Canonical Allele Identifier: CA343563

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 39176
• ClinVar RCV Id: RCV000032450 ; RCV003389750
• dbSNP Id: rs17466213
• ExAC: 12:40702420 A / G
• gnomAD v2: 12-40702420-A-G
• gnomAD v3: 12-40308618-A-G
• gnomAD v4: 12-40308618-A-G
• MyVariant Identifiers: chr12:g.40702420A>G (hg19) ; chr12:g.40308618A>G (hg38)
• PubMed: PMID:16157901 ; PMID:16333314 ; PMID:17149743 ; PMID:17200152 ; PMID:17419834 ; PMID:18230735 ; PMID:18358451 ; PMID:19357115 ; PMID:20301387 ; PMID:20642453 ; PMID:20721913 ; PMID:21796139 ; PMID:21885347 ; PMID:24470158 ; PMID:24488318

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40308618A>G , CM000674.2:g.40308618A>G	GRCh38
NC_000012.11:g.40702420A>G , CM000674.1:g.40702420A>G	GRCh37
NC_000012.10:g.38988687A>G	NCBI36
NG_011709.1:g.88608A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4111A>G MANE Select	ENSP00000298910.7:p.Ile1371Val
ENST00000679360.1:c.*3020A>G	ENSP00000505368.1:n.*3020A>G
ENST00000680790.1:c.3856A>G	ENSP00000505335.1:p.Ile1286Val
ENST00000298910.11:c.4111A>G	ENSP00000298910.7:p.Ile1371Val
ENST00000430804.5:c.1407A>G
ENST00000479187.5:n.792A>G
NM_198578.3:c.4111A>G	NP_940980.3:p.Ile1371Val
XM_005268629.2:c.4111A>G	XP_005268686.1:p.Ile1371Val
XM_011537877.1:c.4111A>G	XP_011536179.1:p.Ile1371Val
XM_011537878.1:c.4111A>G	XP_011536180.1:p.Ile1371Val
XM_011537879.1:c.2908A>G	XP_011536181.1:p.Ile970Val
XM_011537880.1:c.4111A>G	XP_011536182.1:p.Ile1371Val
XM_011537881.1:c.4111A>G	XP_011536183.1:p.Ile1371Val
XM_005268629.4:c.4111A>G	XP_005268686.1:p.Ile1371Val
XM_011537877.3:c.4111A>G	XP_011536179.1:p.Ile1371Val
XM_011537881.3:c.4111A>G	XP_011536183.1:p.Ile1371Val
XM_017018786.2:c.4111A>G	XP_016874275.1:p.Ile1371Val
XM_017018787.1:c.1027A>G	XP_016874276.1:p.Ile343Val
XM_017018788.2:c.373A>G	XP_016874277.1:p.Ile125Val
XM_024448833.1:c.2908A>G	XP_024304601.1:p.Ile970Val
XR_001748574.2:n.4353A>G
NM_198578.4:c.4111A>G MANE Select	NP_940980.4:p.Ile1371Val