Canonical Allele Identifier: CA384413242

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1756978
• ClinVar RCV Id: RCV002365069
• MyVariant Identifiers: chr12:g.40757244G>C (hg19) ; chr12:g.40363442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363442G>C , CM000674.2:g.40363442G>C	GRCh38
NC_000012.11:g.40757244G>C , CM000674.1:g.40757244G>C	GRCh37
NC_000012.10:g.39043511G>C	NCBI36
NG_011709.1:g.143432G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7069G>C MANE Select	ENSP00000298910.7:p.Val2357Leu
ENST00000636518.1:c.866G>C
ENST00000679360.1:c.*5978G>C	ENSP00000505368.1:n.*5978G>C
ENST00000679532.1:c.2843G>C
ENST00000679683.1:c.859G>C
ENST00000680018.1:c.2514G>C	ENSP00000505347.1:n.2514G>C
ENST00000680422.1:c.4156G>C
ENST00000680425.1:c.2236G>C	ENSP00000506459.1:n.2236G>C
ENST00000680453.1:c.2526G>C
ENST00000680790.1:c.6814G>C	ENSP00000505335.1:p.Val2272Leu
ENST00000681136.1:n.3053G>C
ENST00000681696.1:c.2752G>C	ENSP00000505871.1:p.Val918Leu
ENST00000681773.1:n.276G>C
ENST00000298910.11:c.7069G>C	ENSP00000298910.7:p.Val2357Leu
ENST00000430804.5:c.4365G>C
ENST00000479187.5:n.3750G>C
NM_198578.3:c.7069G>C	NP_940980.3:p.Val2357Leu
XM_005268629.2:c.7069G>C	XP_005268686.1:p.Val2357Leu
XM_011537877.1:c.7069G>C	XP_011536179.1:p.Val2357Leu
XM_011537879.1:c.5866G>C	XP_011536181.1:p.Val1956Leu
XR_944868.1:n.485-8615C>G
XM_005268629.4:c.7069G>C	XP_005268686.1:p.Val2357Leu
XM_011537877.3:c.7069G>C	XP_011536179.1:p.Val2357Leu
XM_017018787.1:c.3985G>C	XP_016874276.1:p.Val1329Leu
XM_017018788.2:c.3331G>C	XP_016874277.1:p.Val1111Leu
XM_024448833.1:c.5866G>C	XP_024304601.1:p.Val1956Leu
XR_944868.2:n.485-8615C>G
NM_198578.4:c.7069G>C MANE Select	NP_940980.4:p.Val2357Leu