Canonical Allele Identifier: CA384403898

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40340382-G-A
• MyVariant Identifiers: chr12:g.40734184G>A (hg19) ; chr12:g.40340382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340382G>A , CM000674.2:g.40340382G>A	GRCh38
NC_000012.11:g.40734184G>A , CM000674.1:g.40734184G>A	GRCh37
NC_000012.10:g.39020451G>A	NCBI36
NG_011709.1:g.120372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6037G>A MANE Select	ENSP00000298910.7:p.Ala2013Thr
ENST00000679360.1:c.*4946G>A	ENSP00000505368.1:n.*4946G>A
ENST00000679532.1:c.1811G>A
ENST00000680018.1:c.1482G>A	ENSP00000505347.1:n.1482G>A
ENST00000680422.1:c.1682G>A
ENST00000680425.1:c.1204G>A	ENSP00000506459.1:n.1204G>A
ENST00000680453.1:c.1494G>A
ENST00000680790.1:c.5782G>A	ENSP00000505335.1:p.Ala1928Thr
ENST00000681136.1:n.2021G>A
ENST00000681696.1:c.1720G>A	ENSP00000505871.1:p.Ala574Thr
ENST00000298910.11:c.6037G>A	ENSP00000298910.7:p.Ala2013Thr
ENST00000430804.5:c.3333G>A
ENST00000479187.5:n.2718G>A
NM_198578.3:c.6037G>A	NP_940980.3:p.Ala2013Thr
XM_005268629.2:c.6037G>A	XP_005268686.1:p.Ala2013Thr
XM_011537877.1:c.6037G>A	XP_011536179.1:p.Ala2013Thr
XM_011537878.1:c.6037G>A	XP_011536180.1:p.Ala2013Thr
XM_011537879.1:c.4834G>A	XP_011536181.1:p.Ala1612Thr
XM_005268629.4:c.6037G>A	XP_005268686.1:p.Ala2013Thr
XM_011537877.3:c.6037G>A	XP_011536179.1:p.Ala2013Thr
XM_017018787.1:c.2953G>A	XP_016874276.1:p.Ala985Thr
XM_017018788.2:c.2299G>A	XP_016874277.1:p.Ala767Thr
XM_024448833.1:c.4834G>A	XP_024304601.1:p.Ala1612Thr
NM_198578.4:c.6037G>A MANE Select	NP_940980.4:p.Ala2013Thr