Canonical Allele Identifier: CA6514315

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 546702
• ClinVar RCV Id: RCV000658642 ; RCV000699356
• dbSNP Id: rs33949390
• ExAC: 12:40713845 G / A
• gnomAD v2: 12-40713845-G-A
• gnomAD v3: 12-40320043-G-A
• gnomAD v4: 12-40320043-G-A
• COSMIC: COSM1361432 ; COSM1361433
• MyVariant Identifiers: chr12:g.40713845G>A (hg19) ; chr12:g.40320043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320043G>A , CM000674.2:g.40320043G>A	GRCh38
NC_000012.11:g.40713845G>A , CM000674.1:g.40713845G>A	GRCh37
NC_000012.10:g.39000112G>A	NCBI36
NG_011709.1:g.100033G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.4883G>A MANE Select	ENSP00000298910.7:p.Arg1628His
ENST00000679360.1:c.*3792G>A	ENSP00000505368.1:n.*3792G>A
ENST00000679532.1:c.657G>A
ENST00000680018.1:c.328G>A	ENSP00000505347.1:n.328G>A
ENST00000680422.1:c.528G>A
ENST00000680425.1:c.183-991G>A	ENSP00000506459.1:n.183-991G>A
ENST00000680453.1:c.473-991G>A
ENST00000680790.1:c.4628G>A	ENSP00000505335.1:p.Arg1543His
ENST00000681136.1:n.867G>A
ENST00000681696.1:c.566G>A	ENSP00000505871.1:p.Arg189His
ENST00000298910.11:c.4883G>A	ENSP00000298910.7:p.Arg1628His
ENST00000430804.5:c.2179G>A
ENST00000479187.5:n.1564G>A
ENST00000481256.1:n.542G>A
NM_198578.3:c.4883G>A	NP_940980.3:p.Arg1628His
XM_005268629.2:c.4883G>A	XP_005268686.1:p.Arg1628His
XM_011537877.1:c.4883G>A	XP_011536179.1:p.Arg1628His
XM_011537878.1:c.4883G>A	XP_011536180.1:p.Arg1628His
XM_011537879.1:c.3680G>A	XP_011536181.1:p.Arg1227His
XM_011537881.1:c.4828-991G>A	XP_011536183.1:n.4828-991G>A
XM_005268629.4:c.4883G>A	XP_005268686.1:p.Arg1628His
XM_011537877.3:c.4883G>A	XP_011536179.1:p.Arg1628His
XM_011537881.3:c.4828-991G>A	XP_011536183.1:n.4828-991G>A
XM_017018787.1:c.1799G>A	XP_016874276.1:p.Arg600His
XM_017018788.2:c.1145G>A	XP_016874277.1:p.Arg382His
XM_024448833.1:c.3680G>A	XP_024304601.1:p.Arg1227His
XR_001748574.2:n.5251G>A
NM_198578.4:c.4883G>A MANE Select	NP_940980.4:p.Arg1628His