Canonical Allele Identifier: CA384418163

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2453079
• ClinVar RCV Id: RCV003182534
• MyVariant Identifiers: chr12:g.40703000G>C (hg19) ; chr12:g.40309198G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40309198G>C , CM000674.2:g.40309198G>C	GRCh38
NC_000012.11:g.40703000G>C , CM000674.1:g.40703000G>C	GRCh37
NC_000012.10:g.38989267G>C	NCBI36
NG_011709.1:g.89188G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4282G>C MANE Select	ENSP00000298910.7:p.Val1428Leu
ENST00000679360.1:c.*3191G>C	ENSP00000505368.1:n.*3191G>C
ENST00000680790.1:c.4027G>C	ENSP00000505335.1:p.Val1343Leu
ENST00000298910.11:c.4282G>C	ENSP00000298910.7:p.Val1428Leu
ENST00000430804.5:c.1578G>C
ENST00000479187.5:n.963G>C
NM_198578.3:c.4282G>C	NP_940980.3:p.Val1428Leu
XM_005268629.2:c.4282G>C	XP_005268686.1:p.Val1428Leu
XM_011537877.1:c.4282G>C	XP_011536179.1:p.Val1428Leu
XM_011537878.1:c.4282G>C	XP_011536180.1:p.Val1428Leu
XM_011537879.1:c.3079G>C	XP_011536181.1:p.Val1027Leu
XM_011537880.1:c.4282G>C	XP_011536182.1:p.Val1428Leu
XM_011537881.1:c.4282G>C	XP_011536183.1:p.Val1428Leu
XM_005268629.4:c.4282G>C	XP_005268686.1:p.Val1428Leu
XM_011537877.3:c.4282G>C	XP_011536179.1:p.Val1428Leu
XM_011537881.3:c.4282G>C	XP_011536183.1:p.Val1428Leu
XM_017018786.2:c.4282G>C	XP_016874275.1:p.Val1428Leu
XM_017018787.1:c.1198G>C	XP_016874276.1:p.Val400Leu
XM_017018788.2:c.544G>C	XP_016874277.1:p.Val182Leu
XM_024448833.1:c.3079G>C	XP_024304601.1:p.Val1027Leu
XR_001748574.2:n.4524G>C
NM_198578.4:c.4282G>C MANE Select	NP_940980.4:p.Val1428Leu