Canonical Allele Identifier: CA384406579

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745374T>G (hg19) ; chr12:g.40351572T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351572T>G , CM000674.2:g.40351572T>G	GRCh38
NC_000012.11:g.40745374T>G , CM000674.1:g.40745374T>G	GRCh37
NC_000012.10:g.39031641T>G	NCBI36
NG_011709.1:g.131562T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6415T>G MANE Select	ENSP00000298910.7:p.Cys2139Gly
ENST00000636518.1:c.212T>G
ENST00000679360.1:c.*5324T>G	ENSP00000505368.1:n.*5324T>G
ENST00000679532.1:c.2189T>G
ENST00000679683.1:c.205T>G
ENST00000680018.1:c.1860T>G	ENSP00000505347.1:n.1860T>G
ENST00000680422.1:c.2060T>G
ENST00000680425.1:c.1582T>G	ENSP00000506459.1:n.1582T>G
ENST00000680453.1:c.1872T>G
ENST00000680790.1:c.6160T>G	ENSP00000505335.1:p.Cys2054Gly
ENST00000681136.1:n.2399T>G
ENST00000681696.1:c.2098T>G	ENSP00000505871.1:p.Cys700Gly
ENST00000298910.11:c.6415T>G	ENSP00000298910.7:p.Cys2139Gly
ENST00000430804.5:c.3711T>G
ENST00000479187.5:n.3096T>G
NM_198578.3:c.6415T>G	NP_940980.3:p.Cys2139Gly
XM_005268629.2:c.6415T>G	XP_005268686.1:p.Cys2139Gly
XM_011537877.1:c.6415T>G	XP_011536179.1:p.Cys2139Gly
XM_011537878.1:c.6415T>G	XP_011536180.1:p.Cys2139Gly
XM_011537879.1:c.5212T>G	XP_011536181.1:p.Cys1738Gly
XM_005268629.4:c.6415T>G	XP_005268686.1:p.Cys2139Gly
XM_011537877.3:c.6415T>G	XP_011536179.1:p.Cys2139Gly
XM_017018787.1:c.3331T>G	XP_016874276.1:p.Cys1111Gly
XM_017018788.2:c.2677T>G	XP_016874277.1:p.Cys893Gly
XM_024448833.1:c.5212T>G	XP_024304601.1:p.Cys1738Gly
NM_198578.4:c.6415T>G MANE Select	NP_940980.4:p.Cys2139Gly