Canonical Allele Identifier: CA384419807

Gene: LRRK2

Linked Data

• dbSNP Id: rs1270021239
• gnomAD v3: 12-40321035-T-G
• gnomAD v4: 12-40321035-T-G
• MyVariant Identifiers: chr12:g.40714837T>G (hg19) ; chr12:g.40321035T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40321035T>G , CM000674.2:g.40321035T>G	GRCh38
NC_000012.11:g.40714837T>G , CM000674.1:g.40714837T>G	GRCh37
NC_000012.10:g.39001104T>G	NCBI36
NG_011709.1:g.101025T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5017T>G MANE Select	ENSP00000298910.7:p.Leu1673Val
ENST00000679360.1:c.*3926T>G	ENSP00000505368.1:n.*3926T>G
ENST00000679532.1:c.791T>G
ENST00000680018.1:c.462T>G	ENSP00000505347.1:n.462T>G
ENST00000680422.1:c.662T>G
ENST00000680425.1:c.184T>G	ENSP00000506459.1:n.184T>G
ENST00000680453.1:c.474T>G
ENST00000680790.1:c.4762T>G	ENSP00000505335.1:p.Leu1588Val
ENST00000681136.1:n.1001T>G
ENST00000681696.1:c.700T>G	ENSP00000505871.1:p.Leu234Val
ENST00000298910.11:c.5017T>G	ENSP00000298910.7:p.Leu1673Val
ENST00000430804.5:c.2313T>G
ENST00000479187.5:n.1698T>G
NM_198578.3:c.5017T>G	NP_940980.3:p.Leu1673Val
XM_005268629.2:c.5017T>G	XP_005268686.1:p.Leu1673Val
XM_011537877.1:c.5017T>G	XP_011536179.1:p.Leu1673Val
XM_011537878.1:c.5017T>G	XP_011536180.1:p.Leu1673Val
XM_011537879.1:c.3814T>G	XP_011536181.1:p.Leu1272Val
XM_011537881.1:c.4829T>G	XP_011536183.1:p.Phe1610Cys
XM_005268629.4:c.5017T>G	XP_005268686.1:p.Leu1673Val
XM_011537877.3:c.5017T>G	XP_011536179.1:p.Leu1673Val
XM_011537881.3:c.4829T>G	XP_011536183.1:p.Phe1610Cys
XM_017018787.1:c.1933T>G	XP_016874276.1:p.Leu645Val
XM_017018788.2:c.1279T>G	XP_016874277.1:p.Leu427Val
XM_024448833.1:c.3814T>G	XP_024304601.1:p.Leu1272Val
XR_001748574.2:n.5385T>G
NM_198578.4:c.5017T>G MANE Select	NP_940980.4:p.Leu1673Val