Canonical Allele Identifier: CA339920
Gene: LRRK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1937
ClinVar RCV Id: RCV000002014
dbSNP Id: rs35801418
MyVariant Identifiers: chr12:g.40714916A>G (hg19) chr12:g.40321114A>G (hg38)
PubMed: PMID:15541308 PMID:15541309 PMID:16003110 PMID:18591067 PMID:20301387
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40321114A>G , CM000674.2:g.40321114A>G GRCh38
NC_000012.11:g.40714916A>G , CM000674.1:g.40714916A>G GRCh37
NC_000012.10:g.39001183A>G NCBI36
NG_011709.1:g.101104A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298910.12:c.5096A>G MANE Select ENSP00000298910.7:p.Tyr1699Cys
ENST00000679360.1:c.*4005A>G ENSP00000505368.1:n.*4005A>G
ENST00000679532.1:c.870A>G
ENST00000680018.1:c.541A>G ENSP00000505347.1:n.541A>G
ENST00000680422.1:c.741A>G
ENST00000680425.1:c.263A>G ENSP00000506459.1:n.263A>G
ENST00000680453.1:c.553A>G
ENST00000680790.1:c.4841A>G ENSP00000505335.1:p.Tyr1614Cys
ENST00000681136.1:n.1080A>G
ENST00000681696.1:c.779A>G ENSP00000505871.1:p.Tyr260Cys
ENST00000298910.11:c.5096A>G ENSP00000298910.7:p.Tyr1699Cys
ENST00000430804.5:c.2392A>G
ENST00000479187.5:n.1777A>G
NM_198578.3:c.5096A>G NP_940980.3:p.Tyr1699Cys
XM_005268629.2:c.5096A>G XP_005268686.1:p.Tyr1699Cys
XM_011537877.1:c.5096A>G XP_011536179.1:p.Tyr1699Cys
XM_011537878.1:c.5096A>G XP_011536180.1:p.Tyr1699Cys
XM_011537879.1:c.3893A>G XP_011536181.1:p.Tyr1298Cys
XM_011537881.1:c.*72A>G XP_011536183.1:n.*72A>G
XM_005268629.4:c.5096A>G XP_005268686.1:p.Tyr1699Cys
XM_011537877.3:c.5096A>G XP_011536179.1:p.Tyr1699Cys
XM_011537881.3:c.*72A>G XP_011536183.1:n.*72A>G
XM_017018787.1:c.2012A>G XP_016874276.1:p.Tyr671Cys
XM_017018788.2:c.1358A>G XP_016874277.1:p.Tyr453Cys
XM_024448833.1:c.3893A>G XP_024304601.1:p.Tyr1298Cys
XR_001748574.2:n.5464A>G
NM_198578.4:c.5096A>G MANE Select NP_940980.4:p.Tyr1699Cys
Search 100 bp 5'
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