Canonical Allele Identifier: CA384403706
Gene: LRRK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40340343G>T , CM000674.2:g.40340343G>T GRCh38
NC_000012.11:g.40734145G>T , CM000674.1:g.40734145G>T GRCh37
NC_000012.10:g.39020412G>T NCBI36
NG_011709.1:g.120333G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.5998G>T MANE Select ENSP00000298910.7:p.Val2000Leu
ENST00000679360.1:c.*4907G>T ENSP00000505368.1:n.*4907G>T
ENST00000679532.1:c.1772G>T
ENST00000680018.1:c.1443G>T ENSP00000505347.1:n.1443G>T
ENST00000680422.1:c.1643G>T
ENST00000680425.1:c.1165G>T ENSP00000506459.1:n.1165G>T
ENST00000680453.1:c.1455G>T
ENST00000680790.1:c.5743G>T ENSP00000505335.1:p.Val1915Leu
ENST00000681136.1:n.1982G>T
ENST00000681696.1:c.1681G>T ENSP00000505871.1:p.Val561Leu
ENST00000298910.11:c.5998G>T ENSP00000298910.7:p.Val2000Leu
ENST00000430804.5:c.3294G>T
ENST00000479187.5:n.2679G>T
NM_198578.3:c.5998G>T NP_940980.3:p.Val2000Leu
XM_005268629.2:c.5998G>T XP_005268686.1:p.Val2000Leu
XM_011537877.1:c.5998G>T XP_011536179.1:p.Val2000Leu
XM_011537878.1:c.5998G>T XP_011536180.1:p.Val2000Leu
XM_011537879.1:c.4795G>T XP_011536181.1:p.Val1599Leu
XM_005268629.4:c.5998G>T XP_005268686.1:p.Val2000Leu
XM_011537877.3:c.5998G>T XP_011536179.1:p.Val2000Leu
XM_017018787.1:c.2914G>T XP_016874276.1:p.Val972Leu
XM_017018788.2:c.2260G>T XP_016874277.1:p.Val754Leu
XM_024448833.1:c.4795G>T XP_024304601.1:p.Val1599Leu
NM_198578.4:c.5998G>T MANE Select NP_940980.4:p.Val2000Leu