Canonical Allele Identifier: CA479248961
Community Standard Title: NM_198578.4(LRRK2):c.7308C>G (p.Leu2436=)
Gene: LRRK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40364968C>G , CM000674.2:g.40364968C>G GRCh38
NC_000012.11:g.40758770C>G , CM000674.1:g.40758770C>G GRCh37
NC_000012.10:g.39045037C>G NCBI36
NG_011709.1:g.144958C>G

Transcript Alleles

HGVS Amino-acid Change
NM_198578.4:c.7308C>G MANE Select NP_940980.4:p.Leu2436=
ENST00000298910.12:c.7308C>G MANE Select ENSP00000298910.7:p.Leu2436=
NM_198578.3:c.7308C>G NP_940980.3:p.Leu2436=
ENST00000298910.11:c.7308C>G ENSP00000298910.7:p.Leu2436=
ENST00000430804.5:c.4604C>G
ENST00000479187.5:n.3989C>G
ENST00000636518.1:c.1105C>G
ENST00000679360.1:c.*6217C>G ENSP00000505368.1:n.*6217C>G
ENST00000679532.1:c.3082C>G
ENST00000679683.1:c.1098C>G
ENST00000680018.1:c.2753C>G ENSP00000505347.1:n.2753C>G
ENST00000680422.1:c.4395C>G
ENST00000680425.1:c.2475C>G ENSP00000506459.1:n.2475C>G
ENST00000680453.1:c.2765C>G
ENST00000680790.1:c.7053C>G ENSP00000505335.1:p.Leu2351=
ENST00000681136.1:n.3292C>G
ENST00000681696.1:c.2991C>G ENSP00000505871.1:p.Leu997=
ENST00000681773.1:n.515C>G
XM_005268629.2:c.7308C>G XP_005268686.1:p.Leu2436=
XM_005268629.4:c.7308C>G XP_005268686.1:p.Leu2436=
XM_011537877.1:c.7308C>G XP_011536179.1:p.Leu2436=
XM_011537877.3:c.7308C>G XP_011536179.1:p.Leu2436=
XM_011537879.1:c.6105C>G XP_011536181.1:p.Leu2035=
XM_017018787.1:c.4224C>G XP_016874276.1:p.Leu1408=
XM_017018788.2:c.3570C>G XP_016874277.1:p.Leu1190=
XM_024448833.1:c.6105C>G XP_024304601.1:p.Leu2035=
XR_944868.1:n.485-10141G>C
XR_944868.2:n.485-10141G>C