Canonical Allele Identifier: CA384406640

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745390T>A (hg19) ; chr12:g.40351588T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351588T>A , CM000674.2:g.40351588T>A	GRCh38
NC_000012.11:g.40745390T>A , CM000674.1:g.40745390T>A	GRCh37
NC_000012.10:g.39031657T>A	NCBI36
NG_011709.1:g.131578T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6431T>A MANE Select	ENSP00000298910.7:p.Ile2144Asn
ENST00000636518.1:c.228T>A
ENST00000679360.1:c.*5340T>A	ENSP00000505368.1:n.*5340T>A
ENST00000679532.1:c.2205T>A
ENST00000679683.1:c.221T>A
ENST00000680018.1:c.1876T>A	ENSP00000505347.1:n.1876T>A
ENST00000680422.1:c.2076T>A
ENST00000680425.1:c.1598T>A	ENSP00000506459.1:n.1598T>A
ENST00000680453.1:c.1888T>A
ENST00000680790.1:c.6176T>A	ENSP00000505335.1:p.Ile2059Asn
ENST00000681136.1:n.2415T>A
ENST00000681696.1:c.2114T>A	ENSP00000505871.1:p.Ile705Asn
ENST00000298910.11:c.6431T>A	ENSP00000298910.7:p.Ile2144Asn
ENST00000430804.5:c.3727T>A
ENST00000479187.5:n.3112T>A
NM_198578.3:c.6431T>A	NP_940980.3:p.Ile2144Asn
XM_005268629.2:c.6431T>A	XP_005268686.1:p.Ile2144Asn
XM_011537877.1:c.6431T>A	XP_011536179.1:p.Ile2144Asn
XM_011537878.1:c.6431T>A	XP_011536180.1:p.Ile2144Asn
XM_011537879.1:c.5228T>A	XP_011536181.1:p.Ile1743Asn
XM_005268629.4:c.6431T>A	XP_005268686.1:p.Ile2144Asn
XM_011537877.3:c.6431T>A	XP_011536179.1:p.Ile2144Asn
XM_017018787.1:c.3347T>A	XP_016874276.1:p.Ile1116Asn
XM_017018788.2:c.2693T>A	XP_016874277.1:p.Ile898Asn
XM_024448833.1:c.5228T>A	XP_024304601.1:p.Ile1743Asn
NM_198578.4:c.6431T>A MANE Select	NP_940980.4:p.Ile2144Asn