Canonical Allele Identifier: CA2030994810
Community Standard Title: NM_198578.4(LRRK2):c.4883G= (p.Arg1628=)
Gene: LRRK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40320043G= , CM000674.2:g.40320043G= GRCh38
NC_000012.11:g.40713845G= , CM000674.1:g.40713845G= GRCh37
NC_000012.10:g.39000112G= NCBI36
NG_011709.1:g.100033G=

Transcript Alleles

HGVS Amino-acid Change
NM_198578.4:c.4883G= MANE Select NP_940980.4:p.Arg1628=
ENST00000298910.12:c.4883G= MANE Select ENSP00000298910.7:p.Arg1628=
NM_198578.3:c.4883G= NP_940980.3:p.Arg1628=
ENST00000298910.11:c.4883G= ENSP00000298910.7:p.Arg1628=
ENST00000430804.5:c.2179G=
ENST00000479187.5:n.1564G=
ENST00000481256.1:n.542G=
ENST00000679360.1:c.*3792G= ENSP00000505368.1:n.*3792G=
ENST00000679532.1:c.657G=
ENST00000680018.1:c.328G= ENSP00000505347.1:n.328G=
ENST00000680422.1:c.528G=
ENST00000680425.1:c.183-991G= ENSP00000506459.1:n.183-991G=
ENST00000680453.1:c.473-991G=
ENST00000680790.1:c.4628G= ENSP00000505335.1:p.Arg1543=
ENST00000681136.1:n.867G=
ENST00000681696.1:c.566G= ENSP00000505871.1:p.Arg189=
XM_005268629.2:c.4883G= XP_005268686.1:p.Arg1628=
XM_005268629.4:c.4883G= XP_005268686.1:p.Arg1628=
XM_011537877.1:c.4883G= XP_011536179.1:p.Arg1628=
XM_011537877.3:c.4883G= XP_011536179.1:p.Arg1628=
XM_011537878.1:c.4883G= XP_011536180.1:p.Arg1628=
XM_011537879.1:c.3680G= XP_011536181.1:p.Arg1227=
XM_011537881.1:c.4828-991G= XP_011536183.1:n.4828-991G=
XM_011537881.3:c.4828-991G= XP_011536183.1:n.4828-991G=
XM_017018787.1:c.1799G= XP_016874276.1:p.Arg600=
XM_017018788.2:c.1145G= XP_016874277.1:p.Arg382=
XM_024448833.1:c.3680G= XP_024304601.1:p.Arg1227=
XR_001748574.2:n.5251G=