Canonical Allele Identifier: CA479247217
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40757231C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40363429C>G , CM000674.2:g.40363429C>G GRCh38
NC_000012.11:g.40757231C>G , CM000674.1:g.40757231C>G GRCh37
NC_000012.10:g.39043498C>G NCBI36
NG_011709.1:g.143419C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298910.12:c.7056C>G MANE Select ENSP00000298910.7:p.Ser2352=
ENST00000636518.1:c.853C>G
ENST00000679360.1:c.*5965C>G ENSP00000505368.1:n.*5965C>G
ENST00000679532.1:c.2830C>G
ENST00000679683.1:c.846C>G
ENST00000680018.1:c.2501C>G ENSP00000505347.1:n.2501C>G
ENST00000680422.1:c.4143C>G
ENST00000680425.1:c.2223C>G ENSP00000506459.1:n.2223C>G
ENST00000680453.1:c.2513C>G
ENST00000680790.1:c.6801C>G ENSP00000505335.1:p.Ser2267=
ENST00000681136.1:n.3040C>G
ENST00000681696.1:c.2739C>G ENSP00000505871.1:p.Ser913=
ENST00000681773.1:n.263C>G
ENST00000298910.11:c.7056C>G ENSP00000298910.7:p.Ser2352=
ENST00000430804.5:c.4352C>G
ENST00000479187.5:n.3737C>G
NM_198578.3:c.7056C>G NP_940980.3:p.Ser2352=
XM_005268629.2:c.7056C>G XP_005268686.1:p.Ser2352=
XM_011537877.1:c.7056C>G XP_011536179.1:p.Ser2352=
XM_011537879.1:c.5853C>G XP_011536181.1:p.Ser1951=
XR_944868.1:n.485-8602G>C
XM_005268629.4:c.7056C>G XP_005268686.1:p.Ser2352=
XM_011537877.3:c.7056C>G XP_011536179.1:p.Ser2352=
XM_017018787.1:c.3972C>G XP_016874276.1:p.Ser1324=
XM_017018788.2:c.3318C>G XP_016874277.1:p.Ser1106=
XM_024448833.1:c.5853C>G XP_024304601.1:p.Ser1951=
XR_944868.2:n.485-8602G>C
NM_198578.4:c.7056C>G MANE Select NP_940980.4:p.Ser2352=