Canonical Allele Identifier: CA384406563

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745371G>A (hg19) ; chr12:g.40351569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351569G>A , CM000674.2:g.40351569G>A	GRCh38
NC_000012.11:g.40745371G>A , CM000674.1:g.40745371G>A	GRCh37
NC_000012.10:g.39031638G>A	NCBI36
NG_011709.1:g.131559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6412G>A MANE Select	ENSP00000298910.7:p.Val2138Ile
ENST00000636518.1:c.209G>A
ENST00000679360.1:c.*5321G>A	ENSP00000505368.1:n.*5321G>A
ENST00000679532.1:c.2186G>A
ENST00000679683.1:c.202G>A
ENST00000680018.1:c.1857G>A	ENSP00000505347.1:n.1857G>A
ENST00000680422.1:c.2057G>A
ENST00000680425.1:c.1579G>A	ENSP00000506459.1:n.1579G>A
ENST00000680453.1:c.1869G>A
ENST00000680790.1:c.6157G>A	ENSP00000505335.1:p.Val2053Ile
ENST00000681136.1:n.2396G>A
ENST00000681696.1:c.2095G>A	ENSP00000505871.1:p.Val699Ile
ENST00000298910.11:c.6412G>A	ENSP00000298910.7:p.Val2138Ile
ENST00000430804.5:c.3708G>A
ENST00000479187.5:n.3093G>A
NM_198578.3:c.6412G>A	NP_940980.3:p.Val2138Ile
XM_005268629.2:c.6412G>A	XP_005268686.1:p.Val2138Ile
XM_011537877.1:c.6412G>A	XP_011536179.1:p.Val2138Ile
XM_011537878.1:c.6412G>A	XP_011536180.1:p.Val2138Ile
XM_011537879.1:c.5209G>A	XP_011536181.1:p.Val1737Ile
XM_005268629.4:c.6412G>A	XP_005268686.1:p.Val2138Ile
XM_011537877.3:c.6412G>A	XP_011536179.1:p.Val2138Ile
XM_017018787.1:c.3328G>A	XP_016874276.1:p.Val1110Ile
XM_017018788.2:c.2674G>A	XP_016874277.1:p.Val892Ile
XM_024448833.1:c.5209G>A	XP_024304601.1:p.Val1737Ile
NM_198578.4:c.6412G>A MANE Select	NP_940980.4:p.Val2138Ile