Canonical Allele Identifier: CA384403504

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1750704
• ClinVar RCV Id: RCV002356008
• gnomAD v4: 12-40340303-C-G
• MyVariant Identifiers: chr12:g.40734105C>G (hg19) ; chr12:g.40340303C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340303C>G , CM000674.2:g.40340303C>G	GRCh38
NC_000012.11:g.40734105C>G , CM000674.1:g.40734105C>G	GRCh37
NC_000012.10:g.39020372C>G	NCBI36
NG_011709.1:g.120293C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5958C>G MANE Select	ENSP00000298910.7:p.His1986Gln
ENST00000679360.1:c.*4867C>G	ENSP00000505368.1:n.*4867C>G
ENST00000679532.1:c.1732C>G
ENST00000680018.1:c.1403C>G	ENSP00000505347.1:n.1403C>G
ENST00000680422.1:c.1603C>G
ENST00000680425.1:c.1125C>G	ENSP00000506459.1:n.1125C>G
ENST00000680453.1:c.1415C>G
ENST00000680790.1:c.5703C>G	ENSP00000505335.1:p.His1901Gln
ENST00000681136.1:n.1942C>G
ENST00000681696.1:c.1641C>G	ENSP00000505871.1:p.His547Gln
ENST00000298910.11:c.5958C>G	ENSP00000298910.7:p.His1986Gln
ENST00000430804.5:c.3254C>G
ENST00000479187.5:n.2639C>G
NM_198578.3:c.5958C>G	NP_940980.3:p.His1986Gln
XM_005268629.2:c.5958C>G	XP_005268686.1:p.His1986Gln
XM_011537877.1:c.5958C>G	XP_011536179.1:p.His1986Gln
XM_011537878.1:c.5958C>G	XP_011536180.1:p.His1986Gln
XM_011537879.1:c.4755C>G	XP_011536181.1:p.His1585Gln
XM_005268629.4:c.5958C>G	XP_005268686.1:p.His1986Gln
XM_011537877.3:c.5958C>G	XP_011536179.1:p.His1986Gln
XM_017018787.1:c.2874C>G	XP_016874276.1:p.His958Gln
XM_017018788.2:c.2220C>G	XP_016874277.1:p.His740Gln
XM_024448833.1:c.4755C>G	XP_024304601.1:p.His1585Gln
NM_198578.4:c.5958C>G MANE Select	NP_940980.4:p.His1986Gln