Canonical Allele Identifier: CA343681

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 39235
• ClinVar RCV Id: RCV000032510
• dbSNP Id: rs79546190
• ExAC: 12:40757343 G / A
• gnomAD v2: 12-40757343-G-A
• gnomAD v3: 12-40363541-G-A
• gnomAD v4: 12-40363541-G-A
• MyVariant Identifiers: chr12:g.40757343G>A (hg19) ; chr12:g.40363541G>A (hg38)
• PubMed: PMID:20301387

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363541G>A , CM000674.2:g.40363541G>A	GRCh38
NC_000012.11:g.40757343G>A , CM000674.1:g.40757343G>A	GRCh37
NC_000012.10:g.39043610G>A	NCBI36
NG_011709.1:g.143531G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7168G>A MANE Select	ENSP00000298910.7:p.Val2390Met
ENST00000636518.1:c.965G>A
ENST00000679360.1:c.*6077G>A	ENSP00000505368.1:n.*6077G>A
ENST00000679532.1:c.2942G>A
ENST00000679683.1:c.958G>A
ENST00000680018.1:c.2613G>A	ENSP00000505347.1:n.2613G>A
ENST00000680422.1:c.4255G>A
ENST00000680425.1:c.2335G>A	ENSP00000506459.1:n.2335G>A
ENST00000680453.1:c.2625G>A
ENST00000680790.1:c.6913G>A	ENSP00000505335.1:p.Val2305Met
ENST00000681136.1:n.3152G>A
ENST00000681696.1:c.2851G>A	ENSP00000505871.1:p.Val951Met
ENST00000681773.1:n.375G>A
ENST00000298910.11:c.7168G>A	ENSP00000298910.7:p.Val2390Met
ENST00000430804.5:c.4464G>A
ENST00000479187.5:n.3849G>A
NM_198578.3:c.7168G>A	NP_940980.3:p.Val2390Met
XM_005268629.2:c.7168G>A	XP_005268686.1:p.Val2390Met
XM_011537877.1:c.7168G>A	XP_011536179.1:p.Val2390Met
XM_011537879.1:c.5965G>A	XP_011536181.1:p.Val1989Met
XR_944868.1:n.485-8714C>T
XM_005268629.4:c.7168G>A	XP_005268686.1:p.Val2390Met
XM_011537877.3:c.7168G>A	XP_011536179.1:p.Val2390Met
XM_017018787.1:c.4084G>A	XP_016874276.1:p.Val1362Met
XM_017018788.2:c.3430G>A	XP_016874277.1:p.Val1144Met
XM_024448833.1:c.5965G>A	XP_024304601.1:p.Val1989Met
XR_944868.2:n.485-8714C>T
NM_198578.4:c.7168G>A MANE Select	NP_940980.4:p.Val2390Met