Canonical Allele Identifier: CA6514334

Gene: LRRK2

Linked Data

• dbSNP Id: rs778419270
• ExAC: 12:40713955 G / C
• gnomAD v2: 12-40713955-G-C
• gnomAD v4: 12-40320153-G-C
• MyVariant Identifiers: chr12:g.40713955G>C (hg19) ; chr12:g.40320153G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320153G>C , CM000674.2:g.40320153G>C	GRCh38
NC_000012.11:g.40713955G>C , CM000674.1:g.40713955G>C	GRCh37
NC_000012.10:g.39000222G>C	NCBI36
NG_011709.1:g.100143G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4993G>C MANE Select	ENSP00000298910.7:p.Glu1665Gln
ENST00000679360.1:c.*3902G>C	ENSP00000505368.1:n.*3902G>C
ENST00000679532.1:c.767G>C
ENST00000680018.1:c.438G>C	ENSP00000505347.1:n.438G>C
ENST00000680422.1:c.638G>C
ENST00000680425.1:c.183-881G>C	ENSP00000506459.1:n.183-881G>C
ENST00000680453.1:c.473-881G>C
ENST00000680790.1:c.4738G>C	ENSP00000505335.1:p.Glu1580Gln
ENST00000681136.1:n.977G>C
ENST00000681696.1:c.676G>C	ENSP00000505871.1:p.Glu226Gln
ENST00000298910.11:c.4993G>C	ENSP00000298910.7:p.Glu1665Gln
ENST00000430804.5:c.2289G>C
ENST00000479187.5:n.1674G>C
NM_198578.3:c.4993G>C	NP_940980.3:p.Glu1665Gln
XM_005268629.2:c.4993G>C	XP_005268686.1:p.Glu1665Gln
XM_011537877.1:c.4993G>C	XP_011536179.1:p.Glu1665Gln
XM_011537878.1:c.4993G>C	XP_011536180.1:p.Glu1665Gln
XM_011537879.1:c.3790G>C	XP_011536181.1:p.Glu1264Gln
XM_011537881.1:c.4828-881G>C	XP_011536183.1:n.4828-881G>C
XM_005268629.4:c.4993G>C	XP_005268686.1:p.Glu1665Gln
XM_011537877.3:c.4993G>C	XP_011536179.1:p.Glu1665Gln
XM_011537881.3:c.4828-881G>C	XP_011536183.1:n.4828-881G>C
XM_017018787.1:c.1909G>C	XP_016874276.1:p.Glu637Gln
XM_017018788.2:c.1255G>C	XP_016874277.1:p.Glu419Gln
XM_024448833.1:c.3790G>C	XP_024304601.1:p.Glu1264Gln
XR_001748574.2:n.5361G>C
NM_198578.4:c.4993G>C MANE Select	NP_940980.4:p.Glu1665Gln