Canonical Allele Identifier: CA6514116

Gene: LRRK2

Linked Data

• dbSNP Id: rs761083558
• ExAC: 12:40702926 G / A
• gnomAD v2: 12-40702926-G-A
• gnomAD v4: 12-40309124-G-A
• MyVariant Identifiers: chr12:g.40702926G>A (hg19) ; chr12:g.40309124G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40309124G>A , CM000674.2:g.40309124G>A	GRCh38
NC_000012.11:g.40702926G>A , CM000674.1:g.40702926G>A	GRCh37
NC_000012.10:g.38989193G>A	NCBI36
NG_011709.1:g.89114G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4208G>A MANE Select	ENSP00000298910.7:p.Ser1403Asn
ENST00000679360.1:c.*3117G>A	ENSP00000505368.1:n.*3117G>A
ENST00000680790.1:c.3953G>A	ENSP00000505335.1:p.Ser1318Asn
ENST00000298910.11:c.4208G>A	ENSP00000298910.7:p.Ser1403Asn
ENST00000430804.5:c.1504G>A
ENST00000479187.5:n.889G>A
NM_198578.3:c.4208G>A	NP_940980.3:p.Ser1403Asn
XM_005268629.2:c.4208G>A	XP_005268686.1:p.Ser1403Asn
XM_011537877.1:c.4208G>A	XP_011536179.1:p.Ser1403Asn
XM_011537878.1:c.4208G>A	XP_011536180.1:p.Ser1403Asn
XM_011537879.1:c.3005G>A	XP_011536181.1:p.Ser1002Asn
XM_011537880.1:c.4208G>A	XP_011536182.1:p.Ser1403Asn
XM_011537881.1:c.4208G>A	XP_011536183.1:p.Ser1403Asn
XM_005268629.4:c.4208G>A	XP_005268686.1:p.Ser1403Asn
XM_011537877.3:c.4208G>A	XP_011536179.1:p.Ser1403Asn
XM_011537881.3:c.4208G>A	XP_011536183.1:p.Ser1403Asn
XM_017018786.2:c.4208G>A	XP_016874275.1:p.Ser1403Asn
XM_017018787.1:c.1124G>A	XP_016874276.1:p.Ser375Asn
XM_017018788.2:c.470G>A	XP_016874277.1:p.Ser157Asn
XM_024448833.1:c.3005G>A	XP_024304601.1:p.Ser1002Asn
XR_001748574.2:n.4450G>A
NM_198578.4:c.4208G>A MANE Select	NP_940980.4:p.Ser1403Asn