Canonical Allele Identifier: CA235343619

Gene: LRRK2

Linked Data

• dbSNP Id: rs200206597
• gnomAD v2: 12-40745411-T-A
• gnomAD v3: 12-40351609-T-A
• gnomAD v4: 12-40351609-T-A
• MyVariant Identifiers: chr12:g.40745411T>A (hg19) ; chr12:g.40351609T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351609T>A , CM000674.2:g.40351609T>A	GRCh38
NC_000012.11:g.40745411T>A , CM000674.1:g.40745411T>A	GRCh37
NC_000012.10:g.39031678T>A	NCBI36
NG_011709.1:g.131599T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6452T>A MANE Select	ENSP00000298910.7:p.Ile2151Asn
ENST00000636518.1:c.249T>A
ENST00000679360.1:c.*5361T>A	ENSP00000505368.1:n.*5361T>A
ENST00000679532.1:c.2226T>A
ENST00000679683.1:c.242T>A
ENST00000680018.1:c.1897T>A	ENSP00000505347.1:n.1897T>A
ENST00000680422.1:c.2097T>A
ENST00000680425.1:c.1619T>A	ENSP00000506459.1:n.1619T>A
ENST00000680453.1:c.1909T>A
ENST00000680790.1:c.6197T>A	ENSP00000505335.1:p.Ile2066Asn
ENST00000681136.1:n.2436T>A
ENST00000681696.1:c.2135T>A	ENSP00000505871.1:p.Ile712Asn
ENST00000298910.11:c.6452T>A	ENSP00000298910.7:p.Ile2151Asn
ENST00000430804.5:c.3748T>A
ENST00000479187.5:n.3133T>A
NM_198578.3:c.6452T>A	NP_940980.3:p.Ile2151Asn
XM_005268629.2:c.6452T>A	XP_005268686.1:p.Ile2151Asn
XM_011537877.1:c.6452T>A	XP_011536179.1:p.Ile2151Asn
XM_011537878.1:c.6452T>A	XP_011536180.1:p.Ile2151Asn
XM_011537879.1:c.5249T>A	XP_011536181.1:p.Ile1750Asn
XM_005268629.4:c.6452T>A	XP_005268686.1:p.Ile2151Asn
XM_011537877.3:c.6452T>A	XP_011536179.1:p.Ile2151Asn
XM_017018787.1:c.3368T>A	XP_016874276.1:p.Ile1123Asn
XM_017018788.2:c.2714T>A	XP_016874277.1:p.Ile905Asn
XM_024448833.1:c.5249T>A	XP_024304601.1:p.Ile1750Asn
NM_198578.4:c.6452T>A MANE Select	NP_940980.4:p.Ile2151Asn