Canonical Allele Identifier: CA384403869

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1751185
• ClinVar RCV Id: RCV002358172
• gnomAD v4: 12-40340376-A-G
• MyVariant Identifiers: chr12:g.40734178A>G (hg19) ; chr12:g.40340376A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340376A>G , CM000674.2:g.40340376A>G	GRCh38
NC_000012.11:g.40734178A>G , CM000674.1:g.40734178A>G	GRCh37
NC_000012.10:g.39020445A>G	NCBI36
NG_011709.1:g.120366A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6031A>G MANE Select	ENSP00000298910.7:p.Ile2011Val
ENST00000679360.1:c.*4940A>G	ENSP00000505368.1:n.*4940A>G
ENST00000679532.1:c.1805A>G
ENST00000680018.1:c.1476A>G	ENSP00000505347.1:n.1476A>G
ENST00000680422.1:c.1676A>G
ENST00000680425.1:c.1198A>G	ENSP00000506459.1:n.1198A>G
ENST00000680453.1:c.1488A>G
ENST00000680790.1:c.5776A>G	ENSP00000505335.1:p.Ile1926Val
ENST00000681136.1:n.2015A>G
ENST00000681696.1:c.1714A>G	ENSP00000505871.1:p.Ile572Val
ENST00000298910.11:c.6031A>G	ENSP00000298910.7:p.Ile2011Val
ENST00000430804.5:c.3327A>G
ENST00000479187.5:n.2712A>G
NM_198578.3:c.6031A>G	NP_940980.3:p.Ile2011Val
XM_005268629.2:c.6031A>G	XP_005268686.1:p.Ile2011Val
XM_011537877.1:c.6031A>G	XP_011536179.1:p.Ile2011Val
XM_011537878.1:c.6031A>G	XP_011536180.1:p.Ile2011Val
XM_011537879.1:c.4828A>G	XP_011536181.1:p.Ile1610Val
XM_005268629.4:c.6031A>G	XP_005268686.1:p.Ile2011Val
XM_011537877.3:c.6031A>G	XP_011536179.1:p.Ile2011Val
XM_017018787.1:c.2947A>G	XP_016874276.1:p.Ile983Val
XM_017018788.2:c.2293A>G	XP_016874277.1:p.Ile765Val
XM_024448833.1:c.4828A>G	XP_024304601.1:p.Ile1610Val
NM_198578.4:c.6031A>G MANE Select	NP_940980.4:p.Ile2011Val