Canonical Allele Identifier: CA479247128
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40757210T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40363408T>G , CM000674.2:g.40363408T>G GRCh38
NC_000012.11:g.40757210T>G , CM000674.1:g.40757210T>G GRCh37
NC_000012.10:g.39043477T>G NCBI36
NG_011709.1:g.143398T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.7035T>G MANE Select ENSP00000298910.7:p.Ser2345=
ENST00000636518.1:c.832T>G
ENST00000679360.1:c.*5944T>G ENSP00000505368.1:n.*5944T>G
ENST00000679532.1:c.2809T>G
ENST00000679683.1:c.825T>G
ENST00000680018.1:c.2480T>G ENSP00000505347.1:n.2480T>G
ENST00000680422.1:c.4122T>G
ENST00000680425.1:c.2202T>G ENSP00000506459.1:n.2202T>G
ENST00000680453.1:c.2492T>G
ENST00000680790.1:c.6780T>G ENSP00000505335.1:p.Ser2260=
ENST00000681136.1:n.3019T>G
ENST00000681696.1:c.2718T>G ENSP00000505871.1:p.Ser906=
ENST00000681773.1:n.242T>G
ENST00000298910.11:c.7035T>G ENSP00000298910.7:p.Ser2345=
ENST00000430804.5:c.4331T>G
ENST00000479187.5:n.3716T>G
NM_198578.3:c.7035T>G NP_940980.3:p.Ser2345=
XM_005268629.2:c.7035T>G XP_005268686.1:p.Ser2345=
XM_011537877.1:c.7035T>G XP_011536179.1:p.Ser2345=
XM_011537879.1:c.5832T>G XP_011536181.1:p.Ser1944=
XR_944868.1:n.485-8581A>C
XM_005268629.4:c.7035T>G XP_005268686.1:p.Ser2345=
XM_011537877.3:c.7035T>G XP_011536179.1:p.Ser2345=
XM_017018787.1:c.3951T>G XP_016874276.1:p.Ser1317=
XM_017018788.2:c.3297T>G XP_016874277.1:p.Ser1099=
XM_024448833.1:c.5832T>G XP_024304601.1:p.Ser1944=
XR_944868.2:n.485-8581A>C
NM_198578.4:c.7035T>G MANE Select NP_940980.4:p.Ser2345=