Canonical Allele Identifier: CA384413557

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40363529-C-G
• MyVariant Identifiers: chr12:g.40757331C>G (hg19) ; chr12:g.40363529C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363529C>G , CM000674.2:g.40363529C>G	GRCh38
NC_000012.11:g.40757331C>G , CM000674.1:g.40757331C>G	GRCh37
NC_000012.10:g.39043598C>G	NCBI36
NG_011709.1:g.143519C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7156C>G MANE Select	ENSP00000298910.7:p.Leu2386Val
ENST00000636518.1:c.953C>G
ENST00000679360.1:c.*6065C>G	ENSP00000505368.1:n.*6065C>G
ENST00000679532.1:c.2930C>G
ENST00000679683.1:c.946C>G
ENST00000680018.1:c.2601C>G	ENSP00000505347.1:n.2601C>G
ENST00000680422.1:c.4243C>G
ENST00000680425.1:c.2323C>G	ENSP00000506459.1:n.2323C>G
ENST00000680453.1:c.2613C>G
ENST00000680790.1:c.6901C>G	ENSP00000505335.1:p.Leu2301Val
ENST00000681136.1:n.3140C>G
ENST00000681696.1:c.2839C>G	ENSP00000505871.1:p.Leu947Val
ENST00000681773.1:n.363C>G
ENST00000298910.11:c.7156C>G	ENSP00000298910.7:p.Leu2386Val
ENST00000430804.5:c.4452C>G
ENST00000479187.5:n.3837C>G
NM_198578.3:c.7156C>G	NP_940980.3:p.Leu2386Val
XM_005268629.2:c.7156C>G	XP_005268686.1:p.Leu2386Val
XM_011537877.1:c.7156C>G	XP_011536179.1:p.Leu2386Val
XM_011537879.1:c.5953C>G	XP_011536181.1:p.Leu1985Val
XR_944868.1:n.485-8702G>C
XM_005268629.4:c.7156C>G	XP_005268686.1:p.Leu2386Val
XM_011537877.3:c.7156C>G	XP_011536179.1:p.Leu2386Val
XM_017018787.1:c.4072C>G	XP_016874276.1:p.Leu1358Val
XM_017018788.2:c.3418C>G	XP_016874277.1:p.Leu1140Val
XM_024448833.1:c.5953C>G	XP_024304601.1:p.Leu1985Val
XR_944868.2:n.485-8702G>C
NM_198578.4:c.7156C>G MANE Select	NP_940980.4:p.Leu2386Val