Canonical Allele Identifier: CA479269695

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2489610
• ClinVar RCV Id: RCV003219943
• dbSNP Id: rs1323591086
• gnomAD v2: 12-40714839-G-A
• gnomAD v4: 12-40321037-G-A
• MyVariant Identifiers: chr12:g.40714839G>A (hg19) ; chr12:g.40321037G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40321037G>A , CM000674.2:g.40321037G>A	GRCh38
NC_000012.11:g.40714839G>A , CM000674.1:g.40714839G>A	GRCh37
NC_000012.10:g.39001106G>A	NCBI36
NG_011709.1:g.101027G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5019G>A MANE Select	ENSP00000298910.7:p.Leu1673=
ENST00000679360.1:c.*3928G>A	ENSP00000505368.1:n.*3928G>A
ENST00000679532.1:c.793G>A
ENST00000680018.1:c.464G>A	ENSP00000505347.1:n.464G>A
ENST00000680422.1:c.664G>A
ENST00000680425.1:c.186G>A	ENSP00000506459.1:n.186G>A
ENST00000680453.1:c.476G>A
ENST00000680790.1:c.4764G>A	ENSP00000505335.1:p.Leu1588=
ENST00000681136.1:n.1003G>A
ENST00000681696.1:c.702G>A	ENSP00000505871.1:p.Leu234=
ENST00000298910.11:c.5019G>A	ENSP00000298910.7:p.Leu1673=
ENST00000430804.5:c.2315G>A
ENST00000479187.5:n.1700G>A
NM_198578.3:c.5019G>A	NP_940980.3:p.Leu1673=
XM_005268629.2:c.5019G>A	XP_005268686.1:p.Leu1673=
XM_011537877.1:c.5019G>A	XP_011536179.1:p.Leu1673=
XM_011537878.1:c.5019G>A	XP_011536180.1:p.Leu1673=
XM_011537879.1:c.3816G>A	XP_011536181.1:p.Leu1272=
XM_011537881.1:c.4831G>A	XP_011536183.1:p.Val1611Ile
XM_005268629.4:c.5019G>A	XP_005268686.1:p.Leu1673=
XM_011537877.3:c.5019G>A	XP_011536179.1:p.Leu1673=
XM_011537881.3:c.4831G>A	XP_011536183.1:p.Val1611Ile
XM_017018787.1:c.1935G>A	XP_016874276.1:p.Leu645=
XM_017018788.2:c.1281G>A	XP_016874277.1:p.Leu427=
XM_024448833.1:c.3816G>A	XP_024304601.1:p.Leu1272=
XR_001748574.2:n.5387G>A
NM_198578.4:c.5019G>A MANE Select	NP_940980.4:p.Leu1673=