Canonical Allele Identifier: CA384413620

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757349T>A (hg19) ; chr12:g.40363547T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363547T>A , CM000674.2:g.40363547T>A	GRCh38
NC_000012.11:g.40757349T>A , CM000674.1:g.40757349T>A	GRCh37
NC_000012.10:g.39043616T>A	NCBI36
NG_011709.1:g.143537T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7174T>A MANE Select	ENSP00000298910.7:p.Phe2392Ile
ENST00000636518.1:c.971T>A
ENST00000679360.1:c.*6083T>A	ENSP00000505368.1:n.*6083T>A
ENST00000679532.1:c.2948T>A
ENST00000679683.1:c.964T>A
ENST00000680018.1:c.2619T>A	ENSP00000505347.1:n.2619T>A
ENST00000680422.1:c.4261T>A
ENST00000680425.1:c.2341T>A	ENSP00000506459.1:n.2341T>A
ENST00000680453.1:c.2631T>A
ENST00000680790.1:c.6919T>A	ENSP00000505335.1:p.Phe2307Ile
ENST00000681136.1:n.3158T>A
ENST00000681696.1:c.2857T>A	ENSP00000505871.1:p.Phe953Ile
ENST00000681773.1:n.381T>A
ENST00000298910.11:c.7174T>A	ENSP00000298910.7:p.Phe2392Ile
ENST00000430804.5:c.4470T>A
ENST00000479187.5:n.3855T>A
NM_198578.3:c.7174T>A	NP_940980.3:p.Phe2392Ile
XM_005268629.2:c.7174T>A	XP_005268686.1:p.Phe2392Ile
XM_011537877.1:c.7174T>A	XP_011536179.1:p.Phe2392Ile
XM_011537879.1:c.5971T>A	XP_011536181.1:p.Phe1991Ile
XR_944868.1:n.485-8720A>T
XM_005268629.4:c.7174T>A	XP_005268686.1:p.Phe2392Ile
XM_011537877.3:c.7174T>A	XP_011536179.1:p.Phe2392Ile
XM_017018787.1:c.4090T>A	XP_016874276.1:p.Phe1364Ile
XM_017018788.2:c.3436T>A	XP_016874277.1:p.Phe1146Ile
XM_024448833.1:c.5971T>A	XP_024304601.1:p.Phe1991Ile
XR_944868.2:n.485-8720A>T
NM_198578.4:c.7174T>A MANE Select	NP_940980.4:p.Phe2392Ile