Canonical Allele Identifier: CA339928

Gene: LRRK2

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

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