Canonical Allele Identifier: CA384413492

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 3229773
• ClinVar RCV Id: RCV004517987
• gnomAD v4: 12-40363511-A-G
• MyVariant Identifiers: chr12:g.40757313A>G (hg19) ; chr12:g.40363511A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363511A>G , CM000674.2:g.40363511A>G	GRCh38
NC_000012.11:g.40757313A>G , CM000674.1:g.40757313A>G	GRCh37
NC_000012.10:g.39043580A>G	NCBI36
NG_011709.1:g.143501A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7138A>G MANE Select	ENSP00000298910.7:p.Thr2380Ala
ENST00000636518.1:c.935A>G
ENST00000679360.1:c.*6047A>G	ENSP00000505368.1:n.*6047A>G
ENST00000679532.1:c.2912A>G
ENST00000679683.1:c.928A>G
ENST00000680018.1:c.2583A>G	ENSP00000505347.1:n.2583A>G
ENST00000680422.1:c.4225A>G
ENST00000680425.1:c.2305A>G	ENSP00000506459.1:n.2305A>G
ENST00000680453.1:c.2595A>G
ENST00000680790.1:c.6883A>G	ENSP00000505335.1:p.Thr2295Ala
ENST00000681136.1:n.3122A>G
ENST00000681696.1:c.2821A>G	ENSP00000505871.1:p.Thr941Ala
ENST00000681773.1:n.345A>G
ENST00000298910.11:c.7138A>G	ENSP00000298910.7:p.Thr2380Ala
ENST00000430804.5:c.4434A>G
ENST00000479187.5:n.3819A>G
NM_198578.3:c.7138A>G	NP_940980.3:p.Thr2380Ala
XM_005268629.2:c.7138A>G	XP_005268686.1:p.Thr2380Ala
XM_011537877.1:c.7138A>G	XP_011536179.1:p.Thr2380Ala
XM_011537879.1:c.5935A>G	XP_011536181.1:p.Thr1979Ala
XR_944868.1:n.485-8684T>C
XM_005268629.4:c.7138A>G	XP_005268686.1:p.Thr2380Ala
XM_011537877.3:c.7138A>G	XP_011536179.1:p.Thr2380Ala
XM_017018787.1:c.4054A>G	XP_016874276.1:p.Thr1352Ala
XM_017018788.2:c.3400A>G	XP_016874277.1:p.Thr1134Ala
XM_024448833.1:c.5935A>G	XP_024304601.1:p.Thr1979Ala
XR_944868.2:n.485-8684T>C
NM_198578.4:c.7138A>G MANE Select	NP_940980.4:p.Thr2380Ala