Canonical Allele Identifier: CA384413466

Gene: LRRK2

Linked Data

• dbSNP Id: rs1946780036
• COSMIC: COSM3460508 ; COSM3460509
• MyVariant Identifiers: chr12:g.40757307A>G (hg19) ; chr12:g.40363505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363505A>G , CM000674.2:g.40363505A>G	GRCh38
NC_000012.11:g.40757307A>G , CM000674.1:g.40757307A>G	GRCh37
NC_000012.10:g.39043574A>G	NCBI36
NG_011709.1:g.143495A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7132A>G MANE Select	ENSP00000298910.7:p.Lys2378Glu
ENST00000636518.1:c.929A>G
ENST00000679360.1:c.*6041A>G	ENSP00000505368.1:n.*6041A>G
ENST00000679532.1:c.2906A>G
ENST00000679683.1:c.922A>G
ENST00000680018.1:c.2577A>G	ENSP00000505347.1:n.2577A>G
ENST00000680422.1:c.4219A>G
ENST00000680425.1:c.2299A>G	ENSP00000506459.1:n.2299A>G
ENST00000680453.1:c.2589A>G
ENST00000680790.1:c.6877A>G	ENSP00000505335.1:p.Lys2293Glu
ENST00000681136.1:n.3116A>G
ENST00000681696.1:c.2815A>G	ENSP00000505871.1:p.Lys939Glu
ENST00000681773.1:n.339A>G
ENST00000298910.11:c.7132A>G	ENSP00000298910.7:p.Lys2378Glu
ENST00000430804.5:c.4428A>G
ENST00000479187.5:n.3813A>G
NM_198578.3:c.7132A>G	NP_940980.3:p.Lys2378Glu
XM_005268629.2:c.7132A>G	XP_005268686.1:p.Lys2378Glu
XM_011537877.1:c.7132A>G	XP_011536179.1:p.Lys2378Glu
XM_011537879.1:c.5929A>G	XP_011536181.1:p.Lys1977Glu
XR_944868.1:n.485-8678T>C
XM_005268629.4:c.7132A>G	XP_005268686.1:p.Lys2378Glu
XM_011537877.3:c.7132A>G	XP_011536179.1:p.Lys2378Glu
XM_017018787.1:c.4048A>G	XP_016874276.1:p.Lys1350Glu
XM_017018788.2:c.3394A>G	XP_016874277.1:p.Lys1132Glu
XM_024448833.1:c.5929A>G	XP_024304601.1:p.Lys1977Glu
XR_944868.2:n.485-8678T>C
NM_198578.4:c.7132A>G MANE Select	NP_940980.4:p.Lys2378Glu