Canonical Allele Identifier: CA384419771

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40713968T>A (hg19) ; chr12:g.40320166T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320166T>A , CM000674.2:g.40320166T>A	GRCh38
NC_000012.11:g.40713968T>A , CM000674.1:g.40713968T>A	GRCh37
NC_000012.10:g.39000235T>A	NCBI36
NG_011709.1:g.100156T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.5006T>A MANE Select	ENSP00000298910.7:p.Val1669Asp
ENST00000679360.1:c.*3915T>A	ENSP00000505368.1:n.*3915T>A
ENST00000679532.1:c.780T>A
ENST00000680018.1:c.451T>A	ENSP00000505347.1:n.451T>A
ENST00000680422.1:c.651T>A
ENST00000680425.1:c.183-868T>A	ENSP00000506459.1:n.183-868T>A
ENST00000680453.1:c.473-868T>A
ENST00000680790.1:c.4751T>A	ENSP00000505335.1:p.Val1584Asp
ENST00000681136.1:n.990T>A
ENST00000681696.1:c.689T>A	ENSP00000505871.1:p.Val230Asp
ENST00000298910.11:c.5006T>A	ENSP00000298910.7:p.Val1669Asp
ENST00000430804.5:c.2302T>A
ENST00000479187.5:n.1687T>A
NM_198578.3:c.5006T>A	NP_940980.3:p.Val1669Asp
XM_005268629.2:c.5006T>A	XP_005268686.1:p.Val1669Asp
XM_011537877.1:c.5006T>A	XP_011536179.1:p.Val1669Asp
XM_011537878.1:c.5006T>A	XP_011536180.1:p.Val1669Asp
XM_011537879.1:c.3803T>A	XP_011536181.1:p.Val1268Asp
XM_011537881.1:c.4828-868T>A	XP_011536183.1:n.4828-868T>A
XM_005268629.4:c.5006T>A	XP_005268686.1:p.Val1669Asp
XM_011537877.3:c.5006T>A	XP_011536179.1:p.Val1669Asp
XM_011537881.3:c.4828-868T>A	XP_011536183.1:n.4828-868T>A
XM_017018787.1:c.1922T>A	XP_016874276.1:p.Val641Asp
XM_017018788.2:c.1268T>A	XP_016874277.1:p.Val423Asp
XM_024448833.1:c.3803T>A	XP_024304601.1:p.Val1268Asp
XR_001748574.2:n.5374T>A
NM_198578.4:c.5006T>A MANE Select	NP_940980.4:p.Val1669Asp