Canonical Allele Identifier: CA384415270

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40692292A>C (hg19) ; chr12:g.40298490A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40298490A>C , CM000674.2:g.40298490A>C	GRCh38
NC_000012.11:g.40692292A>C , CM000674.1:g.40692292A>C	GRCh37
NC_000012.10:g.38978559A>C	NCBI36
NG_011709.1:g.78480A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.3344A>C MANE Select	ENSP00000298910.7:p.Glu1115Ala
ENST00000679360.1:c.*2253A>C	ENSP00000505368.1:n.*2253A>C
ENST00000680790.1:c.3089A>C	ENSP00000505335.1:p.Glu1030Ala
ENST00000298910.11:c.3344A>C	ENSP00000298910.7:p.Glu1115Ala
ENST00000343742.6:c.3344A>C	ENSP00000341930.2:p.Glu1115Ala
ENST00000430804.5:c.388A>C
ENST00000479187.5:n.25A>C
NM_198578.3:c.3344A>C	NP_940980.3:p.Glu1115Ala
XM_005268629.2:c.3344A>C	XP_005268686.1:p.Glu1115Ala
XM_011537877.1:c.3344A>C	XP_011536179.1:p.Glu1115Ala
XM_011537878.1:c.3344A>C	XP_011536180.1:p.Glu1115Ala
XM_011537879.1:c.2141A>C	XP_011536181.1:p.Glu714Ala
XM_011537880.1:c.3344A>C	XP_011536182.1:p.Glu1115Ala
XM_011537881.1:c.3344A>C	XP_011536183.1:p.Glu1115Ala
XM_011537882.1:c.3344A>C	XP_011536184.1:p.Glu1115Ala
XM_005268629.4:c.3344A>C	XP_005268686.1:p.Glu1115Ala
XM_011537877.3:c.3344A>C	XP_011536179.1:p.Glu1115Ala
XM_011537881.3:c.3344A>C	XP_011536183.1:p.Glu1115Ala
XM_011537882.3:c.3344A>C	XP_011536184.1:p.Glu1115Ala
XM_017018786.2:c.3344A>C	XP_016874275.1:p.Glu1115Ala
XM_017018787.1:c.260A>C	XP_016874276.1:p.Glu87Ala
XM_017018789.2:c.3344A>C	XP_016874278.1:p.Glu1115Ala
XM_024448833.1:c.2141A>C	XP_024304601.1:p.Glu714Ala
XR_001748574.2:n.3586A>C
NM_198578.4:c.3344A>C MANE Select	NP_940980.4:p.Glu1115Ala