Canonical Allele Identifier: CA384419826

Gene: LRRK2

Linked Data

• dbSNP Id: rs1222320413
• gnomAD v2: 12-40714845-C-G
• gnomAD v4: 12-40321043-C-G
• MyVariant Identifiers: chr12:g.40714845C>G (hg19) ; chr12:g.40321043C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40321043C>G , CM000674.2:g.40321043C>G	GRCh38
NC_000012.11:g.40714845C>G , CM000674.1:g.40714845C>G	GRCh37
NC_000012.10:g.39001112C>G	NCBI36
NG_011709.1:g.101033C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5025C>G MANE Select	ENSP00000298910.7:p.Asp1675Glu
ENST00000679360.1:c.*3934C>G	ENSP00000505368.1:n.*3934C>G
ENST00000679532.1:c.799C>G
ENST00000680018.1:c.470C>G	ENSP00000505347.1:n.470C>G
ENST00000680422.1:c.670C>G
ENST00000680425.1:c.192C>G	ENSP00000506459.1:n.192C>G
ENST00000680453.1:c.482C>G
ENST00000680790.1:c.4770C>G	ENSP00000505335.1:p.Asp1590Glu
ENST00000681136.1:n.1009C>G
ENST00000681696.1:c.708C>G	ENSP00000505871.1:p.Asp236Glu
ENST00000298910.11:c.5025C>G	ENSP00000298910.7:p.Asp1675Glu
ENST00000430804.5:c.2321C>G
ENST00000479187.5:n.1706C>G
NM_198578.3:c.5025C>G	NP_940980.3:p.Asp1675Glu
XM_005268629.2:c.5025C>G	XP_005268686.1:p.Asp1675Glu
XM_011537877.1:c.5025C>G	XP_011536179.1:p.Asp1675Glu
XM_011537878.1:c.5025C>G	XP_011536180.1:p.Asp1675Glu
XM_011537879.1:c.3822C>G	XP_011536181.1:p.Asp1274Glu
XM_011537881.1:c.*1C>G	XP_011536183.1:n.*1C>G
XM_005268629.4:c.5025C>G	XP_005268686.1:p.Asp1675Glu
XM_011537877.3:c.5025C>G	XP_011536179.1:p.Asp1675Glu
XM_011537881.3:c.*1C>G	XP_011536183.1:n.*1C>G
XM_017018787.1:c.1941C>G	XP_016874276.1:p.Asp647Glu
XM_017018788.2:c.1287C>G	XP_016874277.1:p.Asp429Glu
XM_024448833.1:c.3822C>G	XP_024304601.1:p.Asp1274Glu
XR_001748574.2:n.5393C>G
NM_198578.4:c.5025C>G MANE Select	NP_940980.4:p.Asp1675Glu