Canonical Allele Identifier: CA384404185

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1751634
• ClinVar RCV Id: RCV002360182
• MyVariant Identifiers: chr12:g.40734248G>A (hg19) ; chr12:g.40340446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340446G>A , CM000674.2:g.40340446G>A	GRCh38
NC_000012.11:g.40734248G>A , CM000674.1:g.40734248G>A	GRCh37
NC_000012.10:g.39020515G>A	NCBI36
NG_011709.1:g.120436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6101G>A MANE Select	ENSP00000298910.7:p.Gly2034Asp
ENST00000679360.1:c.*5010G>A	ENSP00000505368.1:n.*5010G>A
ENST00000679532.1:c.1875G>A
ENST00000680018.1:c.1546G>A	ENSP00000505347.1:n.1546G>A
ENST00000680422.1:c.1746G>A
ENST00000680425.1:c.1268G>A	ENSP00000506459.1:n.1268G>A
ENST00000680453.1:c.1558G>A
ENST00000680790.1:c.5846G>A	ENSP00000505335.1:p.Gly1949Asp
ENST00000681136.1:n.2085G>A
ENST00000681696.1:c.1784G>A	ENSP00000505871.1:p.Gly595Asp
ENST00000298910.11:c.6101G>A	ENSP00000298910.7:p.Gly2034Asp
ENST00000430804.5:c.3397G>A
ENST00000479187.5:n.2782G>A
NM_198578.3:c.6101G>A	NP_940980.3:p.Gly2034Asp
XM_005268629.2:c.6101G>A	XP_005268686.1:p.Gly2034Asp
XM_011537877.1:c.6101G>A	XP_011536179.1:p.Gly2034Asp
XM_011537878.1:c.6101G>A	XP_011536180.1:p.Gly2034Asp
XM_011537879.1:c.4898G>A	XP_011536181.1:p.Gly1633Asp
XM_005268629.4:c.6101G>A	XP_005268686.1:p.Gly2034Asp
XM_011537877.3:c.6101G>A	XP_011536179.1:p.Gly2034Asp
XM_017018787.1:c.3017G>A	XP_016874276.1:p.Gly1006Asp
XM_017018788.2:c.2363G>A	XP_016874277.1:p.Gly788Asp
XM_024448833.1:c.4898G>A	XP_024304601.1:p.Gly1633Asp
NM_198578.4:c.6101G>A MANE Select	NP_940980.4:p.Gly2034Asp