Canonical Allele Identifier: CA479238793
Gene: LRRK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1751418
ClinVar RCV Id: RCV002359966
MyVariant Identifiers: chr12:g.40734225A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40340423A>G , CM000674.2:g.40340423A>G GRCh38
NC_000012.11:g.40734225A>G , CM000674.1:g.40734225A>G GRCh37
NC_000012.10:g.39020492A>G NCBI36
NG_011709.1:g.120413A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298910.12:c.6078A>G MANE Select ENSP00000298910.7:p.Arg2026=
ENST00000679360.1:c.*4987A>G ENSP00000505368.1:n.*4987A>G
ENST00000679532.1:c.1852A>G
ENST00000680018.1:c.1523A>G ENSP00000505347.1:n.1523A>G
ENST00000680422.1:c.1723A>G
ENST00000680425.1:c.1245A>G ENSP00000506459.1:n.1245A>G
ENST00000680453.1:c.1535A>G
ENST00000680790.1:c.5823A>G ENSP00000505335.1:p.Arg1941=
ENST00000681136.1:n.2062A>G
ENST00000681696.1:c.1761A>G ENSP00000505871.1:p.Arg587=
ENST00000298910.11:c.6078A>G ENSP00000298910.7:p.Arg2026=
ENST00000430804.5:c.3374A>G
ENST00000479187.5:n.2759A>G
NM_198578.3:c.6078A>G NP_940980.3:p.Arg2026=
XM_005268629.2:c.6078A>G XP_005268686.1:p.Arg2026=
XM_011537877.1:c.6078A>G XP_011536179.1:p.Arg2026=
XM_011537878.1:c.6078A>G XP_011536180.1:p.Arg2026=
XM_011537879.1:c.4875A>G XP_011536181.1:p.Arg1625=
XM_005268629.4:c.6078A>G XP_005268686.1:p.Arg2026=
XM_011537877.3:c.6078A>G XP_011536179.1:p.Arg2026=
XM_017018787.1:c.2994A>G XP_016874276.1:p.Arg998=
XM_017018788.2:c.2340A>G XP_016874277.1:p.Arg780=
XM_024448833.1:c.4875A>G XP_024304601.1:p.Arg1625=
NM_198578.4:c.6078A>G MANE Select NP_940980.4:p.Arg2026=