Canonical Allele Identifier: CA384413215

Gene: LRRK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363436A>C , CM000674.2:g.40363436A>C	GRCh38
NC_000012.11:g.40757238A>C , CM000674.1:g.40757238A>C	GRCh37
NC_000012.10:g.39043505A>C	NCBI36
NG_011709.1:g.143426A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7063A>C MANE Select	ENSP00000298910.7:p.Ile2355Leu
ENST00000636518.1:c.860A>C
ENST00000679360.1:c.*5972A>C	ENSP00000505368.1:n.*5972A>C
ENST00000679532.1:c.2837A>C
ENST00000679683.1:c.853A>C
ENST00000680018.1:c.2508A>C	ENSP00000505347.1:n.2508A>C
ENST00000680422.1:c.4150A>C
ENST00000680425.1:c.2230A>C	ENSP00000506459.1:n.2230A>C
ENST00000680453.1:c.2520A>C
ENST00000680790.1:c.6808A>C	ENSP00000505335.1:p.Ile2270Leu
ENST00000681136.1:n.3047A>C
ENST00000681696.1:c.2746A>C	ENSP00000505871.1:p.Ile916Leu
ENST00000681773.1:n.270A>C
ENST00000298910.11:c.7063A>C	ENSP00000298910.7:p.Ile2355Leu
ENST00000430804.5:c.4359A>C
ENST00000479187.5:n.3744A>C
NM_198578.3:c.7063A>C	NP_940980.3:p.Ile2355Leu
XM_005268629.2:c.7063A>C	XP_005268686.1:p.Ile2355Leu
XM_011537877.1:c.7063A>C	XP_011536179.1:p.Ile2355Leu
XM_011537879.1:c.5860A>C	XP_011536181.1:p.Ile1954Leu
XR_944868.1:n.485-8609T>G
XM_005268629.4:c.7063A>C	XP_005268686.1:p.Ile2355Leu
XM_011537877.3:c.7063A>C	XP_011536179.1:p.Ile2355Leu
XM_017018787.1:c.3979A>C	XP_016874276.1:p.Ile1327Leu
XM_017018788.2:c.3325A>C	XP_016874277.1:p.Ile1109Leu
XM_024448833.1:c.5860A>C	XP_024304601.1:p.Ile1954Leu
XR_944868.2:n.485-8609T>G
NM_198578.4:c.7063A>C MANE Select	NP_940980.4:p.Ile2355Leu