Canonical Allele Identifier: CA384403726

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 881285
• ClinVar RCV Id: RCV001110198
• dbSNP Id: rs1946002614
• MyVariant Identifiers: chr12:g.40734151C>G (hg19) ; chr12:g.40340349C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340349C>G , CM000674.2:g.40340349C>G	GRCh38
NC_000012.11:g.40734151C>G , CM000674.1:g.40734151C>G	GRCh37
NC_000012.10:g.39020418C>G	NCBI36
NG_011709.1:g.120339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6004C>G MANE Select	ENSP00000298910.7:p.Leu2002Val
ENST00000679360.1:c.*4913C>G	ENSP00000505368.1:n.*4913C>G
ENST00000679532.1:c.1778C>G
ENST00000680018.1:c.1449C>G	ENSP00000505347.1:n.1449C>G
ENST00000680422.1:c.1649C>G
ENST00000680425.1:c.1171C>G	ENSP00000506459.1:n.1171C>G
ENST00000680453.1:c.1461C>G
ENST00000680790.1:c.5749C>G	ENSP00000505335.1:p.Leu1917Val
ENST00000681136.1:n.1988C>G
ENST00000681696.1:c.1687C>G	ENSP00000505871.1:p.Leu563Val
ENST00000298910.11:c.6004C>G	ENSP00000298910.7:p.Leu2002Val
ENST00000430804.5:c.3300C>G
ENST00000479187.5:n.2685C>G
NM_198578.3:c.6004C>G	NP_940980.3:p.Leu2002Val
XM_005268629.2:c.6004C>G	XP_005268686.1:p.Leu2002Val
XM_011537877.1:c.6004C>G	XP_011536179.1:p.Leu2002Val
XM_011537878.1:c.6004C>G	XP_011536180.1:p.Leu2002Val
XM_011537879.1:c.4801C>G	XP_011536181.1:p.Leu1601Val
XM_005268629.4:c.6004C>G	XP_005268686.1:p.Leu2002Val
XM_011537877.3:c.6004C>G	XP_011536179.1:p.Leu2002Val
XM_017018787.1:c.2920C>G	XP_016874276.1:p.Leu974Val
XM_017018788.2:c.2266C>G	XP_016874277.1:p.Leu756Val
XM_024448833.1:c.4801C>G	XP_024304601.1:p.Leu1601Val
NM_198578.4:c.6004C>G MANE Select	NP_940980.4:p.Leu2002Val