Canonical Allele Identifier: CA479247501
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40757306T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40363504T>C , CM000674.2:g.40363504T>C GRCh38
NC_000012.11:g.40757306T>C , CM000674.1:g.40757306T>C GRCh37
NC_000012.10:g.39043573T>C NCBI36
NG_011709.1:g.143494T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.7131T>C MANE Select ENSP00000298910.7:p.Asp2377=
ENST00000636518.1:c.928T>C
ENST00000679360.1:c.*6040T>C ENSP00000505368.1:n.*6040T>C
ENST00000679532.1:c.2905T>C
ENST00000679683.1:c.921T>C
ENST00000680018.1:c.2576T>C ENSP00000505347.1:n.2576T>C
ENST00000680422.1:c.4218T>C
ENST00000680425.1:c.2298T>C ENSP00000506459.1:n.2298T>C
ENST00000680453.1:c.2588T>C
ENST00000680790.1:c.6876T>C ENSP00000505335.1:p.Asp2292=
ENST00000681136.1:n.3115T>C
ENST00000681696.1:c.2814T>C ENSP00000505871.1:p.Asp938=
ENST00000681773.1:n.338T>C
ENST00000298910.11:c.7131T>C ENSP00000298910.7:p.Asp2377=
ENST00000430804.5:c.4427T>C
ENST00000479187.5:n.3812T>C
NM_198578.3:c.7131T>C NP_940980.3:p.Asp2377=
XM_005268629.2:c.7131T>C XP_005268686.1:p.Asp2377=
XM_011537877.1:c.7131T>C XP_011536179.1:p.Asp2377=
XM_011537879.1:c.5928T>C XP_011536181.1:p.Asp1976=
XR_944868.1:n.485-8677A>G
XM_005268629.4:c.7131T>C XP_005268686.1:p.Asp2377=
XM_011537877.3:c.7131T>C XP_011536179.1:p.Asp2377=
XM_017018787.1:c.4047T>C XP_016874276.1:p.Asp1349=
XM_017018788.2:c.3393T>C XP_016874277.1:p.Asp1131=
XM_024448833.1:c.5928T>C XP_024304601.1:p.Asp1976=
XR_944868.2:n.485-8677A>G
NM_198578.4:c.7131T>C MANE Select NP_940980.4:p.Asp2377=