Canonical Allele Identifier: CA479240883

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745346T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351544T>C , CM000674.2:g.40351544T>C	GRCh38
NC_000012.11:g.40745346T>C , CM000674.1:g.40745346T>C	GRCh37
NC_000012.10:g.39031613T>C	NCBI36
NG_011709.1:g.131534T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6387T>C MANE Select	ENSP00000298910.7:p.Phe2129=
ENST00000636518.1:c.184T>C
ENST00000679360.1:c.*5296T>C	ENSP00000505368.1:n.*5296T>C
ENST00000679532.1:c.2161T>C
ENST00000679683.1:c.177T>C
ENST00000680018.1:c.1832T>C	ENSP00000505347.1:n.1832T>C
ENST00000680422.1:c.2032T>C
ENST00000680425.1:c.1554T>C	ENSP00000506459.1:n.1554T>C
ENST00000680453.1:c.1844T>C
ENST00000680790.1:c.6132T>C	ENSP00000505335.1:p.Phe2044=
ENST00000681136.1:n.2371T>C
ENST00000681696.1:c.2070T>C	ENSP00000505871.1:p.Phe690=
ENST00000298910.11:c.6387T>C	ENSP00000298910.7:p.Phe2129=
ENST00000430804.5:c.3683T>C
ENST00000479187.5:n.3068T>C
NM_198578.3:c.6387T>C	NP_940980.3:p.Phe2129=
XM_005268629.2:c.6387T>C	XP_005268686.1:p.Phe2129=
XM_011537877.1:c.6387T>C	XP_011536179.1:p.Phe2129=
XM_011537878.1:c.6387T>C	XP_011536180.1:p.Phe2129=
XM_011537879.1:c.5184T>C	XP_011536181.1:p.Phe1728=
XM_005268629.4:c.6387T>C	XP_005268686.1:p.Phe2129=
XM_011537877.3:c.6387T>C	XP_011536179.1:p.Phe2129=
XM_017018787.1:c.3303T>C	XP_016874276.1:p.Phe1101=
XM_017018788.2:c.2649T>C	XP_016874277.1:p.Phe883=
XM_024448833.1:c.5184T>C	XP_024304601.1:p.Phe1728=
NM_198578.4:c.6387T>C MANE Select	NP_940980.4:p.Phe2129=