Canonical Allele Identifier: CA384418110

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1739141
• ClinVar RCV Id: RCV002329916
• MyVariant Identifiers: chr12:g.40702977A>G (hg19) ; chr12:g.40309175A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40309175A>G , CM000674.2:g.40309175A>G	GRCh38
NC_000012.11:g.40702977A>G , CM000674.1:g.40702977A>G	GRCh37
NC_000012.10:g.38989244A>G	NCBI36
NG_011709.1:g.89165A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4259A>G MANE Select	ENSP00000298910.7:p.Asp1420Gly
ENST00000679360.1:c.*3168A>G	ENSP00000505368.1:n.*3168A>G
ENST00000680790.1:c.4004A>G	ENSP00000505335.1:p.Asp1335Gly
ENST00000298910.11:c.4259A>G	ENSP00000298910.7:p.Asp1420Gly
ENST00000430804.5:c.1555A>G
ENST00000479187.5:n.940A>G
NM_198578.3:c.4259A>G	NP_940980.3:p.Asp1420Gly
XM_005268629.2:c.4259A>G	XP_005268686.1:p.Asp1420Gly
XM_011537877.1:c.4259A>G	XP_011536179.1:p.Asp1420Gly
XM_011537878.1:c.4259A>G	XP_011536180.1:p.Asp1420Gly
XM_011537879.1:c.3056A>G	XP_011536181.1:p.Asp1019Gly
XM_011537880.1:c.4259A>G	XP_011536182.1:p.Asp1420Gly
XM_011537881.1:c.4259A>G	XP_011536183.1:p.Asp1420Gly
XM_005268629.4:c.4259A>G	XP_005268686.1:p.Asp1420Gly
XM_011537877.3:c.4259A>G	XP_011536179.1:p.Asp1420Gly
XM_011537881.3:c.4259A>G	XP_011536183.1:p.Asp1420Gly
XM_017018786.2:c.4259A>G	XP_016874275.1:p.Asp1420Gly
XM_017018787.1:c.1175A>G	XP_016874276.1:p.Asp392Gly
XM_017018788.2:c.521A>G	XP_016874277.1:p.Asp174Gly
XM_024448833.1:c.3056A>G	XP_024304601.1:p.Asp1019Gly
XR_001748574.2:n.4501A>G
NM_198578.4:c.4259A>G MANE Select	NP_940980.4:p.Asp1420Gly