Canonical Allele Identifier: CA6514700

Gene: LRRK2

Linked Data

• dbSNP Id: rs758900900
• ExAC: 12:40745462 G / A
• gnomAD v2: 12-40745462-G-A
• gnomAD v4: 12-40351660-G-A
• COSMIC: COSM5369607 ; COSM5369608
• MyVariant Identifiers: chr12:g.40745462G>A (hg19) ; chr12:g.40351660G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351660G>A , CM000674.2:g.40351660G>A	GRCh38
NC_000012.11:g.40745462G>A , CM000674.1:g.40745462G>A	GRCh37
NC_000012.10:g.39031729G>A	NCBI36
NG_011709.1:g.131650G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6503G>A MANE Select	ENSP00000298910.7:p.Trp2168Ter
ENST00000636518.1:c.300G>A
ENST00000679360.1:c.*5412G>A	ENSP00000505368.1:n.*5412G>A
ENST00000679532.1:c.2277G>A
ENST00000679683.1:c.293G>A
ENST00000680018.1:c.1948G>A	ENSP00000505347.1:n.1948G>A
ENST00000680422.1:c.2148G>A
ENST00000680425.1:c.1670G>A	ENSP00000506459.1:n.1670G>A
ENST00000680453.1:c.1960G>A
ENST00000680790.1:c.6248G>A	ENSP00000505335.1:p.Trp2083Ter
ENST00000681136.1:n.2487G>A
ENST00000681696.1:c.2186G>A	ENSP00000505871.1:p.Trp729Ter
ENST00000298910.11:c.6503G>A	ENSP00000298910.7:p.Trp2168Ter
ENST00000430804.5:c.3799G>A
ENST00000479187.5:n.3184G>A
NM_198578.3:c.6503G>A	NP_940980.3:p.Trp2168Ter
XM_005268629.2:c.6503G>A	XP_005268686.1:p.Trp2168Ter
XM_011537877.1:c.6503G>A	XP_011536179.1:p.Trp2168Ter
XM_011537878.1:c.6503G>A	XP_011536180.1:p.Trp2168Ter
XM_011537879.1:c.5300G>A	XP_011536181.1:p.Trp1767Ter
XM_005268629.4:c.6503G>A	XP_005268686.1:p.Trp2168Ter
XM_011537877.3:c.6503G>A	XP_011536179.1:p.Trp2168Ter
XM_017018787.1:c.3419G>A	XP_016874276.1:p.Trp1140Ter
XM_017018788.2:c.2765G>A	XP_016874277.1:p.Trp922Ter
XM_024448833.1:c.5300G>A	XP_024304601.1:p.Trp1767Ter
NM_198578.4:c.6503G>A MANE Select	NP_940980.4:p.Trp2168Ter