Canonical Allele Identifier: CA384413400

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757289G>A (hg19) ; chr12:g.40363487G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363487G>A , CM000674.2:g.40363487G>A	GRCh38
NC_000012.11:g.40757289G>A , CM000674.1:g.40757289G>A	GRCh37
NC_000012.10:g.39043556G>A	NCBI36
NG_011709.1:g.143477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7114G>A MANE Select	ENSP00000298910.7:p.Val2372Ile
ENST00000636518.1:c.911G>A
ENST00000679360.1:c.*6023G>A	ENSP00000505368.1:n.*6023G>A
ENST00000679532.1:c.2888G>A
ENST00000679683.1:c.904G>A
ENST00000680018.1:c.2559G>A	ENSP00000505347.1:n.2559G>A
ENST00000680422.1:c.4201G>A
ENST00000680425.1:c.2281G>A	ENSP00000506459.1:n.2281G>A
ENST00000680453.1:c.2571G>A
ENST00000680790.1:c.6859G>A	ENSP00000505335.1:p.Val2287Ile
ENST00000681136.1:n.3098G>A
ENST00000681696.1:c.2797G>A	ENSP00000505871.1:p.Val933Ile
ENST00000681773.1:n.321G>A
ENST00000298910.11:c.7114G>A	ENSP00000298910.7:p.Val2372Ile
ENST00000430804.5:c.4410G>A
ENST00000479187.5:n.3795G>A
NM_198578.3:c.7114G>A	NP_940980.3:p.Val2372Ile
XM_005268629.2:c.7114G>A	XP_005268686.1:p.Val2372Ile
XM_011537877.1:c.7114G>A	XP_011536179.1:p.Val2372Ile
XM_011537879.1:c.5911G>A	XP_011536181.1:p.Val1971Ile
XR_944868.1:n.485-8660C>T
XM_005268629.4:c.7114G>A	XP_005268686.1:p.Val2372Ile
XM_011537877.3:c.7114G>A	XP_011536179.1:p.Val2372Ile
XM_017018787.1:c.4030G>A	XP_016874276.1:p.Val1344Ile
XM_017018788.2:c.3376G>A	XP_016874277.1:p.Val1126Ile
XM_024448833.1:c.5911G>A	XP_024304601.1:p.Val1971Ile
XR_944868.2:n.485-8660C>T
NM_198578.4:c.7114G>A MANE Select	NP_940980.4:p.Val2372Ile