Canonical Allele Identifier: CA384413430

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757298G>C (hg19) ; chr12:g.40363496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363496G>C , CM000674.2:g.40363496G>C	GRCh38
NC_000012.11:g.40757298G>C , CM000674.1:g.40757298G>C	GRCh37
NC_000012.10:g.39043565G>C	NCBI36
NG_011709.1:g.143486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7123G>C MANE Select	ENSP00000298910.7:p.Val2375Leu
ENST00000636518.1:c.920G>C
ENST00000679360.1:c.*6032G>C	ENSP00000505368.1:n.*6032G>C
ENST00000679532.1:c.2897G>C
ENST00000679683.1:c.913G>C
ENST00000680018.1:c.2568G>C	ENSP00000505347.1:n.2568G>C
ENST00000680422.1:c.4210G>C
ENST00000680425.1:c.2290G>C	ENSP00000506459.1:n.2290G>C
ENST00000680453.1:c.2580G>C
ENST00000680790.1:c.6868G>C	ENSP00000505335.1:p.Val2290Leu
ENST00000681136.1:n.3107G>C
ENST00000681696.1:c.2806G>C	ENSP00000505871.1:p.Val936Leu
ENST00000681773.1:n.330G>C
ENST00000298910.11:c.7123G>C	ENSP00000298910.7:p.Val2375Leu
ENST00000430804.5:c.4419G>C
ENST00000479187.5:n.3804G>C
NM_198578.3:c.7123G>C	NP_940980.3:p.Val2375Leu
XM_005268629.2:c.7123G>C	XP_005268686.1:p.Val2375Leu
XM_011537877.1:c.7123G>C	XP_011536179.1:p.Val2375Leu
XM_011537879.1:c.5920G>C	XP_011536181.1:p.Val1974Leu
XR_944868.1:n.485-8669C>G
XM_005268629.4:c.7123G>C	XP_005268686.1:p.Val2375Leu
XM_011537877.3:c.7123G>C	XP_011536179.1:p.Val2375Leu
XM_017018787.1:c.4039G>C	XP_016874276.1:p.Val1347Leu
XM_017018788.2:c.3385G>C	XP_016874277.1:p.Val1129Leu
XM_024448833.1:c.5920G>C	XP_024304601.1:p.Val1974Leu
XR_944868.2:n.485-8669C>G
NM_198578.4:c.7123G>C MANE Select	NP_940980.4:p.Val2375Leu