Canonical Allele Identifier: CA384419737
Gene: LRRK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40320151A>C , CM000674.2:g.40320151A>C GRCh38
NC_000012.11:g.40713953A>C , CM000674.1:g.40713953A>C GRCh37
NC_000012.10:g.39000220A>C NCBI36
NG_011709.1:g.100141A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.4991A>C MANE Select ENSP00000298910.7:p.Glu1664Ala
ENST00000679360.1:c.*3900A>C ENSP00000505368.1:n.*3900A>C
ENST00000679532.1:c.765A>C
ENST00000680018.1:c.436A>C ENSP00000505347.1:n.436A>C
ENST00000680422.1:c.636A>C
ENST00000680425.1:c.183-883A>C ENSP00000506459.1:n.183-883A>C
ENST00000680453.1:c.473-883A>C
ENST00000680790.1:c.4736A>C ENSP00000505335.1:p.Glu1579Ala
ENST00000681136.1:n.975A>C
ENST00000681696.1:c.674A>C ENSP00000505871.1:p.Glu225Ala
ENST00000298910.11:c.4991A>C ENSP00000298910.7:p.Glu1664Ala
ENST00000430804.5:c.2287A>C
ENST00000479187.5:n.1672A>C
NM_198578.3:c.4991A>C NP_940980.3:p.Glu1664Ala
XM_005268629.2:c.4991A>C XP_005268686.1:p.Glu1664Ala
XM_011537877.1:c.4991A>C XP_011536179.1:p.Glu1664Ala
XM_011537878.1:c.4991A>C XP_011536180.1:p.Glu1664Ala
XM_011537879.1:c.3788A>C XP_011536181.1:p.Glu1263Ala
XM_011537881.1:c.4828-883A>C XP_011536183.1:n.4828-883A>C
XM_005268629.4:c.4991A>C XP_005268686.1:p.Glu1664Ala
XM_011537877.3:c.4991A>C XP_011536179.1:p.Glu1664Ala
XM_011537881.3:c.4828-883A>C XP_011536183.1:n.4828-883A>C
XM_017018787.1:c.1907A>C XP_016874276.1:p.Glu636Ala
XM_017018788.2:c.1253A>C XP_016874277.1:p.Glu418Ala
XM_024448833.1:c.3788A>C XP_024304601.1:p.Glu1263Ala
XR_001748574.2:n.5359A>C
NM_198578.4:c.4991A>C MANE Select NP_940980.4:p.Glu1664Ala