Canonical Allele Identifier: CA6514692

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1753564
• ClinVar RCV Id: RCV002361807
• dbSNP Id: rs767122381
• ExAC: 12:40745403 A / G
• gnomAD v2: 12-40745403-A-G
• gnomAD v3: 12-40351601-A-G
• gnomAD v4: 12-40351601-A-G
• MyVariant Identifiers: chr12:g.40745403A>G (hg19) ; chr12:g.40351601A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351601A>G , CM000674.2:g.40351601A>G	GRCh38
NC_000012.11:g.40745403A>G , CM000674.1:g.40745403A>G	GRCh37
NC_000012.10:g.39031670A>G	NCBI36
NG_011709.1:g.131591A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6444A>G MANE Select	ENSP00000298910.7:p.Lys2148=
ENST00000636518.1:c.241A>G
ENST00000679360.1:c.*5353A>G	ENSP00000505368.1:n.*5353A>G
ENST00000679532.1:c.2218A>G
ENST00000679683.1:c.234A>G
ENST00000680018.1:c.1889A>G	ENSP00000505347.1:n.1889A>G
ENST00000680422.1:c.2089A>G
ENST00000680425.1:c.1611A>G	ENSP00000506459.1:n.1611A>G
ENST00000680453.1:c.1901A>G
ENST00000680790.1:c.6189A>G	ENSP00000505335.1:p.Lys2063=
ENST00000681136.1:n.2428A>G
ENST00000681696.1:c.2127A>G	ENSP00000505871.1:p.Lys709=
ENST00000298910.11:c.6444A>G	ENSP00000298910.7:p.Lys2148=
ENST00000430804.5:c.3740A>G
ENST00000479187.5:n.3125A>G
NM_198578.3:c.6444A>G	NP_940980.3:p.Lys2148=
XM_005268629.2:c.6444A>G	XP_005268686.1:p.Lys2148=
XM_011537877.1:c.6444A>G	XP_011536179.1:p.Lys2148=
XM_011537878.1:c.6444A>G	XP_011536180.1:p.Lys2148=
XM_011537879.1:c.5241A>G	XP_011536181.1:p.Lys1747=
XM_005268629.4:c.6444A>G	XP_005268686.1:p.Lys2148=
XM_011537877.3:c.6444A>G	XP_011536179.1:p.Lys2148=
XM_017018787.1:c.3360A>G	XP_016874276.1:p.Lys1120=
XM_017018788.2:c.2706A>G	XP_016874277.1:p.Lys902=
XM_024448833.1:c.5241A>G	XP_024304601.1:p.Lys1747=
NM_198578.4:c.6444A>G MANE Select	NP_940980.4:p.Lys2148=