Canonical Allele Identifier: CA479240870

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745343C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351541C>A , CM000674.2:g.40351541C>A	GRCh38
NC_000012.11:g.40745343C>A , CM000674.1:g.40745343C>A	GRCh37
NC_000012.10:g.39031610C>A	NCBI36
NG_011709.1:g.131531C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6384C>A MANE Select	ENSP00000298910.7:p.Val2128=
ENST00000636518.1:c.181C>A
ENST00000679360.1:c.*5293C>A	ENSP00000505368.1:n.*5293C>A
ENST00000679532.1:c.2158C>A
ENST00000679683.1:c.174C>A
ENST00000680018.1:c.1829C>A	ENSP00000505347.1:n.1829C>A
ENST00000680422.1:c.2029C>A
ENST00000680425.1:c.1551C>A	ENSP00000506459.1:n.1551C>A
ENST00000680453.1:c.1841C>A
ENST00000680790.1:c.6129C>A	ENSP00000505335.1:p.Val2043=
ENST00000681136.1:n.2368C>A
ENST00000681696.1:c.2067C>A	ENSP00000505871.1:p.Val689=
ENST00000298910.11:c.6384C>A	ENSP00000298910.7:p.Val2128=
ENST00000430804.5:c.3680C>A
ENST00000479187.5:n.3065C>A
NM_198578.3:c.6384C>A	NP_940980.3:p.Val2128=
XM_005268629.2:c.6384C>A	XP_005268686.1:p.Val2128=
XM_011537877.1:c.6384C>A	XP_011536179.1:p.Val2128=
XM_011537878.1:c.6384C>A	XP_011536180.1:p.Val2128=
XM_011537879.1:c.5181C>A	XP_011536181.1:p.Val1727=
XM_005268629.4:c.6384C>A	XP_005268686.1:p.Val2128=
XM_011537877.3:c.6384C>A	XP_011536179.1:p.Val2128=
XM_017018787.1:c.3300C>A	XP_016874276.1:p.Val1100=
XM_017018788.2:c.2646C>A	XP_016874277.1:p.Val882=
XM_024448833.1:c.5181C>A	XP_024304601.1:p.Val1727=
NM_198578.4:c.6384C>A MANE Select	NP_940980.4:p.Val2128=