Canonical Allele Identifier: CA384413436

Gene: LRRK2

Linked Data

• dbSNP Id: rs1192524761
• gnomAD v2: 12-40757299-T-C
• gnomAD v4: 12-40363497-T-C
• COSMIC: COSM693187
• MyVariant Identifiers: chr12:g.40757299T>C (hg19) ; chr12:g.40363497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363497T>C , CM000674.2:g.40363497T>C	GRCh38
NC_000012.11:g.40757299T>C , CM000674.1:g.40757299T>C	GRCh37
NC_000012.10:g.39043566T>C	NCBI36
NG_011709.1:g.143487T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7124T>C MANE Select	ENSP00000298910.7:p.Val2375Ala
ENST00000636518.1:c.921T>C
ENST00000679360.1:c.*6033T>C	ENSP00000505368.1:n.*6033T>C
ENST00000679532.1:c.2898T>C
ENST00000679683.1:c.914T>C
ENST00000680018.1:c.2569T>C	ENSP00000505347.1:n.2569T>C
ENST00000680422.1:c.4211T>C
ENST00000680425.1:c.2291T>C	ENSP00000506459.1:n.2291T>C
ENST00000680453.1:c.2581T>C
ENST00000680790.1:c.6869T>C	ENSP00000505335.1:p.Val2290Ala
ENST00000681136.1:n.3108T>C
ENST00000681696.1:c.2807T>C	ENSP00000505871.1:p.Val936Ala
ENST00000681773.1:n.331T>C
ENST00000298910.11:c.7124T>C	ENSP00000298910.7:p.Val2375Ala
ENST00000430804.5:c.4420T>C
ENST00000479187.5:n.3805T>C
NM_198578.3:c.7124T>C	NP_940980.3:p.Val2375Ala
XM_005268629.2:c.7124T>C	XP_005268686.1:p.Val2375Ala
XM_011537877.1:c.7124T>C	XP_011536179.1:p.Val2375Ala
XM_011537879.1:c.5921T>C	XP_011536181.1:p.Val1974Ala
XR_944868.1:n.485-8670A>G
XM_005268629.4:c.7124T>C	XP_005268686.1:p.Val2375Ala
XM_011537877.3:c.7124T>C	XP_011536179.1:p.Val2375Ala
XM_017018787.1:c.4040T>C	XP_016874276.1:p.Val1347Ala
XM_017018788.2:c.3386T>C	XP_016874277.1:p.Val1129Ala
XM_024448833.1:c.5921T>C	XP_024304601.1:p.Val1974Ala
XR_944868.2:n.485-8670A>G
NM_198578.4:c.7124T>C MANE Select	NP_940980.4:p.Val2375Ala