Canonical Allele Identifier: CA384407064

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1753855
• ClinVar RCV Id: RCV002356259 ; RCV003638851
• dbSNP Id: rs1946357607
• gnomAD v3: 12-40351656-A-G
• gnomAD v4: 12-40351656-A-G
• MyVariant Identifiers: chr12:g.40745458A>G (hg19) ; chr12:g.40351656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351656A>G , CM000674.2:g.40351656A>G	GRCh38
NC_000012.11:g.40745458A>G , CM000674.1:g.40745458A>G	GRCh37
NC_000012.10:g.39031725A>G	NCBI36
NG_011709.1:g.131646A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6499A>G MANE Select	ENSP00000298910.7:p.Ile2167Val
ENST00000636518.1:c.296A>G
ENST00000679360.1:c.*5408A>G	ENSP00000505368.1:n.*5408A>G
ENST00000679532.1:c.2273A>G
ENST00000679683.1:c.289A>G
ENST00000680018.1:c.1944A>G	ENSP00000505347.1:n.1944A>G
ENST00000680422.1:c.2144A>G
ENST00000680425.1:c.1666A>G	ENSP00000506459.1:n.1666A>G
ENST00000680453.1:c.1956A>G
ENST00000680790.1:c.6244A>G	ENSP00000505335.1:p.Ile2082Val
ENST00000681136.1:n.2483A>G
ENST00000681696.1:c.2182A>G	ENSP00000505871.1:p.Ile728Val
ENST00000298910.11:c.6499A>G	ENSP00000298910.7:p.Ile2167Val
ENST00000430804.5:c.3795A>G
ENST00000479187.5:n.3180A>G
NM_198578.3:c.6499A>G	NP_940980.3:p.Ile2167Val
XM_005268629.2:c.6499A>G	XP_005268686.1:p.Ile2167Val
XM_011537877.1:c.6499A>G	XP_011536179.1:p.Ile2167Val
XM_011537878.1:c.6499A>G	XP_011536180.1:p.Ile2167Val
XM_011537879.1:c.5296A>G	XP_011536181.1:p.Ile1766Val
XM_005268629.4:c.6499A>G	XP_005268686.1:p.Ile2167Val
XM_011537877.3:c.6499A>G	XP_011536179.1:p.Ile2167Val
XM_017018787.1:c.3415A>G	XP_016874276.1:p.Ile1139Val
XM_017018788.2:c.2761A>G	XP_016874277.1:p.Ile921Val
XM_024448833.1:c.5296A>G	XP_024304601.1:p.Ile1766Val
NM_198578.4:c.6499A>G MANE Select	NP_940980.4:p.Ile2167Val