Canonical Allele Identifier: CA384406586

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745376T>A (hg19) ; chr12:g.40351574T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351574T>A , CM000674.2:g.40351574T>A	GRCh38
NC_000012.11:g.40745376T>A , CM000674.1:g.40745376T>A	GRCh37
NC_000012.10:g.39031643T>A	NCBI36
NG_011709.1:g.131564T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6417T>A MANE Select	ENSP00000298910.7:p.Cys2139Ter
ENST00000636518.1:c.214T>A
ENST00000679360.1:c.*5326T>A	ENSP00000505368.1:n.*5326T>A
ENST00000679532.1:c.2191T>A
ENST00000679683.1:c.207T>A
ENST00000680018.1:c.1862T>A	ENSP00000505347.1:n.1862T>A
ENST00000680422.1:c.2062T>A
ENST00000680425.1:c.1584T>A	ENSP00000506459.1:n.1584T>A
ENST00000680453.1:c.1874T>A
ENST00000680790.1:c.6162T>A	ENSP00000505335.1:p.Cys2054Ter
ENST00000681136.1:n.2401T>A
ENST00000681696.1:c.2100T>A	ENSP00000505871.1:p.Cys700Ter
ENST00000298910.11:c.6417T>A	ENSP00000298910.7:p.Cys2139Ter
ENST00000430804.5:c.3713T>A
ENST00000479187.5:n.3098T>A
NM_198578.3:c.6417T>A	NP_940980.3:p.Cys2139Ter
XM_005268629.2:c.6417T>A	XP_005268686.1:p.Cys2139Ter
XM_011537877.1:c.6417T>A	XP_011536179.1:p.Cys2139Ter
XM_011537878.1:c.6417T>A	XP_011536180.1:p.Cys2139Ter
XM_011537879.1:c.5214T>A	XP_011536181.1:p.Cys1738Ter
XM_005268629.4:c.6417T>A	XP_005268686.1:p.Cys2139Ter
XM_011537877.3:c.6417T>A	XP_011536179.1:p.Cys2139Ter
XM_017018787.1:c.3333T>A	XP_016874276.1:p.Cys1111Ter
XM_017018788.2:c.2679T>A	XP_016874277.1:p.Cys893Ter
XM_024448833.1:c.5214T>A	XP_024304601.1:p.Cys1738Ter
NM_198578.4:c.6417T>A MANE Select	NP_940980.4:p.Cys2139Ter