Canonical Allele Identifier: CA384413338
Gene: LRRK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40363470C>T , CM000674.2:g.40363470C>T GRCh38
NC_000012.11:g.40757272C>T , CM000674.1:g.40757272C>T GRCh37
NC_000012.10:g.39043539C>T NCBI36
NG_011709.1:g.143460C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.7097C>T MANE Select ENSP00000298910.7:p.Ala2366Val
ENST00000636518.1:c.894C>T
ENST00000679360.1:c.*6006C>T ENSP00000505368.1:n.*6006C>T
ENST00000679532.1:c.2871C>T
ENST00000679683.1:c.887C>T
ENST00000680018.1:c.2542C>T ENSP00000505347.1:n.2542C>T
ENST00000680422.1:c.4184C>T
ENST00000680425.1:c.2264C>T ENSP00000506459.1:n.2264C>T
ENST00000680453.1:c.2554C>T
ENST00000680790.1:c.6842C>T ENSP00000505335.1:p.Ala2281Val
ENST00000681136.1:n.3081C>T
ENST00000681696.1:c.2780C>T ENSP00000505871.1:p.Ala927Val
ENST00000681773.1:n.304C>T
ENST00000298910.11:c.7097C>T ENSP00000298910.7:p.Ala2366Val
ENST00000430804.5:c.4393C>T
ENST00000479187.5:n.3778C>T
NM_198578.3:c.7097C>T NP_940980.3:p.Ala2366Val
XM_005268629.2:c.7097C>T XP_005268686.1:p.Ala2366Val
XM_011537877.1:c.7097C>T XP_011536179.1:p.Ala2366Val
XM_011537879.1:c.5894C>T XP_011536181.1:p.Ala1965Val
XR_944868.1:n.485-8643G>A
XM_005268629.4:c.7097C>T XP_005268686.1:p.Ala2366Val
XM_011537877.3:c.7097C>T XP_011536179.1:p.Ala2366Val
XM_017018787.1:c.4013C>T XP_016874276.1:p.Ala1338Val
XM_017018788.2:c.3359C>T XP_016874277.1:p.Ala1120Val
XM_024448833.1:c.5894C>T XP_024304601.1:p.Ala1965Val
XR_944868.2:n.485-8643G>A
NM_198578.4:c.7097C>T MANE Select NP_940980.4:p.Ala2366Val