Canonical Allele Identifier: CA384419632
Gene: LRRK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40320102C>T , CM000674.2:g.40320102C>T GRCh38
NC_000012.11:g.40713904C>T , CM000674.1:g.40713904C>T GRCh37
NC_000012.10:g.39000171C>T NCBI36
NG_011709.1:g.100092C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.4942C>T MANE Select ENSP00000298910.7:p.Gln1648Ter
ENST00000679360.1:c.*3851C>T ENSP00000505368.1:n.*3851C>T
ENST00000679532.1:c.716C>T
ENST00000680018.1:c.387C>T ENSP00000505347.1:n.387C>T
ENST00000680422.1:c.587C>T
ENST00000680425.1:c.183-932C>T ENSP00000506459.1:n.183-932C>T
ENST00000680453.1:c.473-932C>T
ENST00000680790.1:c.4687C>T ENSP00000505335.1:p.Gln1563Ter
ENST00000681136.1:n.926C>T
ENST00000681696.1:c.625C>T ENSP00000505871.1:p.Gln209Ter
ENST00000298910.11:c.4942C>T ENSP00000298910.7:p.Gln1648Ter
ENST00000430804.5:c.2238C>T
ENST00000479187.5:n.1623C>T
NM_198578.3:c.4942C>T NP_940980.3:p.Gln1648Ter
XM_005268629.2:c.4942C>T XP_005268686.1:p.Gln1648Ter
XM_011537877.1:c.4942C>T XP_011536179.1:p.Gln1648Ter
XM_011537878.1:c.4942C>T XP_011536180.1:p.Gln1648Ter
XM_011537879.1:c.3739C>T XP_011536181.1:p.Gln1247Ter
XM_011537881.1:c.4828-932C>T XP_011536183.1:n.4828-932C>T
XM_005268629.4:c.4942C>T XP_005268686.1:p.Gln1648Ter
XM_011537877.3:c.4942C>T XP_011536179.1:p.Gln1648Ter
XM_011537881.3:c.4828-932C>T XP_011536183.1:n.4828-932C>T
XM_017018787.1:c.1858C>T XP_016874276.1:p.Gln620Ter
XM_017018788.2:c.1204C>T XP_016874277.1:p.Gln402Ter
XM_024448833.1:c.3739C>T XP_024304601.1:p.Gln1247Ter
XR_001748574.2:n.5310C>T
NM_198578.4:c.4942C>T MANE Select NP_940980.4:p.Gln1648Ter