Canonical Allele Identifier: CA479241088

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2567332
• ClinVar RCV Id: RCV003311186
• MyVariant Identifiers: chr12:g.40745383A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351581A>C , CM000674.2:g.40351581A>C	GRCh38
NC_000012.11:g.40745383A>C , CM000674.1:g.40745383A>C	GRCh37
NC_000012.10:g.39031650A>C	NCBI36
NG_011709.1:g.131571A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6424A>C MANE Select	ENSP00000298910.7:p.Arg2142=
ENST00000636518.1:c.221A>C
ENST00000679360.1:c.*5333A>C	ENSP00000505368.1:n.*5333A>C
ENST00000679532.1:c.2198A>C
ENST00000679683.1:c.214A>C
ENST00000680018.1:c.1869A>C	ENSP00000505347.1:n.1869A>C
ENST00000680422.1:c.2069A>C
ENST00000680425.1:c.1591A>C	ENSP00000506459.1:n.1591A>C
ENST00000680453.1:c.1881A>C
ENST00000680790.1:c.6169A>C	ENSP00000505335.1:p.Arg2057=
ENST00000681136.1:n.2408A>C
ENST00000681696.1:c.2107A>C	ENSP00000505871.1:p.Arg703=
ENST00000298910.11:c.6424A>C	ENSP00000298910.7:p.Arg2142=
ENST00000430804.5:c.3720A>C
ENST00000479187.5:n.3105A>C
NM_198578.3:c.6424A>C	NP_940980.3:p.Arg2142=
XM_005268629.2:c.6424A>C	XP_005268686.1:p.Arg2142=
XM_011537877.1:c.6424A>C	XP_011536179.1:p.Arg2142=
XM_011537878.1:c.6424A>C	XP_011536180.1:p.Arg2142=
XM_011537879.1:c.5221A>C	XP_011536181.1:p.Arg1741=
XM_005268629.4:c.6424A>C	XP_005268686.1:p.Arg2142=
XM_011537877.3:c.6424A>C	XP_011536179.1:p.Arg2142=
XM_017018787.1:c.3340A>C	XP_016874276.1:p.Arg1114=
XM_017018788.2:c.2686A>C	XP_016874277.1:p.Arg896=
XM_024448833.1:c.5221A>C	XP_024304601.1:p.Arg1741=
NM_198578.4:c.6424A>C MANE Select	NP_940980.4:p.Arg2142=