Canonical Allele Identifier: CA6514860

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2447236
• ClinVar RCV Id: RCV003165140
• dbSNP Id: rs146225678
• ExAC: 12:40757355 A / C
• gnomAD v2: 12-40757355-A-C
• gnomAD v3: 12-40363553-A-C
• gnomAD v4: 12-40363553-A-C
• MyVariant Identifiers: chr12:g.40757355A>C (hg19) ; chr12:g.40363553A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7180A>C MANE Select	ENSP00000298910.7:p.Arg2394=
ENST00000636518.1:c.977A>C
ENST00000679360.1:c.*6089A>C	ENSP00000505368.1:n.*6089A>C
ENST00000679532.1:c.2954A>C
ENST00000679683.1:c.970A>C
ENST00000680018.1:c.2625A>C	ENSP00000505347.1:n.2625A>C
ENST00000680422.1:c.4267A>C
ENST00000680425.1:c.2347A>C	ENSP00000506459.1:n.2347A>C
ENST00000680453.1:c.2637A>C
ENST00000680790.1:c.6925A>C	ENSP00000505335.1:p.Arg2309=
ENST00000681136.1:n.3164A>C
ENST00000681696.1:c.2863A>C	ENSP00000505871.1:p.Arg955=
ENST00000681773.1:n.387A>C
ENST00000298910.11:c.7180A>C	ENSP00000298910.7:p.Arg2394=
ENST00000430804.5:c.4476A>C
ENST00000479187.5:n.3861A>C
NM_198578.3:c.7180A>C	NP_940980.3:p.Arg2394=
XM_005268629.2:c.7180A>C	XP_005268686.1:p.Arg2394=
XM_011537877.1:c.7180A>C	XP_011536179.1:p.Arg2394=
XM_011537879.1:c.5977A>C	XP_011536181.1:p.Arg1993=
XR_944868.1:n.485-8726T>G
XM_005268629.4:c.7180A>C	XP_005268686.1:p.Arg2394=
XM_011537877.3:c.7180A>C	XP_011536179.1:p.Arg2394=
XM_017018787.1:c.4096A>C	XP_016874276.1:p.Arg1366=
XM_017018788.2:c.3442A>C	XP_016874277.1:p.Arg1148=
XM_024448833.1:c.5977A>C	XP_024304601.1:p.Arg1993=
XR_944868.2:n.485-8726T>G
NM_198578.4:c.7180A>C MANE Select	NP_940980.4:p.Arg2394=