Canonical Allele Identifier: CA384406892

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745432C>T (hg19) ; chr12:g.40351630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351630C>T , CM000674.2:g.40351630C>T	GRCh38
NC_000012.11:g.40745432C>T , CM000674.1:g.40745432C>T	GRCh37
NC_000012.10:g.39031699C>T	NCBI36
NG_011709.1:g.131620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6473C>T MANE Select	ENSP00000298910.7:p.Thr2158Ile
ENST00000636518.1:c.270C>T
ENST00000679360.1:c.*5382C>T	ENSP00000505368.1:n.*5382C>T
ENST00000679532.1:c.2247C>T
ENST00000679683.1:c.263C>T
ENST00000680018.1:c.1918C>T	ENSP00000505347.1:n.1918C>T
ENST00000680422.1:c.2118C>T
ENST00000680425.1:c.1640C>T	ENSP00000506459.1:n.1640C>T
ENST00000680453.1:c.1930C>T
ENST00000680790.1:c.6218C>T	ENSP00000505335.1:p.Thr2073Ile
ENST00000681136.1:n.2457C>T
ENST00000681696.1:c.2156C>T	ENSP00000505871.1:p.Thr719Ile
ENST00000298910.11:c.6473C>T	ENSP00000298910.7:p.Thr2158Ile
ENST00000430804.5:c.3769C>T
ENST00000479187.5:n.3154C>T
NM_198578.3:c.6473C>T	NP_940980.3:p.Thr2158Ile
XM_005268629.2:c.6473C>T	XP_005268686.1:p.Thr2158Ile
XM_011537877.1:c.6473C>T	XP_011536179.1:p.Thr2158Ile
XM_011537878.1:c.6473C>T	XP_011536180.1:p.Thr2158Ile
XM_011537879.1:c.5270C>T	XP_011536181.1:p.Thr1757Ile
XM_005268629.4:c.6473C>T	XP_005268686.1:p.Thr2158Ile
XM_011537877.3:c.6473C>T	XP_011536179.1:p.Thr2158Ile
XM_017018787.1:c.3389C>T	XP_016874276.1:p.Thr1130Ile
XM_017018788.2:c.2735C>T	XP_016874277.1:p.Thr912Ile
XM_024448833.1:c.5270C>T	XP_024304601.1:p.Thr1757Ile
NM_198578.4:c.6473C>T MANE Select	NP_940980.4:p.Thr2158Ile