Canonical Allele Identifier: CA6513891

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1730827
• ClinVar RCV Id: RCV002451836
• dbSNP Id: rs756260099
• ExAC: 12:40692945 C / A
• gnomAD v2: 12-40692945-C-A
• gnomAD v4: 12-40299143-C-A
• MyVariant Identifiers: chr12:g.40692945C>A (hg19) ; chr12:g.40299143C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40299143C>A , CM000674.2:g.40299143C>A	GRCh38
NC_000012.11:g.40692945C>A , CM000674.1:g.40692945C>A	GRCh37
NC_000012.10:g.38979212C>A	NCBI36
NG_011709.1:g.79133C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.3382C>A MANE Select	ENSP00000298910.7:p.Leu1128Met
ENST00000679360.1:c.*2291C>A	ENSP00000505368.1:n.*2291C>A
ENST00000680790.1:c.3127C>A	ENSP00000505335.1:p.Leu1043Met
ENST00000298910.11:c.3382C>A	ENSP00000298910.7:p.Leu1128Met
ENST00000343742.6:c.3382C>A	ENSP00000341930.2:p.Leu1128Met
ENST00000430804.5:c.426C>A
ENST00000479187.5:n.63C>A
NM_198578.3:c.3382C>A	NP_940980.3:p.Leu1128Met
XM_005268629.2:c.3382C>A	XP_005268686.1:p.Leu1128Met
XM_011537877.1:c.3382C>A	XP_011536179.1:p.Leu1128Met
XM_011537878.1:c.3382C>A	XP_011536180.1:p.Leu1128Met
XM_011537879.1:c.2179C>A	XP_011536181.1:p.Leu727Met
XM_011537880.1:c.3382C>A	XP_011536182.1:p.Leu1128Met
XM_011537881.1:c.3382C>A	XP_011536183.1:p.Leu1128Met
XM_011537882.1:c.3382C>A	XP_011536184.1:p.Leu1128Met
XM_005268629.4:c.3382C>A	XP_005268686.1:p.Leu1128Met
XM_011537877.3:c.3382C>A	XP_011536179.1:p.Leu1128Met
XM_011537881.3:c.3382C>A	XP_011536183.1:p.Leu1128Met
XM_011537882.3:c.3382C>A	XP_011536184.1:p.Leu1128Met
XM_017018786.2:c.3382C>A	XP_016874275.1:p.Leu1128Met
XM_017018787.1:c.298C>A	XP_016874276.1:p.Leu100Met
XM_017018789.2:c.3382C>A	XP_016874278.1:p.Leu1128Met
XM_024448833.1:c.2179C>A	XP_024304601.1:p.Leu727Met
XR_001748574.2:n.3624C>A
NM_198578.4:c.3382C>A MANE Select	NP_940980.4:p.Leu1128Met