Canonical Allele Identifier: CA384403966

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40340396-C-A
• MyVariant Identifiers: chr12:g.40734198C>A (hg19) ; chr12:g.40340396C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340396C>A , CM000674.2:g.40340396C>A	GRCh38
NC_000012.11:g.40734198C>A , CM000674.1:g.40734198C>A	GRCh37
NC_000012.10:g.39020465C>A	NCBI36
NG_011709.1:g.120386C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6051C>A MANE Select	ENSP00000298910.7:p.Asp2017Glu
ENST00000679360.1:c.*4960C>A	ENSP00000505368.1:n.*4960C>A
ENST00000679532.1:c.1825C>A
ENST00000680018.1:c.1496C>A	ENSP00000505347.1:n.1496C>A
ENST00000680422.1:c.1696C>A
ENST00000680425.1:c.1218C>A	ENSP00000506459.1:n.1218C>A
ENST00000680453.1:c.1508C>A
ENST00000680790.1:c.5796C>A	ENSP00000505335.1:p.Asp1932Glu
ENST00000681136.1:n.2035C>A
ENST00000681696.1:c.1734C>A	ENSP00000505871.1:p.Asp578Glu
ENST00000298910.11:c.6051C>A	ENSP00000298910.7:p.Asp2017Glu
ENST00000430804.5:c.3347C>A
ENST00000479187.5:n.2732C>A
NM_198578.3:c.6051C>A	NP_940980.3:p.Asp2017Glu
XM_005268629.2:c.6051C>A	XP_005268686.1:p.Asp2017Glu
XM_011537877.1:c.6051C>A	XP_011536179.1:p.Asp2017Glu
XM_011537878.1:c.6051C>A	XP_011536180.1:p.Asp2017Glu
XM_011537879.1:c.4848C>A	XP_011536181.1:p.Asp1616Glu
XM_005268629.4:c.6051C>A	XP_005268686.1:p.Asp2017Glu
XM_011537877.3:c.6051C>A	XP_011536179.1:p.Asp2017Glu
XM_017018787.1:c.2967C>A	XP_016874276.1:p.Asp989Glu
XM_017018788.2:c.2313C>A	XP_016874277.1:p.Asp771Glu
XM_024448833.1:c.4848C>A	XP_024304601.1:p.Asp1616Glu
NM_198578.4:c.6051C>A MANE Select	NP_940980.4:p.Asp2017Glu