Canonical Allele Identifier: CA339928
Gene: LRRK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1941
ClinVar RCV Id: RCV000002018 RCV001311806
dbSNP Id: rs35870237
MyVariant Identifiers: chr12:g.40734206T>C (hg19) chr12:g.40340404T>C (hg38)
PubMed: PMID:9276200 PMID:15541309 PMID:15880653 PMID:16321986 PMID:20301387
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40340404T>C , CM000674.2:g.40340404T>C GRCh38
NC_000012.11:g.40734206T>C , CM000674.1:g.40734206T>C GRCh37
NC_000012.10:g.39020473T>C NCBI36
NG_011709.1:g.120394T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298910.12:c.6059T>C MANE Select ENSP00000298910.7:p.Ile2020Thr
ENST00000679360.1:c.*4968T>C ENSP00000505368.1:n.*4968T>C
ENST00000679532.1:c.1833T>C
ENST00000680018.1:c.1504T>C ENSP00000505347.1:n.1504T>C
ENST00000680422.1:c.1704T>C
ENST00000680425.1:c.1226T>C ENSP00000506459.1:n.1226T>C
ENST00000680453.1:c.1516T>C
ENST00000680790.1:c.5804T>C ENSP00000505335.1:p.Ile1935Thr
ENST00000681136.1:n.2043T>C
ENST00000681696.1:c.1742T>C ENSP00000505871.1:p.Ile581Thr
ENST00000298910.11:c.6059T>C ENSP00000298910.7:p.Ile2020Thr
ENST00000430804.5:c.3355T>C
ENST00000479187.5:n.2740T>C
NM_198578.3:c.6059T>C NP_940980.3:p.Ile2020Thr
XM_005268629.2:c.6059T>C XP_005268686.1:p.Ile2020Thr
XM_011537877.1:c.6059T>C XP_011536179.1:p.Ile2020Thr
XM_011537878.1:c.6059T>C XP_011536180.1:p.Ile2020Thr
XM_011537879.1:c.4856T>C XP_011536181.1:p.Ile1619Thr
XM_005268629.4:c.6059T>C XP_005268686.1:p.Ile2020Thr
XM_011537877.3:c.6059T>C XP_011536179.1:p.Ile2020Thr
XM_017018787.1:c.2975T>C XP_016874276.1:p.Ile992Thr
XM_017018788.2:c.2321T>C XP_016874277.1:p.Ile774Thr
XM_024448833.1:c.4856T>C XP_024304601.1:p.Ile1619Thr
NM_198578.4:c.6059T>C MANE Select NP_940980.4:p.Ile2020Thr
Search 100 bp 5'
Search 100 bp 3'