Canonical Allele Identifier: CA384419725

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40713946A>T (hg19) ; chr12:g.40320144A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320144A>T , CM000674.2:g.40320144A>T	GRCh38
NC_000012.11:g.40713946A>T , CM000674.1:g.40713946A>T	GRCh37
NC_000012.10:g.39000213A>T	NCBI36
NG_011709.1:g.100134A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4984A>T MANE Select	ENSP00000298910.7:p.Ile1662Leu
ENST00000679360.1:c.*3893A>T	ENSP00000505368.1:n.*3893A>T
ENST00000679532.1:c.758A>T
ENST00000680018.1:c.429A>T	ENSP00000505347.1:n.429A>T
ENST00000680422.1:c.629A>T
ENST00000680425.1:c.183-890A>T	ENSP00000506459.1:n.183-890A>T
ENST00000680453.1:c.473-890A>T
ENST00000680790.1:c.4729A>T	ENSP00000505335.1:p.Ile1577Leu
ENST00000681136.1:n.968A>T
ENST00000681696.1:c.667A>T	ENSP00000505871.1:p.Ile223Leu
ENST00000298910.11:c.4984A>T	ENSP00000298910.7:p.Ile1662Leu
ENST00000430804.5:c.2280A>T
ENST00000479187.5:n.1665A>T
NM_198578.3:c.4984A>T	NP_940980.3:p.Ile1662Leu
XM_005268629.2:c.4984A>T	XP_005268686.1:p.Ile1662Leu
XM_011537877.1:c.4984A>T	XP_011536179.1:p.Ile1662Leu
XM_011537878.1:c.4984A>T	XP_011536180.1:p.Ile1662Leu
XM_011537879.1:c.3781A>T	XP_011536181.1:p.Ile1261Leu
XM_011537881.1:c.4828-890A>T	XP_011536183.1:n.4828-890A>T
XM_005268629.4:c.4984A>T	XP_005268686.1:p.Ile1662Leu
XM_011537877.3:c.4984A>T	XP_011536179.1:p.Ile1662Leu
XM_011537881.3:c.4828-890A>T	XP_011536183.1:n.4828-890A>T
XM_017018787.1:c.1900A>T	XP_016874276.1:p.Ile634Leu
XM_017018788.2:c.1246A>T	XP_016874277.1:p.Ile416Leu
XM_024448833.1:c.3781A>T	XP_024304601.1:p.Ile1261Leu
XR_001748574.2:n.5352A>T
NM_198578.4:c.4984A>T MANE Select	NP_940980.4:p.Ile1662Leu