Canonical Allele Identifier: CA384413531

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757323T>A (hg19) ; chr12:g.40363521T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363521T>A , CM000674.2:g.40363521T>A	GRCh38
NC_000012.11:g.40757323T>A , CM000674.1:g.40757323T>A	GRCh37
NC_000012.10:g.39043590T>A	NCBI36
NG_011709.1:g.143511T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7148T>A MANE Select	ENSP00000298910.7:p.Leu2383His
ENST00000636518.1:c.945T>A
ENST00000679360.1:c.*6057T>A	ENSP00000505368.1:n.*6057T>A
ENST00000679532.1:c.2922T>A
ENST00000679683.1:c.938T>A
ENST00000680018.1:c.2593T>A	ENSP00000505347.1:n.2593T>A
ENST00000680422.1:c.4235T>A
ENST00000680425.1:c.2315T>A	ENSP00000506459.1:n.2315T>A
ENST00000680453.1:c.2605T>A
ENST00000680790.1:c.6893T>A	ENSP00000505335.1:p.Leu2298His
ENST00000681136.1:n.3132T>A
ENST00000681696.1:c.2831T>A	ENSP00000505871.1:p.Leu944His
ENST00000681773.1:n.355T>A
ENST00000298910.11:c.7148T>A	ENSP00000298910.7:p.Leu2383His
ENST00000430804.5:c.4444T>A
ENST00000479187.5:n.3829T>A
NM_198578.3:c.7148T>A	NP_940980.3:p.Leu2383His
XM_005268629.2:c.7148T>A	XP_005268686.1:p.Leu2383His
XM_011537877.1:c.7148T>A	XP_011536179.1:p.Leu2383His
XM_011537879.1:c.5945T>A	XP_011536181.1:p.Leu1982His
XR_944868.1:n.485-8694A>T
XM_005268629.4:c.7148T>A	XP_005268686.1:p.Leu2383His
XM_011537877.3:c.7148T>A	XP_011536179.1:p.Leu2383His
XM_017018787.1:c.4064T>A	XP_016874276.1:p.Leu1355His
XM_017018788.2:c.3410T>A	XP_016874277.1:p.Leu1137His
XM_024448833.1:c.5945T>A	XP_024304601.1:p.Leu1982His
XR_944868.2:n.485-8694A>T
NM_198578.4:c.7148T>A MANE Select	NP_940980.4:p.Leu2383His