Canonical Allele Identifier: CA384403536

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2005616
• ClinVar RCV Id: RCV002825351
• MyVariant Identifiers: chr12:g.40734113T>G (hg19) ; chr12:g.40340311T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340311T>G , CM000674.2:g.40340311T>G	GRCh38
NC_000012.11:g.40734113T>G , CM000674.1:g.40734113T>G	GRCh37
NC_000012.10:g.39020380T>G	NCBI36
NG_011709.1:g.120301T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5966T>G MANE Select	ENSP00000298910.7:p.Met1989Arg
ENST00000679360.1:c.*4875T>G	ENSP00000505368.1:n.*4875T>G
ENST00000679532.1:c.1740T>G
ENST00000680018.1:c.1411T>G	ENSP00000505347.1:n.1411T>G
ENST00000680422.1:c.1611T>G
ENST00000680425.1:c.1133T>G	ENSP00000506459.1:n.1133T>G
ENST00000680453.1:c.1423T>G
ENST00000680790.1:c.5711T>G	ENSP00000505335.1:p.Met1904Arg
ENST00000681136.1:n.1950T>G
ENST00000681696.1:c.1649T>G	ENSP00000505871.1:p.Met550Arg
ENST00000298910.11:c.5966T>G	ENSP00000298910.7:p.Met1989Arg
ENST00000430804.5:c.3262T>G
ENST00000479187.5:n.2647T>G
NM_198578.3:c.5966T>G	NP_940980.3:p.Met1989Arg
XM_005268629.2:c.5966T>G	XP_005268686.1:p.Met1989Arg
XM_011537877.1:c.5966T>G	XP_011536179.1:p.Met1989Arg
XM_011537878.1:c.5966T>G	XP_011536180.1:p.Met1989Arg
XM_011537879.1:c.4763T>G	XP_011536181.1:p.Met1588Arg
XM_005268629.4:c.5966T>G	XP_005268686.1:p.Met1989Arg
XM_011537877.3:c.5966T>G	XP_011536179.1:p.Met1989Arg
XM_017018787.1:c.2882T>G	XP_016874276.1:p.Met961Arg
XM_017018788.2:c.2228T>G	XP_016874277.1:p.Met743Arg
XM_024448833.1:c.4763T>G	XP_024304601.1:p.Met1588Arg
NM_198578.4:c.5966T>G MANE Select	NP_940980.4:p.Met1989Arg