Canonical Allele Identifier: CA6513908

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2624902
• ClinVar RCV Id: RCV003387123
• dbSNP Id: rs140114815
• ExAC: 12:40693058 T / C
• gnomAD v2: 12-40693058-T-C
• gnomAD v3: 12-40299256-T-C
• gnomAD v4: 12-40299256-T-C
• MyVariant Identifiers: chr12:g.40693058T>C (hg19) ; chr12:g.40299256T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40299256T>C , CM000674.2:g.40299256T>C	GRCh38
NC_000012.11:g.40693058T>C , CM000674.1:g.40693058T>C	GRCh37
NC_000012.10:g.38979325T>C	NCBI36
NG_011709.1:g.79246T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.3495T>C MANE Select	ENSP00000298910.7:p.Leu1165=
ENST00000679360.1:c.*2404T>C	ENSP00000505368.1:n.*2404T>C
ENST00000680790.1:c.3240T>C	ENSP00000505335.1:p.Leu1080=
ENST00000298910.11:c.3495T>C	ENSP00000298910.7:p.Leu1165=
ENST00000343742.6:c.3495T>C	ENSP00000341930.2:p.Leu1165=
ENST00000430804.5:c.539T>C
ENST00000479187.5:n.176T>C
NM_198578.3:c.3495T>C	NP_940980.3:p.Leu1165=
XM_005268629.2:c.3495T>C	XP_005268686.1:p.Leu1165=
XM_011537877.1:c.3495T>C	XP_011536179.1:p.Leu1165=
XM_011537878.1:c.3495T>C	XP_011536180.1:p.Leu1165=
XM_011537879.1:c.2292T>C	XP_011536181.1:p.Leu764=
XM_011537880.1:c.3495T>C	XP_011536182.1:p.Leu1165=
XM_011537881.1:c.3495T>C	XP_011536183.1:p.Leu1165=
XM_011537882.1:c.3495T>C	XP_011536184.1:p.Leu1165=
XM_005268629.4:c.3495T>C	XP_005268686.1:p.Leu1165=
XM_011537877.3:c.3495T>C	XP_011536179.1:p.Leu1165=
XM_011537881.3:c.3495T>C	XP_011536183.1:p.Leu1165=
XM_011537882.3:c.3495T>C	XP_011536184.1:p.Leu1165=
XM_017018786.2:c.3495T>C	XP_016874275.1:p.Leu1165=
XM_017018787.1:c.411T>C	XP_016874276.1:p.Leu137=
XM_017018789.2:c.3495T>C	XP_016874278.1:p.Leu1165=
XM_024448833.1:c.2292T>C	XP_024304601.1:p.Leu764=
XR_001748574.2:n.3737T>C
NM_198578.4:c.3495T>C MANE Select	NP_940980.4:p.Leu1165=