Canonical Allele Identifier: CA384418068

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40309156-T-A
• MyVariant Identifiers: chr12:g.40702958T>A (hg19) ; chr12:g.40309156T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40309156T>A , CM000674.2:g.40309156T>A	GRCh38
NC_000012.11:g.40702958T>A , CM000674.1:g.40702958T>A	GRCh37
NC_000012.10:g.38989225T>A	NCBI36
NG_011709.1:g.89146T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4240T>A MANE Select	ENSP00000298910.7:p.Leu1414Met
ENST00000679360.1:c.*3149T>A	ENSP00000505368.1:n.*3149T>A
ENST00000680790.1:c.3985T>A	ENSP00000505335.1:p.Leu1329Met
ENST00000298910.11:c.4240T>A	ENSP00000298910.7:p.Leu1414Met
ENST00000430804.5:c.1536T>A
ENST00000479187.5:n.921T>A
NM_198578.3:c.4240T>A	NP_940980.3:p.Leu1414Met
XM_005268629.2:c.4240T>A	XP_005268686.1:p.Leu1414Met
XM_011537877.1:c.4240T>A	XP_011536179.1:p.Leu1414Met
XM_011537878.1:c.4240T>A	XP_011536180.1:p.Leu1414Met
XM_011537879.1:c.3037T>A	XP_011536181.1:p.Leu1013Met
XM_011537880.1:c.4240T>A	XP_011536182.1:p.Leu1414Met
XM_011537881.1:c.4240T>A	XP_011536183.1:p.Leu1414Met
XM_005268629.4:c.4240T>A	XP_005268686.1:p.Leu1414Met
XM_011537877.3:c.4240T>A	XP_011536179.1:p.Leu1414Met
XM_011537881.3:c.4240T>A	XP_011536183.1:p.Leu1414Met
XM_017018786.2:c.4240T>A	XP_016874275.1:p.Leu1414Met
XM_017018787.1:c.1156T>A	XP_016874276.1:p.Leu386Met
XM_017018788.2:c.502T>A	XP_016874277.1:p.Leu168Met
XM_024448833.1:c.3037T>A	XP_024304601.1:p.Leu1013Met
XR_001748574.2:n.4482T>A
NM_198578.4:c.4240T>A MANE Select	NP_940980.4:p.Leu1414Met