Canonical Allele Identifier: CA235354046

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1187402
• ClinVar RCV Id: RCV001546833
• dbSNP Id: rs73102757
• gnomAD v2: 12-40702653-C-T
• gnomAD v3: 12-40308851-C-T
• gnomAD v4: 12-40308851-C-T
• MyVariant Identifiers: chr12:g.40702653C>T (hg19) ; chr12:g.40702653_40702654delinsTA (hg19) ; chr12:g.40308851C>T (hg38) ; chr12:g.40308851_40308852delinsTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40308851C>T , CM000674.2:g.40308851C>T	GRCh38
NC_000012.11:g.40702653C>T , CM000674.1:g.40702653C>T	GRCh37
NC_000012.10:g.38988920C>T	NCBI36
NG_011709.1:g.88841C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4189+155C>T MANE Select	ENSP00000298910.7:n.4189+155C>T
ENST00000679360.1:c.*3098+155C>T	ENSP00000505368.1:n.*3098+155C>T
ENST00000680790.1:c.3934+155C>T	ENSP00000505335.1:n.3934+155C>T
ENST00000298910.11:c.4189+155C>T	ENSP00000298910.7:n.4189+155C>T
ENST00000430804.5:c.1485+155C>T
ENST00000479187.5:n.870+155C>T
NM_198578.3:c.4189+155C>T	NP_940980.3:n.4189+155C>T
XM_005268629.2:c.4189+155C>T	XP_005268686.1:n.4189+155C>T
XM_011537877.1:c.4189+155C>T	XP_011536179.1:n.4189+155C>T
XM_011537878.1:c.4189+155C>T	XP_011536180.1:n.4189+155C>T
XM_011537879.1:c.2986+155C>T	XP_011536181.1:n.2986+155C>T
XM_011537880.1:c.4189+155C>T	XP_011536182.1:n.4189+155C>T
XM_011537881.1:c.4189+155C>T	XP_011536183.1:n.4189+155C>T
XM_005268629.4:c.4189+155C>T	XP_005268686.1:n.4189+155C>T
XM_011537877.3:c.4189+155C>T	XP_011536179.1:n.4189+155C>T
XM_011537881.3:c.4189+155C>T	XP_011536183.1:n.4189+155C>T
XM_017018786.2:c.4189+155C>T	XP_016874275.1:n.4189+155C>T
XM_017018787.1:c.1105+155C>T	XP_016874276.1:n.1105+155C>T
XM_017018788.2:c.451+155C>T	XP_016874277.1:n.451+155C>T
XM_024448833.1:c.2986+155C>T	XP_024304601.1:n.2986+155C>T
XR_001748574.2:n.4431+155C>T
NM_198578.4:c.4189+155C>T MANE Select	NP_940980.4:n.4189+155C>T