Canonical Allele Identifier: CA384403987

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1751299
• ClinVar RCV Id: RCV002358286
• MyVariant Identifiers: chr12:g.40734205A>G (hg19) ; chr12:g.40340403A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340403A>G , CM000674.2:g.40340403A>G	GRCh38
NC_000012.11:g.40734205A>G , CM000674.1:g.40734205A>G	GRCh37
NC_000012.10:g.39020472A>G	NCBI36
NG_011709.1:g.120393A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6058A>G MANE Select	ENSP00000298910.7:p.Ile2020Val
ENST00000679360.1:c.*4967A>G	ENSP00000505368.1:n.*4967A>G
ENST00000679532.1:c.1832A>G
ENST00000680018.1:c.1503A>G	ENSP00000505347.1:n.1503A>G
ENST00000680422.1:c.1703A>G
ENST00000680425.1:c.1225A>G	ENSP00000506459.1:n.1225A>G
ENST00000680453.1:c.1515A>G
ENST00000680790.1:c.5803A>G	ENSP00000505335.1:p.Ile1935Val
ENST00000681136.1:n.2042A>G
ENST00000681696.1:c.1741A>G	ENSP00000505871.1:p.Ile581Val
ENST00000298910.11:c.6058A>G	ENSP00000298910.7:p.Ile2020Val
ENST00000430804.5:c.3354A>G
ENST00000479187.5:n.2739A>G
NM_198578.3:c.6058A>G	NP_940980.3:p.Ile2020Val
XM_005268629.2:c.6058A>G	XP_005268686.1:p.Ile2020Val
XM_011537877.1:c.6058A>G	XP_011536179.1:p.Ile2020Val
XM_011537878.1:c.6058A>G	XP_011536180.1:p.Ile2020Val
XM_011537879.1:c.4855A>G	XP_011536181.1:p.Ile1619Val
XM_005268629.4:c.6058A>G	XP_005268686.1:p.Ile2020Val
XM_011537877.3:c.6058A>G	XP_011536179.1:p.Ile2020Val
XM_017018787.1:c.2974A>G	XP_016874276.1:p.Ile992Val
XM_017018788.2:c.2320A>G	XP_016874277.1:p.Ile774Val
XM_024448833.1:c.4855A>G	XP_024304601.1:p.Ile1619Val
NM_198578.4:c.6058A>G MANE Select	NP_940980.4:p.Ile2020Val