Canonical Allele Identifier: CA479247162
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40757219T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40363417T>A , CM000674.2:g.40363417T>A GRCh38
NC_000012.11:g.40757219T>A , CM000674.1:g.40757219T>A GRCh37
NC_000012.10:g.39043486T>A NCBI36
NG_011709.1:g.143407T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.7044T>A MANE Select ENSP00000298910.7:p.Ala2348=
ENST00000636518.1:c.841T>A
ENST00000679360.1:c.*5953T>A ENSP00000505368.1:n.*5953T>A
ENST00000679532.1:c.2818T>A
ENST00000679683.1:c.834T>A
ENST00000680018.1:c.2489T>A ENSP00000505347.1:n.2489T>A
ENST00000680422.1:c.4131T>A
ENST00000680425.1:c.2211T>A ENSP00000506459.1:n.2211T>A
ENST00000680453.1:c.2501T>A
ENST00000680790.1:c.6789T>A ENSP00000505335.1:p.Ala2263=
ENST00000681136.1:n.3028T>A
ENST00000681696.1:c.2727T>A ENSP00000505871.1:p.Ala909=
ENST00000681773.1:n.251T>A
ENST00000298910.11:c.7044T>A ENSP00000298910.7:p.Ala2348=
ENST00000430804.5:c.4340T>A
ENST00000479187.5:n.3725T>A
NM_198578.3:c.7044T>A NP_940980.3:p.Ala2348=
XM_005268629.2:c.7044T>A XP_005268686.1:p.Ala2348=
XM_011537877.1:c.7044T>A XP_011536179.1:p.Ala2348=
XM_011537879.1:c.5841T>A XP_011536181.1:p.Ala1947=
XR_944868.1:n.485-8590A>T
XM_005268629.4:c.7044T>A XP_005268686.1:p.Ala2348=
XM_011537877.3:c.7044T>A XP_011536179.1:p.Ala2348=
XM_017018787.1:c.3960T>A XP_016874276.1:p.Ala1320=
XM_017018788.2:c.3306T>A XP_016874277.1:p.Ala1102=
XM_024448833.1:c.5841T>A XP_024304601.1:p.Ala1947=
XR_944868.2:n.485-8590A>T
NM_198578.4:c.7044T>A MANE Select NP_940980.4:p.Ala2348=