2387G>T	XP_011529647.1:p.Arg796Leu
NM_001318784.1:c.2534G>T	NP_001305713.1:p.Arg845Leu
XM_005262422.2:c.2060G>T	XP_005262479.1:p.Arg687Leu
XM_011531344.3:c.2387G>T	XP_011529646.1:p.Arg796Leu
XM_011531345.3:c.2387G>T	XP_011529647.1:p.Arg796Leu
NM_000276.4:c.2531G>T MANE Select	NP_000267.2:p.Arg844Leu
NM_001318784.2:c.2534G>T	NP_001305713.1:p.Arg845Leu
NM_001587.4:c.2507G>T	NP_001578.2:p.Arg836Leu