Canonical Allele Identifier: CA384403778

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734161T>A (hg19) ; chr12:g.40340359T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340359T>A , CM000674.2:g.40340359T>A	GRCh38
NC_000012.11:g.40734161T>A , CM000674.1:g.40734161T>A	GRCh37
NC_000012.10:g.39020428T>A	NCBI36
NG_011709.1:g.120349T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6014T>A MANE Select	ENSP00000298910.7:p.Leu2005Gln
ENST00000679360.1:c.*4923T>A	ENSP00000505368.1:n.*4923T>A
ENST00000679532.1:c.1788T>A
ENST00000680018.1:c.1459T>A	ENSP00000505347.1:n.1459T>A
ENST00000680422.1:c.1659T>A
ENST00000680425.1:c.1181T>A	ENSP00000506459.1:n.1181T>A
ENST00000680453.1:c.1471T>A
ENST00000680790.1:c.5759T>A	ENSP00000505335.1:p.Leu1920Gln
ENST00000681136.1:n.1998T>A
ENST00000681696.1:c.1697T>A	ENSP00000505871.1:p.Leu566Gln
ENST00000298910.11:c.6014T>A	ENSP00000298910.7:p.Leu2005Gln
ENST00000430804.5:c.3310T>A
ENST00000479187.5:n.2695T>A
NM_198578.3:c.6014T>A	NP_940980.3:p.Leu2005Gln
XM_005268629.2:c.6014T>A	XP_005268686.1:p.Leu2005Gln
XM_011537877.1:c.6014T>A	XP_011536179.1:p.Leu2005Gln
XM_011537878.1:c.6014T>A	XP_011536180.1:p.Leu2005Gln
XM_011537879.1:c.4811T>A	XP_011536181.1:p.Leu1604Gln
XM_005268629.4:c.6014T>A	XP_005268686.1:p.Leu2005Gln
XM_011537877.3:c.6014T>A	XP_011536179.1:p.Leu2005Gln
XM_017018787.1:c.2930T>A	XP_016874276.1:p.Leu977Gln
XM_017018788.2:c.2276T>A	XP_016874277.1:p.Leu759Gln
XM_024448833.1:c.4811T>A	XP_024304601.1:p.Leu1604Gln
NM_198578.4:c.6014T>A MANE Select	NP_940980.4:p.Leu2005Gln