Canonical Allele Identifier: CA384403716

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734148C>G (hg19) ; chr12:g.40340346C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340346C>G , CM000674.2:g.40340346C>G	GRCh38
NC_000012.11:g.40734148C>G , CM000674.1:g.40734148C>G	GRCh37
NC_000012.10:g.39020415C>G	NCBI36
NG_011709.1:g.120336C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6001C>G MANE Select	ENSP00000298910.7:p.Leu2001Val
ENST00000679360.1:c.*4910C>G	ENSP00000505368.1:n.*4910C>G
ENST00000679532.1:c.1775C>G
ENST00000680018.1:c.1446C>G	ENSP00000505347.1:n.1446C>G
ENST00000680422.1:c.1646C>G
ENST00000680425.1:c.1168C>G	ENSP00000506459.1:n.1168C>G
ENST00000680453.1:c.1458C>G
ENST00000680790.1:c.5746C>G	ENSP00000505335.1:p.Leu1916Val
ENST00000681136.1:n.1985C>G
ENST00000681696.1:c.1684C>G	ENSP00000505871.1:p.Leu562Val
ENST00000298910.11:c.6001C>G	ENSP00000298910.7:p.Leu2001Val
ENST00000430804.5:c.3297C>G
ENST00000479187.5:n.2682C>G
NM_198578.3:c.6001C>G	NP_940980.3:p.Leu2001Val
XM_005268629.2:c.6001C>G	XP_005268686.1:p.Leu2001Val
XM_011537877.1:c.6001C>G	XP_011536179.1:p.Leu2001Val
XM_011537878.1:c.6001C>G	XP_011536180.1:p.Leu2001Val
XM_011537879.1:c.4798C>G	XP_011536181.1:p.Leu1600Val
XM_005268629.4:c.6001C>G	XP_005268686.1:p.Leu2001Val
XM_011537877.3:c.6001C>G	XP_011536179.1:p.Leu2001Val
XM_017018787.1:c.2917C>G	XP_016874276.1:p.Leu973Val
XM_017018788.2:c.2263C>G	XP_016874277.1:p.Leu755Val
XM_024448833.1:c.4798C>G	XP_024304601.1:p.Leu1600Val
NM_198578.4:c.6001C>G MANE Select	NP_940980.4:p.Leu2001Val