Canonical Allele Identifier: CA479238466

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2453086
• ClinVar RCV Id: RCV003182541
• MyVariant Identifiers: chr12:g.40734135A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340333A>G , CM000674.2:g.40340333A>G	GRCh38
NC_000012.11:g.40734135A>G , CM000674.1:g.40734135A>G	GRCh37
NC_000012.10:g.39020402A>G	NCBI36
NG_011709.1:g.120323A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5988A>G MANE Select	ENSP00000298910.7:p.Lys1996=
ENST00000679360.1:c.*4897A>G	ENSP00000505368.1:n.*4897A>G
ENST00000679532.1:c.1762A>G
ENST00000680018.1:c.1433A>G	ENSP00000505347.1:n.1433A>G
ENST00000680422.1:c.1633A>G
ENST00000680425.1:c.1155A>G	ENSP00000506459.1:n.1155A>G
ENST00000680453.1:c.1445A>G
ENST00000680790.1:c.5733A>G	ENSP00000505335.1:p.Lys1911=
ENST00000681136.1:n.1972A>G
ENST00000681696.1:c.1671A>G	ENSP00000505871.1:p.Lys557=
ENST00000298910.11:c.5988A>G	ENSP00000298910.7:p.Lys1996=
ENST00000430804.5:c.3284A>G
ENST00000479187.5:n.2669A>G
NM_198578.3:c.5988A>G	NP_940980.3:p.Lys1996=
XM_005268629.2:c.5988A>G	XP_005268686.1:p.Lys1996=
XM_011537877.1:c.5988A>G	XP_011536179.1:p.Lys1996=
XM_011537878.1:c.5988A>G	XP_011536180.1:p.Lys1996=
XM_011537879.1:c.4785A>G	XP_011536181.1:p.Lys1595=
XM_005268629.4:c.5988A>G	XP_005268686.1:p.Lys1996=
XM_011537877.3:c.5988A>G	XP_011536179.1:p.Lys1996=
XM_017018787.1:c.2904A>G	XP_016874276.1:p.Lys968=
XM_017018788.2:c.2250A>G	XP_016874277.1:p.Lys750=
XM_024448833.1:c.4785A>G	XP_024304601.1:p.Lys1595=
NM_198578.4:c.5988A>G MANE Select	NP_940980.4:p.Lys1996=