Canonical Allele Identifier: CA384419819
Gene: LRRK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40321041G>C , CM000674.2:g.40321041G>C GRCh38
NC_000012.11:g.40714843G>C , CM000674.1:g.40714843G>C GRCh37
NC_000012.10:g.39001110G>C NCBI36
NG_011709.1:g.101031G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298910.12:c.5023G>C MANE Select ENSP00000298910.7:p.Asp1675His
ENST00000679360.1:c.*3932G>C ENSP00000505368.1:n.*3932G>C
ENST00000679532.1:c.797G>C
ENST00000680018.1:c.468G>C ENSP00000505347.1:n.468G>C
ENST00000680422.1:c.668G>C
ENST00000680425.1:c.190G>C ENSP00000506459.1:n.190G>C
ENST00000680453.1:c.480G>C
ENST00000680790.1:c.4768G>C ENSP00000505335.1:p.Asp1590His
ENST00000681136.1:n.1007G>C
ENST00000681696.1:c.706G>C ENSP00000505871.1:p.Asp236His
ENST00000298910.11:c.5023G>C ENSP00000298910.7:p.Asp1675His
ENST00000430804.5:c.2319G>C
ENST00000479187.5:n.1704G>C
NM_198578.3:c.5023G>C NP_940980.3:p.Asp1675His
XM_005268629.2:c.5023G>C XP_005268686.1:p.Asp1675His
XM_011537877.1:c.5023G>C XP_011536179.1:p.Asp1675His
XM_011537878.1:c.5023G>C XP_011536180.1:p.Asp1675His
XM_011537879.1:c.3820G>C XP_011536181.1:p.Asp1274His
XM_011537881.1:c.4835G>C XP_011536183.1:p.Ter1612Ser
XM_005268629.4:c.5023G>C XP_005268686.1:p.Asp1675His
XM_011537877.3:c.5023G>C XP_011536179.1:p.Asp1675His
XM_011537881.3:c.4835G>C XP_011536183.1:p.Ter1612Ser
XM_017018787.1:c.1939G>C XP_016874276.1:p.Asp647His
XM_017018788.2:c.1285G>C XP_016874277.1:p.Asp429His
XM_024448833.1:c.3820G>C XP_024304601.1:p.Asp1274His
XR_001748574.2:n.5391G>C
NM_198578.4:c.5023G>C MANE Select NP_940980.4:p.Asp1675His