Canonical Allele Identifier: CA384413294

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2587300
• ClinVar RCV Id: RCV003350659
• MyVariant Identifiers: chr12:g.40757260C>G (hg19) ; chr12:g.40363458C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363458C>G , CM000674.2:g.40363458C>G	GRCh38
NC_000012.11:g.40757260C>G , CM000674.1:g.40757260C>G	GRCh37
NC_000012.10:g.39043527C>G	NCBI36
NG_011709.1:g.143448C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7085C>G MANE Select	ENSP00000298910.7:p.Ala2362Gly
ENST00000636518.1:c.882C>G
ENST00000679360.1:c.*5994C>G	ENSP00000505368.1:n.*5994C>G
ENST00000679532.1:c.2859C>G
ENST00000679683.1:c.875C>G
ENST00000680018.1:c.2530C>G	ENSP00000505347.1:n.2530C>G
ENST00000680422.1:c.4172C>G
ENST00000680425.1:c.2252C>G	ENSP00000506459.1:n.2252C>G
ENST00000680453.1:c.2542C>G
ENST00000680790.1:c.6830C>G	ENSP00000505335.1:p.Ala2277Gly
ENST00000681136.1:n.3069C>G
ENST00000681696.1:c.2768C>G	ENSP00000505871.1:p.Ala923Gly
ENST00000681773.1:n.292C>G
ENST00000298910.11:c.7085C>G	ENSP00000298910.7:p.Ala2362Gly
ENST00000430804.5:c.4381C>G
ENST00000479187.5:n.3766C>G
NM_198578.3:c.7085C>G	NP_940980.3:p.Ala2362Gly
XM_005268629.2:c.7085C>G	XP_005268686.1:p.Ala2362Gly
XM_011537877.1:c.7085C>G	XP_011536179.1:p.Ala2362Gly
XM_011537879.1:c.5882C>G	XP_011536181.1:p.Ala1961Gly
XR_944868.1:n.485-8631G>C
XM_005268629.4:c.7085C>G	XP_005268686.1:p.Ala2362Gly
XM_011537877.3:c.7085C>G	XP_011536179.1:p.Ala2362Gly
XM_017018787.1:c.4001C>G	XP_016874276.1:p.Ala1334Gly
XM_017018788.2:c.3347C>G	XP_016874277.1:p.Ala1116Gly
XM_024448833.1:c.5882C>G	XP_024304601.1:p.Ala1961Gly
XR_944868.2:n.485-8631G>C
NM_198578.4:c.7085C>G MANE Select	NP_940980.4:p.Ala2362Gly