Canonical Allele Identifier: CA384413648

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757355A>T (hg19) ; chr12:g.40363553A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363553A>T , CM000674.2:g.40363553A>T	GRCh38
NC_000012.11:g.40757355A>T , CM000674.1:g.40757355A>T	GRCh37
NC_000012.10:g.39043622A>T	NCBI36
NG_011709.1:g.143543A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7180A>T MANE Select	ENSP00000298910.7:p.Arg2394Trp
ENST00000636518.1:c.977A>T
ENST00000679360.1:c.*6089A>T	ENSP00000505368.1:n.*6089A>T
ENST00000679532.1:c.2954A>T
ENST00000679683.1:c.970A>T
ENST00000680018.1:c.2625A>T	ENSP00000505347.1:n.2625A>T
ENST00000680422.1:c.4267A>T
ENST00000680425.1:c.2347A>T	ENSP00000506459.1:n.2347A>T
ENST00000680453.1:c.2637A>T
ENST00000680790.1:c.6925A>T	ENSP00000505335.1:p.Arg2309Trp
ENST00000681136.1:n.3164A>T
ENST00000681696.1:c.2863A>T	ENSP00000505871.1:p.Arg955Trp
ENST00000681773.1:n.387A>T
ENST00000298910.11:c.7180A>T	ENSP00000298910.7:p.Arg2394Trp
ENST00000430804.5:c.4476A>T
ENST00000479187.5:n.3861A>T
NM_198578.3:c.7180A>T	NP_940980.3:p.Arg2394Trp
XM_005268629.2:c.7180A>T	XP_005268686.1:p.Arg2394Trp
XM_011537877.1:c.7180A>T	XP_011536179.1:p.Arg2394Trp
XM_011537879.1:c.5977A>T	XP_011536181.1:p.Arg1993Trp
XR_944868.1:n.485-8726T>A
XM_005268629.4:c.7180A>T	XP_005268686.1:p.Arg2394Trp
XM_011537877.3:c.7180A>T	XP_011536179.1:p.Arg2394Trp
XM_017018787.1:c.4096A>T	XP_016874276.1:p.Arg1366Trp
XM_017018788.2:c.3442A>T	XP_016874277.1:p.Arg1148Trp
XM_024448833.1:c.5977A>T	XP_024304601.1:p.Arg1993Trp
XR_944868.2:n.485-8726T>A
NM_198578.4:c.7180A>T MANE Select	NP_940980.4:p.Arg2394Trp