Canonical Allele Identifier: CA384418012

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2567386
• ClinVar RCV Id: RCV003278475
• MyVariant Identifiers: chr12:g.40702932A>T (hg19) ; chr12:g.40309130A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40309130A>T , CM000674.2:g.40309130A>T	GRCh38
NC_000012.11:g.40702932A>T , CM000674.1:g.40702932A>T	GRCh37
NC_000012.10:g.38989199A>T	NCBI36
NG_011709.1:g.89120A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4214A>T MANE Select	ENSP00000298910.7:p.His1405Leu
ENST00000679360.1:c.*3123A>T	ENSP00000505368.1:n.*3123A>T
ENST00000680790.1:c.3959A>T	ENSP00000505335.1:p.His1320Leu
ENST00000298910.11:c.4214A>T	ENSP00000298910.7:p.His1405Leu
ENST00000430804.5:c.1510A>T
ENST00000479187.5:n.895A>T
NM_198578.3:c.4214A>T	NP_940980.3:p.His1405Leu
XM_005268629.2:c.4214A>T	XP_005268686.1:p.His1405Leu
XM_011537877.1:c.4214A>T	XP_011536179.1:p.His1405Leu
XM_011537878.1:c.4214A>T	XP_011536180.1:p.His1405Leu
XM_011537879.1:c.3011A>T	XP_011536181.1:p.His1004Leu
XM_011537880.1:c.4214A>T	XP_011536182.1:p.His1405Leu
XM_011537881.1:c.4214A>T	XP_011536183.1:p.His1405Leu
XM_005268629.4:c.4214A>T	XP_005268686.1:p.His1405Leu
XM_011537877.3:c.4214A>T	XP_011536179.1:p.His1405Leu
XM_011537881.3:c.4214A>T	XP_011536183.1:p.His1405Leu
XM_017018786.2:c.4214A>T	XP_016874275.1:p.His1405Leu
XM_017018787.1:c.1130A>T	XP_016874276.1:p.His377Leu
XM_017018788.2:c.476A>T	XP_016874277.1:p.His159Leu
XM_024448833.1:c.3011A>T	XP_024304601.1:p.His1004Leu
XR_001748574.2:n.4456A>T
NM_198578.4:c.4214A>T MANE Select	NP_940980.4:p.His1405Leu