Canonical Allele Identifier: CA343634
Gene: LRRK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39212
ClinVar RCV Id: RCV000032486
dbSNP Id: rs281865052
MyVariant Identifiers: chr12:g.40717057A>G (hg19) chr12:g.40323255A>G (hg38)
PubMed: PMID:16633828 PMID:20301387
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40323255A>G , CM000674.2:g.40323255A>G GRCh38
NC_000012.11:g.40717057A>G , CM000674.1:g.40717057A>G GRCh37
NC_000012.10:g.39003324A>G NCBI36
NG_011709.1:g.103245A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298910.12:c.5605A>G MANE Select ENSP00000298910.7:p.Met1869Val
ENST00000679360.1:c.*4514A>G ENSP00000505368.1:n.*4514A>G
ENST00000679532.1:c.1379A>G
ENST00000680018.1:c.1050A>G ENSP00000505347.1:n.1050A>G
ENST00000680422.1:c.1250A>G
ENST00000680425.1:c.772A>G ENSP00000506459.1:n.772A>G
ENST00000680453.1:c.1062A>G
ENST00000680790.1:c.5350A>G ENSP00000505335.1:p.Met1784Val
ENST00000681136.1:n.1589A>G
ENST00000681696.1:c.1288A>G ENSP00000505871.1:p.Met430Val
ENST00000298910.11:c.5605A>G ENSP00000298910.7:p.Met1869Val
ENST00000430804.5:c.2901A>G
ENST00000479187.5:n.2286A>G
NM_198578.3:c.5605A>G NP_940980.3:p.Met1869Val
XM_005268629.2:c.5605A>G XP_005268686.1:p.Met1869Val
XM_011537877.1:c.5605A>G XP_011536179.1:p.Met1869Val
XM_011537878.1:c.5605A>G XP_011536180.1:p.Met1869Val
XM_011537879.1:c.4402A>G XP_011536181.1:p.Met1468Val
XM_005268629.4:c.5605A>G XP_005268686.1:p.Met1869Val
XM_011537877.3:c.5605A>G XP_011536179.1:p.Met1869Val
XM_017018787.1:c.2521A>G XP_016874276.1:p.Met841Val
XM_017018788.2:c.1867A>G XP_016874277.1:p.Met623Val
XM_024448833.1:c.4402A>G XP_024304601.1:p.Met1468Val
NM_198578.4:c.5605A>G MANE Select NP_940980.4:p.Met1869Val
Search 100 bp 5'
Search 100 bp 3'