Canonical Allele Identifier: CA384406604

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2567345
• ClinVar RCV Id: RCV003278460
• MyVariant Identifiers: chr12:g.40745381C>G (hg19) ; chr12:g.40351579C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351579C>G , CM000674.2:g.40351579C>G	GRCh38
NC_000012.11:g.40745381C>G , CM000674.1:g.40745381C>G	GRCh37
NC_000012.10:g.39031648C>G	NCBI36
NG_011709.1:g.131569C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6422C>G MANE Select	ENSP00000298910.7:p.Thr2141Arg
ENST00000636518.1:c.219C>G
ENST00000679360.1:c.*5331C>G	ENSP00000505368.1:n.*5331C>G
ENST00000679532.1:c.2196C>G
ENST00000679683.1:c.212C>G
ENST00000680018.1:c.1867C>G	ENSP00000505347.1:n.1867C>G
ENST00000680422.1:c.2067C>G
ENST00000680425.1:c.1589C>G	ENSP00000506459.1:n.1589C>G
ENST00000680453.1:c.1879C>G
ENST00000680790.1:c.6167C>G	ENSP00000505335.1:p.Thr2056Arg
ENST00000681136.1:n.2406C>G
ENST00000681696.1:c.2105C>G	ENSP00000505871.1:p.Thr702Arg
ENST00000298910.11:c.6422C>G	ENSP00000298910.7:p.Thr2141Arg
ENST00000430804.5:c.3718C>G
ENST00000479187.5:n.3103C>G
NM_198578.3:c.6422C>G	NP_940980.3:p.Thr2141Arg
XM_005268629.2:c.6422C>G	XP_005268686.1:p.Thr2141Arg
XM_011537877.1:c.6422C>G	XP_011536179.1:p.Thr2141Arg
XM_011537878.1:c.6422C>G	XP_011536180.1:p.Thr2141Arg
XM_011537879.1:c.5219C>G	XP_011536181.1:p.Thr1740Arg
XM_005268629.4:c.6422C>G	XP_005268686.1:p.Thr2141Arg
XM_011537877.3:c.6422C>G	XP_011536179.1:p.Thr2141Arg
XM_017018787.1:c.3338C>G	XP_016874276.1:p.Thr1113Arg
XM_017018788.2:c.2684C>G	XP_016874277.1:p.Thr895Arg
XM_024448833.1:c.5219C>G	XP_024304601.1:p.Thr1740Arg
NM_198578.4:c.6422C>G MANE Select	NP_940980.4:p.Thr2141Arg