Canonical Allele Identifier: CA384407139

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745470T>A (hg19) ; chr12:g.40351668T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351668T>A , CM000674.2:g.40351668T>A	GRCh38
NC_000012.11:g.40745470T>A , CM000674.1:g.40745470T>A	GRCh37
NC_000012.10:g.39031737T>A	NCBI36
NG_011709.1:g.131658T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6511T>A MANE Select	ENSP00000298910.7:p.Cys2171Ser
ENST00000636518.1:c.308T>A
ENST00000679360.1:c.*5420T>A	ENSP00000505368.1:n.*5420T>A
ENST00000679532.1:c.2285T>A
ENST00000679683.1:c.301T>A
ENST00000680018.1:c.1956T>A	ENSP00000505347.1:n.1956T>A
ENST00000680422.1:c.2156T>A
ENST00000680425.1:c.1678T>A	ENSP00000506459.1:n.1678T>A
ENST00000680453.1:c.1968T>A
ENST00000680790.1:c.6256T>A	ENSP00000505335.1:p.Cys2086Ser
ENST00000681136.1:n.2495T>A
ENST00000681696.1:c.2194T>A	ENSP00000505871.1:p.Cys732Ser
ENST00000298910.11:c.6511T>A	ENSP00000298910.7:p.Cys2171Ser
ENST00000430804.5:c.3807T>A
ENST00000479187.5:n.3192T>A
NM_198578.3:c.6511T>A	NP_940980.3:p.Cys2171Ser
XM_005268629.2:c.6511T>A	XP_005268686.1:p.Cys2171Ser
XM_011537877.1:c.6511T>A	XP_011536179.1:p.Cys2171Ser
XM_011537878.1:c.6511T>A	XP_011536180.1:p.Cys2171Ser
XM_011537879.1:c.5308T>A	XP_011536181.1:p.Cys1770Ser
XM_005268629.4:c.6511T>A	XP_005268686.1:p.Cys2171Ser
XM_011537877.3:c.6511T>A	XP_011536179.1:p.Cys2171Ser
XM_017018787.1:c.3427T>A	XP_016874276.1:p.Cys1143Ser
XM_017018788.2:c.2773T>A	XP_016874277.1:p.Cys925Ser
XM_024448833.1:c.5308T>A	XP_024304601.1:p.Cys1770Ser
NM_198578.4:c.6511T>A MANE Select	NP_940980.4:p.Cys2171Ser