Canonical Allele Identifier: CA384403997

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734208G>A (hg19) ; chr12:g.40340406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340406G>A , CM000674.2:g.40340406G>A	GRCh38
NC_000012.11:g.40734208G>A , CM000674.1:g.40734208G>A	GRCh37
NC_000012.10:g.39020475G>A	NCBI36
NG_011709.1:g.120396G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6061G>A MANE Select	ENSP00000298910.7:p.Ala2021Thr
ENST00000679360.1:c.*4970G>A	ENSP00000505368.1:n.*4970G>A
ENST00000679532.1:c.1835G>A
ENST00000680018.1:c.1506G>A	ENSP00000505347.1:n.1506G>A
ENST00000680422.1:c.1706G>A
ENST00000680425.1:c.1228G>A	ENSP00000506459.1:n.1228G>A
ENST00000680453.1:c.1518G>A
ENST00000680790.1:c.5806G>A	ENSP00000505335.1:p.Ala1936Thr
ENST00000681136.1:n.2045G>A
ENST00000681696.1:c.1744G>A	ENSP00000505871.1:p.Ala582Thr
ENST00000298910.11:c.6061G>A	ENSP00000298910.7:p.Ala2021Thr
ENST00000430804.5:c.3357G>A
ENST00000479187.5:n.2742G>A
NM_198578.3:c.6061G>A	NP_940980.3:p.Ala2021Thr
XM_005268629.2:c.6061G>A	XP_005268686.1:p.Ala2021Thr
XM_011537877.1:c.6061G>A	XP_011536179.1:p.Ala2021Thr
XM_011537878.1:c.6061G>A	XP_011536180.1:p.Ala2021Thr
XM_011537879.1:c.4858G>A	XP_011536181.1:p.Ala1620Thr
XM_005268629.4:c.6061G>A	XP_005268686.1:p.Ala2021Thr
XM_011537877.3:c.6061G>A	XP_011536179.1:p.Ala2021Thr
XM_017018787.1:c.2977G>A	XP_016874276.1:p.Ala993Thr
XM_017018788.2:c.2323G>A	XP_016874277.1:p.Ala775Thr
XM_024448833.1:c.4858G>A	XP_024304601.1:p.Ala1620Thr
NM_198578.4:c.6061G>A MANE Select	NP_940980.4:p.Ala2021Thr