Canonical Allele Identifier: CA479247433
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40757288T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40363486T>A , CM000674.2:g.40363486T>A GRCh38
NC_000012.11:g.40757288T>A , CM000674.1:g.40757288T>A GRCh37
NC_000012.10:g.39043555T>A NCBI36
NG_011709.1:g.143476T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.7113T>A MANE Select ENSP00000298910.7:p.Pro2371=
ENST00000636518.1:c.910T>A
ENST00000679360.1:c.*6022T>A ENSP00000505368.1:n.*6022T>A
ENST00000679532.1:c.2887T>A
ENST00000679683.1:c.903T>A
ENST00000680018.1:c.2558T>A ENSP00000505347.1:n.2558T>A
ENST00000680422.1:c.4200T>A
ENST00000680425.1:c.2280T>A ENSP00000506459.1:n.2280T>A
ENST00000680453.1:c.2570T>A
ENST00000680790.1:c.6858T>A ENSP00000505335.1:p.Pro2286=
ENST00000681136.1:n.3097T>A
ENST00000681696.1:c.2796T>A ENSP00000505871.1:p.Pro932=
ENST00000681773.1:n.320T>A
ENST00000298910.11:c.7113T>A ENSP00000298910.7:p.Pro2371=
ENST00000430804.5:c.4409T>A
ENST00000479187.5:n.3794T>A
NM_198578.3:c.7113T>A NP_940980.3:p.Pro2371=
XM_005268629.2:c.7113T>A XP_005268686.1:p.Pro2371=
XM_011537877.1:c.7113T>A XP_011536179.1:p.Pro2371=
XM_011537879.1:c.5910T>A XP_011536181.1:p.Pro1970=
XR_944868.1:n.485-8659A>T
XM_005268629.4:c.7113T>A XP_005268686.1:p.Pro2371=
XM_011537877.3:c.7113T>A XP_011536179.1:p.Pro2371=
XM_017018787.1:c.4029T>A XP_016874276.1:p.Pro1343=
XM_017018788.2:c.3375T>A XP_016874277.1:p.Pro1125=
XM_024448833.1:c.5910T>A XP_024304601.1:p.Pro1970=
XR_944868.2:n.485-8659A>T
NM_198578.4:c.7113T>A MANE Select NP_940980.4:p.Pro2371=