Canonical Allele Identifier: CA479248524
Community Standard Title: NM_198578.4(LRRK2):c.7194A>G (p.Val2398=)
Gene: LRRK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40364854A>G , CM000674.2:g.40364854A>G GRCh38
NC_000012.11:g.40758656A>G , CM000674.1:g.40758656A>G GRCh37
NC_000012.10:g.39044923A>G NCBI36
NG_011709.1:g.144844A>G

Transcript Alleles

HGVS Amino-acid Change
NM_198578.4:c.7194A>G MANE Select NP_940980.4:p.Val2398=
ENST00000298910.12:c.7194A>G MANE Select ENSP00000298910.7:p.Val2398=
NM_198578.3:c.7194A>G NP_940980.3:p.Val2398=
ENST00000298910.11:c.7194A>G ENSP00000298910.7:p.Val2398=
ENST00000430804.5:c.4490A>G
ENST00000479187.5:n.3875A>G
ENST00000636518.1:c.991A>G
ENST00000679360.1:c.*6103A>G ENSP00000505368.1:n.*6103A>G
ENST00000679532.1:c.2968A>G
ENST00000679683.1:c.984A>G
ENST00000680018.1:c.2639A>G ENSP00000505347.1:n.2639A>G
ENST00000680422.1:c.4281A>G
ENST00000680425.1:c.2361A>G ENSP00000506459.1:n.2361A>G
ENST00000680453.1:c.2651A>G
ENST00000680790.1:c.6939A>G ENSP00000505335.1:p.Val2313=
ENST00000681136.1:n.3178A>G
ENST00000681696.1:c.2877A>G ENSP00000505871.1:p.Val959=
ENST00000681773.1:n.401A>G
XM_005268629.2:c.7194A>G XP_005268686.1:p.Val2398=
XM_005268629.4:c.7194A>G XP_005268686.1:p.Val2398=
XM_011537877.1:c.7194A>G XP_011536179.1:p.Val2398=
XM_011537877.3:c.7194A>G XP_011536179.1:p.Val2398=
XM_011537879.1:c.5991A>G XP_011536181.1:p.Val1997=
XM_017018787.1:c.4110A>G XP_016874276.1:p.Val1370=
XM_017018788.2:c.3456A>G XP_016874277.1:p.Val1152=
XM_024448833.1:c.5991A>G XP_024304601.1:p.Val1997=
XR_944868.1:n.485-10027T>C
XR_944868.2:n.485-10027T>C