Canonical Allele Identifier: CA235333837

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2140453
• ClinVar RCV Id: RCV003073699
• dbSNP Id: rs200434075
• gnomAD v3: 12-40340453-A-G
• gnomAD v4: 12-40340453-A-G
• MyVariant Identifiers: chr12:g.40734255A>G (hg19) ; chr12:g.40340453A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340453A>G , CM000674.2:g.40340453A>G	GRCh38
NC_000012.11:g.40734255A>G , CM000674.1:g.40734255A>G	GRCh37
NC_000012.10:g.39020522A>G	NCBI36
NG_011709.1:g.120443A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6108A>G MANE Select	ENSP00000298910.7:p.Pro2036=
ENST00000679360.1:c.*5017A>G	ENSP00000505368.1:n.*5017A>G
ENST00000679532.1:c.1882A>G
ENST00000680018.1:c.1553A>G	ENSP00000505347.1:n.1553A>G
ENST00000680422.1:c.1753A>G
ENST00000680425.1:c.1275A>G	ENSP00000506459.1:n.1275A>G
ENST00000680453.1:c.1565A>G
ENST00000680790.1:c.5853A>G	ENSP00000505335.1:p.Pro1951=
ENST00000681136.1:n.2092A>G
ENST00000681696.1:c.1791A>G	ENSP00000505871.1:p.Pro597=
ENST00000298910.11:c.6108A>G	ENSP00000298910.7:p.Pro2036=
ENST00000430804.5:c.3404A>G
ENST00000479187.5:n.2789A>G
NM_198578.3:c.6108A>G	NP_940980.3:p.Pro2036=
XM_005268629.2:c.6108A>G	XP_005268686.1:p.Pro2036=
XM_011537877.1:c.6108A>G	XP_011536179.1:p.Pro2036=
XM_011537878.1:c.6108A>G	XP_011536180.1:p.Pro2036=
XM_011537879.1:c.4905A>G	XP_011536181.1:p.Pro1635=
XM_005268629.4:c.6108A>G	XP_005268686.1:p.Pro2036=
XM_011537877.3:c.6108A>G	XP_011536179.1:p.Pro2036=
XM_017018787.1:c.3024A>G	XP_016874276.1:p.Pro1008=
XM_017018788.2:c.2370A>G	XP_016874277.1:p.Pro790=
XM_024448833.1:c.4905A>G	XP_024304601.1:p.Pro1635=
NM_198578.4:c.6108A>G MANE Select	NP_940980.4:p.Pro2036=