Canonical Allele Identifier: CA518546421

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128723890C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589913C>G , CM000685.2:g.129589913C>G	GRCh38
NC_000023.10:g.128723890C>G , CM000685.1:g.128723890C>G	GRCh37
NC_000023.9:g.128551571C>G	NCBI36
NG_008638.1:g.54639C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693473.1:c.2655C>G
ENST00000371113.9:c.2538C>G MANE Select	ENSP00000360154.4:p.Leu846=
ENST00000646010.1:c.2586C>G
ENST00000646914.1:c.1843C>G
ENST00000647245.1:c.2089C>G
ENST00000357121.5:c.2514C>G	ENSP00000349635.5:p.Leu838=
ENST00000371113.8:c.2538C>G	ENSP00000360154.4:p.Leu846=
ENST00000463271.1:n.325C>G
NM_000276.3:c.2538C>G	NP_000267.2:p.Leu846=
NM_001587.3:c.2514C>G	NP_001578.2:p.Leu838=
XM_005262422.1:c.2067C>G	XP_005262479.1:p.Leu689=
XM_011531342.1:c.2541C>G	XP_011529644.1:p.Leu847=
XM_011531343.1:c.2517C>G	XP_011529645.1:p.Leu839=
XM_011531344.1:c.2394C>G	XP_011529646.1:p.Leu798=
XM_011531345.1:c.2394C>G	XP_011529647.1:p.Leu798=
NM_001318784.1:c.2541C>G	NP_001305713.1:p.Leu847=
XM_005262422.2:c.2067C>G	XP_005262479.1:p.Leu689=
XM_011531344.3:c.2394C>G	XP_011529646.1:p.Leu798=
XM_011531345.3:c.2394C>G	XP_011529647.1:p.Leu798=
NM_000276.4:c.2538C>G MANE Select	NP_000267.2:p.Leu846=
NM_001318784.2:c.2541C>G	NP_001305713.1:p.Leu847=
NM_001587.4:c.2514C>G	NP_001578.2:p.Leu838=