Canonical Allele Identifier: CA384413096

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40363416-C-A
• MyVariant Identifiers: chr12:g.40757218C>A (hg19) ; chr12:g.40363416C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363416C>A , CM000674.2:g.40363416C>A	GRCh38
NC_000012.11:g.40757218C>A , CM000674.1:g.40757218C>A	GRCh37
NC_000012.10:g.39043485C>A	NCBI36
NG_011709.1:g.143406C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7043C>A MANE Select	ENSP00000298910.7:p.Ala2348Asp
ENST00000636518.1:c.840C>A
ENST00000679360.1:c.*5952C>A	ENSP00000505368.1:n.*5952C>A
ENST00000679532.1:c.2817C>A
ENST00000679683.1:c.833C>A
ENST00000680018.1:c.2488C>A	ENSP00000505347.1:n.2488C>A
ENST00000680422.1:c.4130C>A
ENST00000680425.1:c.2210C>A	ENSP00000506459.1:n.2210C>A
ENST00000680453.1:c.2500C>A
ENST00000680790.1:c.6788C>A	ENSP00000505335.1:p.Ala2263Asp
ENST00000681136.1:n.3027C>A
ENST00000681696.1:c.2726C>A	ENSP00000505871.1:p.Ala909Asp
ENST00000681773.1:n.250C>A
ENST00000298910.11:c.7043C>A	ENSP00000298910.7:p.Ala2348Asp
ENST00000430804.5:c.4339C>A
ENST00000479187.5:n.3724C>A
NM_198578.3:c.7043C>A	NP_940980.3:p.Ala2348Asp
XM_005268629.2:c.7043C>A	XP_005268686.1:p.Ala2348Asp
XM_011537877.1:c.7043C>A	XP_011536179.1:p.Ala2348Asp
XM_011537879.1:c.5840C>A	XP_011536181.1:p.Ala1947Asp
XR_944868.1:n.485-8589G>T
XM_005268629.4:c.7043C>A	XP_005268686.1:p.Ala2348Asp
XM_011537877.3:c.7043C>A	XP_011536179.1:p.Ala2348Asp
XM_017018787.1:c.3959C>A	XP_016874276.1:p.Ala1320Asp
XM_017018788.2:c.3305C>A	XP_016874277.1:p.Ala1102Asp
XM_024448833.1:c.5840C>A	XP_024304601.1:p.Ala1947Asp
XR_944868.2:n.485-8589G>T
NM_198578.4:c.7043C>A MANE Select	NP_940980.4:p.Ala2348Asp