Canonical Allele Identifier: CA235359619

Gene: LRRK2

Linked Data

• dbSNP Id: rs1025189687
• gnomAD v4: 12-40363458-C-T
• MyVariant Identifiers: chr12:g.40757260C>T (hg19) ; chr12:g.40363458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363458C>T , CM000674.2:g.40363458C>T	GRCh38
NC_000012.11:g.40757260C>T , CM000674.1:g.40757260C>T	GRCh37
NC_000012.10:g.39043527C>T	NCBI36
NG_011709.1:g.143448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7085C>T MANE Select	ENSP00000298910.7:p.Ala2362Val
ENST00000636518.1:c.882C>T
ENST00000679360.1:c.*5994C>T	ENSP00000505368.1:n.*5994C>T
ENST00000679532.1:c.2859C>T
ENST00000679683.1:c.875C>T
ENST00000680018.1:c.2530C>T	ENSP00000505347.1:n.2530C>T
ENST00000680422.1:c.4172C>T
ENST00000680425.1:c.2252C>T	ENSP00000506459.1:n.2252C>T
ENST00000680453.1:c.2542C>T
ENST00000680790.1:c.6830C>T	ENSP00000505335.1:p.Ala2277Val
ENST00000681136.1:n.3069C>T
ENST00000681696.1:c.2768C>T	ENSP00000505871.1:p.Ala923Val
ENST00000681773.1:n.292C>T
ENST00000298910.11:c.7085C>T	ENSP00000298910.7:p.Ala2362Val
ENST00000430804.5:c.4381C>T
ENST00000479187.5:n.3766C>T
NM_198578.3:c.7085C>T	NP_940980.3:p.Ala2362Val
XM_005268629.2:c.7085C>T	XP_005268686.1:p.Ala2362Val
XM_011537877.1:c.7085C>T	XP_011536179.1:p.Ala2362Val
XM_011537879.1:c.5882C>T	XP_011536181.1:p.Ala1961Val
XR_944868.1:n.485-8631G>A
XM_005268629.4:c.7085C>T	XP_005268686.1:p.Ala2362Val
XM_011537877.3:c.7085C>T	XP_011536179.1:p.Ala2362Val
XM_017018787.1:c.4001C>T	XP_016874276.1:p.Ala1334Val
XM_017018788.2:c.3347C>T	XP_016874277.1:p.Ala1116Val
XM_024448833.1:c.5882C>T	XP_024304601.1:p.Ala1961Val
XR_944868.2:n.485-8631G>A
NM_198578.4:c.7085C>T MANE Select	NP_940980.4:p.Ala2362Val