Canonical Allele Identifier: CA384413559

Gene: LRRK2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363530T>A , CM000674.2:g.40363530T>A	GRCh38
NC_000012.11:g.40757332T>A , CM000674.1:g.40757332T>A	GRCh37
NC_000012.10:g.39043599T>A	NCBI36
NG_011709.1:g.143520T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7157T>A MANE Select	ENSP00000298910.7:p.Leu2386Gln
ENST00000636518.1:c.954T>A
ENST00000679360.1:c.*6066T>A	ENSP00000505368.1:n.*6066T>A
ENST00000679532.1:c.2931T>A
ENST00000679683.1:c.947T>A
ENST00000680018.1:c.2602T>A	ENSP00000505347.1:n.2602T>A
ENST00000680422.1:c.4244T>A
ENST00000680425.1:c.2324T>A	ENSP00000506459.1:n.2324T>A
ENST00000680453.1:c.2614T>A
ENST00000680790.1:c.6902T>A	ENSP00000505335.1:p.Leu2301Gln
ENST00000681136.1:n.3141T>A
ENST00000681696.1:c.2840T>A	ENSP00000505871.1:p.Leu947Gln
ENST00000681773.1:n.364T>A
ENST00000298910.11:c.7157T>A	ENSP00000298910.7:p.Leu2386Gln
ENST00000430804.5:c.4453T>A
ENST00000479187.5:n.3838T>A
NM_198578.3:c.7157T>A	NP_940980.3:p.Leu2386Gln
XM_005268629.2:c.7157T>A	XP_005268686.1:p.Leu2386Gln
XM_011537877.1:c.7157T>A	XP_011536179.1:p.Leu2386Gln
XM_011537879.1:c.5954T>A	XP_011536181.1:p.Leu1985Gln
XR_944868.1:n.485-8703A>T
XM_005268629.4:c.7157T>A	XP_005268686.1:p.Leu2386Gln
XM_011537877.3:c.7157T>A	XP_011536179.1:p.Leu2386Gln
XM_017018787.1:c.4073T>A	XP_016874276.1:p.Leu1358Gln
XM_017018788.2:c.3419T>A	XP_016874277.1:p.Leu1140Gln
XM_024448833.1:c.5954T>A	XP_024304601.1:p.Leu1985Gln
XR_944868.2:n.485-8703A>T
NM_198578.4:c.7157T>A MANE Select	NP_940980.4:p.Leu2386Gln