Canonical Allele Identifier: CA10603588

Gene: OCRL

Linked Data

• ClinVar Variation Id: 279859
• ClinVar RCV Id: RCV000338582 ; RCV000590981 ; RCV001335218 ; RCV002274006 ; RCV001855052
• dbSNP Id: rs776743373
• MyVariant Identifiers: chrX:g.128696350G>A (hg19) ; chrX:g.129562373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129562373G>A , CM000685.2:g.129562373G>A	GRCh38
NC_000023.10:g.128696350G>A , CM000685.1:g.128696350G>A	GRCh37
NC_000023.9:g.128524031G>A	NCBI36
NG_008638.1:g.27099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.*1232-11G>A	ENSP00000510265.1:n.*1232-11G>A
ENST00000693473.1:c.1057-11G>A
ENST00000371113.9:c.940-11G>A MANE Select	ENSP00000360154.4:n.940-11G>A
ENST00000646010.1:c.988-11G>A
ENST00000646914.1:c.51-11G>A
ENST00000647245.1:c.591-11G>A
ENST00000357121.5:c.940-11G>A	ENSP00000349635.5:n.940-11G>A
ENST00000371113.8:c.940-11G>A	ENSP00000360154.4:n.940-11G>A
NM_000276.3:c.940-11G>A	NP_000267.2:n.940-11G>A
NM_001587.3:c.940-11G>A	NP_001578.2:n.940-11G>A
XM_005262422.1:c.469-11G>A	XP_005262479.1:n.469-11G>A
XM_011531342.1:c.943-11G>A	XP_011529644.1:n.943-11G>A
XM_011531343.1:c.943-11G>A	XP_011529645.1:n.943-11G>A
XM_011531344.1:c.796-11G>A	XP_011529646.1:n.796-11G>A
XM_011531345.1:c.796-11G>A	XP_011529647.1:n.796-11G>A
XM_011531346.1:c.943-11G>A	XP_011529648.1:n.943-11G>A
NM_001318784.1:c.943-11G>A	NP_001305713.1:n.943-11G>A
XM_005262422.2:c.469-11G>A	XP_005262479.1:n.469-11G>A
XM_011531344.3:c.796-11G>A	XP_011529646.1:n.796-11G>A
XM_011531345.3:c.796-11G>A	XP_011529647.1:n.796-11G>A
XM_017029554.1:c.940-11G>A	XP_016885043.1:n.940-11G>A
NM_000276.4:c.940-11G>A MANE Select	NP_000267.2:n.940-11G>A
NM_001318784.2:c.943-11G>A	NP_001305713.1:n.943-11G>A
NM_001587.4:c.940-11G>A	NP_001578.2:n.940-11G>A