Canonical Allele Identifier: CA384413522

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757320A>T (hg19) ; chr12:g.40363518A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363518A>T , CM000674.2:g.40363518A>T	GRCh38
NC_000012.11:g.40757320A>T , CM000674.1:g.40757320A>T	GRCh37
NC_000012.10:g.39043587A>T	NCBI36
NG_011709.1:g.143508A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7145A>T MANE Select	ENSP00000298910.7:p.Lys2382Ile
ENST00000636518.1:c.942A>T
ENST00000679360.1:c.*6054A>T	ENSP00000505368.1:n.*6054A>T
ENST00000679532.1:c.2919A>T
ENST00000679683.1:c.935A>T
ENST00000680018.1:c.2590A>T	ENSP00000505347.1:n.2590A>T
ENST00000680422.1:c.4232A>T
ENST00000680425.1:c.2312A>T	ENSP00000506459.1:n.2312A>T
ENST00000680453.1:c.2602A>T
ENST00000680790.1:c.6890A>T	ENSP00000505335.1:p.Lys2297Ile
ENST00000681136.1:n.3129A>T
ENST00000681696.1:c.2828A>T	ENSP00000505871.1:p.Lys943Ile
ENST00000681773.1:n.352A>T
ENST00000298910.11:c.7145A>T	ENSP00000298910.7:p.Lys2382Ile
ENST00000430804.5:c.4441A>T
ENST00000479187.5:n.3826A>T
NM_198578.3:c.7145A>T	NP_940980.3:p.Lys2382Ile
XM_005268629.2:c.7145A>T	XP_005268686.1:p.Lys2382Ile
XM_011537877.1:c.7145A>T	XP_011536179.1:p.Lys2382Ile
XM_011537879.1:c.5942A>T	XP_011536181.1:p.Lys1981Ile
XR_944868.1:n.485-8691T>A
XM_005268629.4:c.7145A>T	XP_005268686.1:p.Lys2382Ile
XM_011537877.3:c.7145A>T	XP_011536179.1:p.Lys2382Ile
XM_017018787.1:c.4061A>T	XP_016874276.1:p.Lys1354Ile
XM_017018788.2:c.3407A>T	XP_016874277.1:p.Lys1136Ile
XM_024448833.1:c.5942A>T	XP_024304601.1:p.Lys1981Ile
XR_944868.2:n.485-8691T>A
NM_198578.4:c.7145A>T MANE Select	NP_940980.4:p.Lys2382Ile