Canonical Allele Identifier: CA384415596

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2587292
• ClinVar RCV Id: RCV003360785
• MyVariant Identifiers: chr12:g.40692952A>T (hg19) ; chr12:g.40299150A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40299150A>T , CM000674.2:g.40299150A>T	GRCh38
NC_000012.11:g.40692952A>T , CM000674.1:g.40692952A>T	GRCh37
NC_000012.10:g.38979219A>T	NCBI36
NG_011709.1:g.79140A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.3389A>T MANE Select	ENSP00000298910.7:p.Glu1130Val
ENST00000679360.1:c.*2298A>T	ENSP00000505368.1:n.*2298A>T
ENST00000680790.1:c.3134A>T	ENSP00000505335.1:p.Glu1045Val
ENST00000298910.11:c.3389A>T	ENSP00000298910.7:p.Glu1130Val
ENST00000343742.6:c.3389A>T	ENSP00000341930.2:p.Glu1130Val
ENST00000430804.5:c.433A>T
ENST00000479187.5:n.70A>T
NM_198578.3:c.3389A>T	NP_940980.3:p.Glu1130Val
XM_005268629.2:c.3389A>T	XP_005268686.1:p.Glu1130Val
XM_011537877.1:c.3389A>T	XP_011536179.1:p.Glu1130Val
XM_011537878.1:c.3389A>T	XP_011536180.1:p.Glu1130Val
XM_011537879.1:c.2186A>T	XP_011536181.1:p.Glu729Val
XM_011537880.1:c.3389A>T	XP_011536182.1:p.Glu1130Val
XM_011537881.1:c.3389A>T	XP_011536183.1:p.Glu1130Val
XM_011537882.1:c.3389A>T	XP_011536184.1:p.Glu1130Val
XM_005268629.4:c.3389A>T	XP_005268686.1:p.Glu1130Val
XM_011537877.3:c.3389A>T	XP_011536179.1:p.Glu1130Val
XM_011537881.3:c.3389A>T	XP_011536183.1:p.Glu1130Val
XM_011537882.3:c.3389A>T	XP_011536184.1:p.Glu1130Val
XM_017018786.2:c.3389A>T	XP_016874275.1:p.Glu1130Val
XM_017018787.1:c.305A>T	XP_016874276.1:p.Glu102Val
XM_017018789.2:c.3389A>T	XP_016874278.1:p.Glu1130Val
XM_024448833.1:c.2186A>T	XP_024304601.1:p.Glu729Val
XR_001748574.2:n.3631A>T
NM_198578.4:c.3389A>T MANE Select	NP_940980.4:p.Glu1130Val