Canonical Allele Identifier: CA384406748

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745412T>G (hg19) ; chr12:g.40351610T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351610T>G , CM000674.2:g.40351610T>G	GRCh38
NC_000012.11:g.40745412T>G , CM000674.1:g.40745412T>G	GRCh37
NC_000012.10:g.39031679T>G	NCBI36
NG_011709.1:g.131600T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6453T>G MANE Select	ENSP00000298910.7:p.Ile2151Met
ENST00000636518.1:c.250T>G
ENST00000679360.1:c.*5362T>G	ENSP00000505368.1:n.*5362T>G
ENST00000679532.1:c.2227T>G
ENST00000679683.1:c.243T>G
ENST00000680018.1:c.1898T>G	ENSP00000505347.1:n.1898T>G
ENST00000680422.1:c.2098T>G
ENST00000680425.1:c.1620T>G	ENSP00000506459.1:n.1620T>G
ENST00000680453.1:c.1910T>G
ENST00000680790.1:c.6198T>G	ENSP00000505335.1:p.Ile2066Met
ENST00000681136.1:n.2437T>G
ENST00000681696.1:c.2136T>G	ENSP00000505871.1:p.Ile712Met
ENST00000298910.11:c.6453T>G	ENSP00000298910.7:p.Ile2151Met
ENST00000430804.5:c.3749T>G
ENST00000479187.5:n.3134T>G
NM_198578.3:c.6453T>G	NP_940980.3:p.Ile2151Met
XM_005268629.2:c.6453T>G	XP_005268686.1:p.Ile2151Met
XM_011537877.1:c.6453T>G	XP_011536179.1:p.Ile2151Met
XM_011537878.1:c.6453T>G	XP_011536180.1:p.Ile2151Met
XM_011537879.1:c.5250T>G	XP_011536181.1:p.Ile1750Met
XM_005268629.4:c.6453T>G	XP_005268686.1:p.Ile2151Met
XM_011537877.3:c.6453T>G	XP_011536179.1:p.Ile2151Met
XM_017018787.1:c.3369T>G	XP_016874276.1:p.Ile1123Met
XM_017018788.2:c.2715T>G	XP_016874277.1:p.Ile905Met
XM_024448833.1:c.5250T>G	XP_024304601.1:p.Ile1750Met
NM_198578.4:c.6453T>G MANE Select	NP_940980.4:p.Ile2151Met