Canonical Allele Identifier: CA384413515

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1757358
• ClinVar RCV Id: RCV002367504
• MyVariant Identifiers: chr12:g.40757319A>G (hg19) ; chr12:g.40363517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363517A>G , CM000674.2:g.40363517A>G	GRCh38
NC_000012.11:g.40757319A>G , CM000674.1:g.40757319A>G	GRCh37
NC_000012.10:g.39043586A>G	NCBI36
NG_011709.1:g.143507A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7144A>G MANE Select	ENSP00000298910.7:p.Lys2382Glu
ENST00000636518.1:c.941A>G
ENST00000679360.1:c.*6053A>G	ENSP00000505368.1:n.*6053A>G
ENST00000679532.1:c.2918A>G
ENST00000679683.1:c.934A>G
ENST00000680018.1:c.2589A>G	ENSP00000505347.1:n.2589A>G
ENST00000680422.1:c.4231A>G
ENST00000680425.1:c.2311A>G	ENSP00000506459.1:n.2311A>G
ENST00000680453.1:c.2601A>G
ENST00000680790.1:c.6889A>G	ENSP00000505335.1:p.Lys2297Glu
ENST00000681136.1:n.3128A>G
ENST00000681696.1:c.2827A>G	ENSP00000505871.1:p.Lys943Glu
ENST00000681773.1:n.351A>G
ENST00000298910.11:c.7144A>G	ENSP00000298910.7:p.Lys2382Glu
ENST00000430804.5:c.4440A>G
ENST00000479187.5:n.3825A>G
NM_198578.3:c.7144A>G	NP_940980.3:p.Lys2382Glu
XM_005268629.2:c.7144A>G	XP_005268686.1:p.Lys2382Glu
XM_011537877.1:c.7144A>G	XP_011536179.1:p.Lys2382Glu
XM_011537879.1:c.5941A>G	XP_011536181.1:p.Lys1981Glu
XR_944868.1:n.485-8690T>C
XM_005268629.4:c.7144A>G	XP_005268686.1:p.Lys2382Glu
XM_011537877.3:c.7144A>G	XP_011536179.1:p.Lys2382Glu
XM_017018787.1:c.4060A>G	XP_016874276.1:p.Lys1354Glu
XM_017018788.2:c.3406A>G	XP_016874277.1:p.Lys1136Glu
XM_024448833.1:c.5941A>G	XP_024304601.1:p.Lys1981Glu
XR_944868.2:n.485-8690T>C
NM_198578.4:c.7144A>G MANE Select	NP_940980.4:p.Lys2382Glu