Canonical Allele Identifier: CA384406434

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745344T>A (hg19) ; chr12:g.40351542T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351542T>A , CM000674.2:g.40351542T>A	GRCh38
NC_000012.11:g.40745344T>A , CM000674.1:g.40745344T>A	GRCh37
NC_000012.10:g.39031611T>A	NCBI36
NG_011709.1:g.131532T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6385T>A MANE Select	ENSP00000298910.7:p.Phe2129Ile
ENST00000636518.1:c.182T>A
ENST00000679360.1:c.*5294T>A	ENSP00000505368.1:n.*5294T>A
ENST00000679532.1:c.2159T>A
ENST00000679683.1:c.175T>A
ENST00000680018.1:c.1830T>A	ENSP00000505347.1:n.1830T>A
ENST00000680422.1:c.2030T>A
ENST00000680425.1:c.1552T>A	ENSP00000506459.1:n.1552T>A
ENST00000680453.1:c.1842T>A
ENST00000680790.1:c.6130T>A	ENSP00000505335.1:p.Phe2044Ile
ENST00000681136.1:n.2369T>A
ENST00000681696.1:c.2068T>A	ENSP00000505871.1:p.Phe690Ile
ENST00000298910.11:c.6385T>A	ENSP00000298910.7:p.Phe2129Ile
ENST00000430804.5:c.3681T>A
ENST00000479187.5:n.3066T>A
NM_198578.3:c.6385T>A	NP_940980.3:p.Phe2129Ile
XM_005268629.2:c.6385T>A	XP_005268686.1:p.Phe2129Ile
XM_011537877.1:c.6385T>A	XP_011536179.1:p.Phe2129Ile
XM_011537878.1:c.6385T>A	XP_011536180.1:p.Phe2129Ile
XM_011537879.1:c.5182T>A	XP_011536181.1:p.Phe1728Ile
XM_005268629.4:c.6385T>A	XP_005268686.1:p.Phe2129Ile
XM_011537877.3:c.6385T>A	XP_011536179.1:p.Phe2129Ile
XM_017018787.1:c.3301T>A	XP_016874276.1:p.Phe1101Ile
XM_017018788.2:c.2647T>A	XP_016874277.1:p.Phe883Ile
XM_024448833.1:c.5182T>A	XP_024304601.1:p.Phe1728Ile
NM_198578.4:c.6385T>A MANE Select	NP_940980.4:p.Phe2129Ile