Canonical Allele Identifier: CA384406529

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2587312
• ClinVar RCV Id: RCV003350665
• MyVariant Identifiers: chr12:g.40745363C>G (hg19) ; chr12:g.40351561C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351561C>G , CM000674.2:g.40351561C>G	GRCh38
NC_000012.11:g.40745363C>G , CM000674.1:g.40745363C>G	GRCh37
NC_000012.10:g.39031630C>G	NCBI36
NG_011709.1:g.131551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6404C>G MANE Select	ENSP00000298910.7:p.Ala2135Gly
ENST00000636518.1:c.201C>G
ENST00000679360.1:c.*5313C>G	ENSP00000505368.1:n.*5313C>G
ENST00000679532.1:c.2178C>G
ENST00000679683.1:c.194C>G
ENST00000680018.1:c.1849C>G	ENSP00000505347.1:n.1849C>G
ENST00000680422.1:c.2049C>G
ENST00000680425.1:c.1571C>G	ENSP00000506459.1:n.1571C>G
ENST00000680453.1:c.1861C>G
ENST00000680790.1:c.6149C>G	ENSP00000505335.1:p.Ala2050Gly
ENST00000681136.1:n.2388C>G
ENST00000681696.1:c.2087C>G	ENSP00000505871.1:p.Ala696Gly
ENST00000298910.11:c.6404C>G	ENSP00000298910.7:p.Ala2135Gly
ENST00000430804.5:c.3700C>G
ENST00000479187.5:n.3085C>G
NM_198578.3:c.6404C>G	NP_940980.3:p.Ala2135Gly
XM_005268629.2:c.6404C>G	XP_005268686.1:p.Ala2135Gly
XM_011537877.1:c.6404C>G	XP_011536179.1:p.Ala2135Gly
XM_011537878.1:c.6404C>G	XP_011536180.1:p.Ala2135Gly
XM_011537879.1:c.5201C>G	XP_011536181.1:p.Ala1734Gly
XM_005268629.4:c.6404C>G	XP_005268686.1:p.Ala2135Gly
XM_011537877.3:c.6404C>G	XP_011536179.1:p.Ala2135Gly
XM_017018787.1:c.3320C>G	XP_016874276.1:p.Ala1107Gly
XM_017018788.2:c.2666C>G	XP_016874277.1:p.Ala889Gly
XM_024448833.1:c.5201C>G	XP_024304601.1:p.Ala1734Gly
NM_198578.4:c.6404C>G MANE Select	NP_940980.4:p.Ala2135Gly