Canonical Allele Identifier: CA384413041

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757207T>G (hg19) ; chr12:g.40363405T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363405T>G , CM000674.2:g.40363405T>G	GRCh38
NC_000012.11:g.40757207T>G , CM000674.1:g.40757207T>G	GRCh37
NC_000012.10:g.39043474T>G	NCBI36
NG_011709.1:g.143395T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7032T>G MANE Select	ENSP00000298910.7:p.Phe2344Leu
ENST00000636518.1:c.829T>G
ENST00000679360.1:c.*5941T>G	ENSP00000505368.1:n.*5941T>G
ENST00000679532.1:c.2806T>G
ENST00000679683.1:c.822T>G
ENST00000680018.1:c.2477T>G	ENSP00000505347.1:n.2477T>G
ENST00000680422.1:c.4119T>G
ENST00000680425.1:c.2199T>G	ENSP00000506459.1:n.2199T>G
ENST00000680453.1:c.2489T>G
ENST00000680790.1:c.6777T>G	ENSP00000505335.1:p.Phe2259Leu
ENST00000681136.1:n.3016T>G
ENST00000681696.1:c.2715T>G	ENSP00000505871.1:p.Phe905Leu
ENST00000681773.1:n.239T>G
ENST00000298910.11:c.7032T>G	ENSP00000298910.7:p.Phe2344Leu
ENST00000430804.5:c.4328T>G
ENST00000479187.5:n.3713T>G
NM_198578.3:c.7032T>G	NP_940980.3:p.Phe2344Leu
XM_005268629.2:c.7032T>G	XP_005268686.1:p.Phe2344Leu
XM_011537877.1:c.7032T>G	XP_011536179.1:p.Phe2344Leu
XM_011537879.1:c.5829T>G	XP_011536181.1:p.Phe1943Leu
XR_944868.1:n.485-8578A>C
XM_005268629.4:c.7032T>G	XP_005268686.1:p.Phe2344Leu
XM_011537877.3:c.7032T>G	XP_011536179.1:p.Phe2344Leu
XM_017018787.1:c.3948T>G	XP_016874276.1:p.Phe1316Leu
XM_017018788.2:c.3294T>G	XP_016874277.1:p.Phe1098Leu
XM_024448833.1:c.5829T>G	XP_024304601.1:p.Phe1943Leu
XR_944868.2:n.485-8578A>C
NM_198578.4:c.7032T>G MANE Select	NP_940980.4:p.Phe2344Leu