Canonical Allele Identifier: CA479241628

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1754036
• ClinVar RCV Id: RCV002364247
• gnomAD v4: 12-40351679-C-G
• MyVariant Identifiers: chr12:g.40745481C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351679C>G , CM000674.2:g.40351679C>G	GRCh38
NC_000012.11:g.40745481C>G , CM000674.1:g.40745481C>G	GRCh37
NC_000012.10:g.39031748C>G	NCBI36
NG_011709.1:g.131669C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6522C>G MANE Select	ENSP00000298910.7:p.Thr2174=
ENST00000636518.1:c.319C>G
ENST00000679360.1:c.*5431C>G	ENSP00000505368.1:n.*5431C>G
ENST00000679532.1:c.2296C>G
ENST00000679683.1:c.312C>G
ENST00000680018.1:c.1967C>G	ENSP00000505347.1:n.1967C>G
ENST00000680422.1:c.2167C>G
ENST00000680425.1:c.1689C>G	ENSP00000506459.1:n.1689C>G
ENST00000680453.1:c.1979C>G
ENST00000680790.1:c.6267C>G	ENSP00000505335.1:p.Thr2089=
ENST00000681136.1:n.2506C>G
ENST00000681696.1:c.2205C>G	ENSP00000505871.1:p.Thr735=
ENST00000298910.11:c.6522C>G	ENSP00000298910.7:p.Thr2174=
ENST00000430804.5:c.3818C>G
ENST00000479187.5:n.3203C>G
NM_198578.3:c.6522C>G	NP_940980.3:p.Thr2174=
XM_005268629.2:c.6522C>G	XP_005268686.1:p.Thr2174=
XM_011537877.1:c.6522C>G	XP_011536179.1:p.Thr2174=
XM_011537878.1:c.6522C>G	XP_011536180.1:p.Thr2174=
XM_011537879.1:c.5319C>G	XP_011536181.1:p.Thr1773=
XM_005268629.4:c.6522C>G	XP_005268686.1:p.Thr2174=
XM_011537877.3:c.6522C>G	XP_011536179.1:p.Thr2174=
XM_017018787.1:c.3438C>G	XP_016874276.1:p.Thr1146=
XM_017018788.2:c.2784C>G	XP_016874277.1:p.Thr928=
XM_024448833.1:c.5319C>G	XP_024304601.1:p.Thr1773=
NM_198578.4:c.6522C>G MANE Select	NP_940980.4:p.Thr2174=