Canonical Allele Identifier: CA384413243

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757245T>A (hg19) ; chr12:g.40363443T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363443T>A , CM000674.2:g.40363443T>A	GRCh38
NC_000012.11:g.40757245T>A , CM000674.1:g.40757245T>A	GRCh37
NC_000012.10:g.39043512T>A	NCBI36
NG_011709.1:g.143433T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7070T>A MANE Select	ENSP00000298910.7:p.Val2357Glu
ENST00000636518.1:c.867T>A
ENST00000679360.1:c.*5979T>A	ENSP00000505368.1:n.*5979T>A
ENST00000679532.1:c.2844T>A
ENST00000679683.1:c.860T>A
ENST00000680018.1:c.2515T>A	ENSP00000505347.1:n.2515T>A
ENST00000680422.1:c.4157T>A
ENST00000680425.1:c.2237T>A	ENSP00000506459.1:n.2237T>A
ENST00000680453.1:c.2527T>A
ENST00000680790.1:c.6815T>A	ENSP00000505335.1:p.Val2272Glu
ENST00000681136.1:n.3054T>A
ENST00000681696.1:c.2753T>A	ENSP00000505871.1:p.Val918Glu
ENST00000681773.1:n.277T>A
ENST00000298910.11:c.7070T>A	ENSP00000298910.7:p.Val2357Glu
ENST00000430804.5:c.4366T>A
ENST00000479187.5:n.3751T>A
NM_198578.3:c.7070T>A	NP_940980.3:p.Val2357Glu
XM_005268629.2:c.7070T>A	XP_005268686.1:p.Val2357Glu
XM_011537877.1:c.7070T>A	XP_011536179.1:p.Val2357Glu
XM_011537879.1:c.5867T>A	XP_011536181.1:p.Val1956Glu
XR_944868.1:n.485-8616A>T
XM_005268629.4:c.7070T>A	XP_005268686.1:p.Val2357Glu
XM_011537877.3:c.7070T>A	XP_011536179.1:p.Val2357Glu
XM_017018787.1:c.3986T>A	XP_016874276.1:p.Val1329Glu
XM_017018788.2:c.3332T>A	XP_016874277.1:p.Val1111Glu
XM_024448833.1:c.5867T>A	XP_024304601.1:p.Val1956Glu
XR_944868.2:n.485-8616A>T
NM_198578.4:c.7070T>A MANE Select	NP_940980.4:p.Val2357Glu