Canonical Allele Identifier: CA479241503

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40351652-A-C
• MyVariant Identifiers: chr12:g.40745454A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351652A>C , CM000674.2:g.40351652A>C	GRCh38
NC_000012.11:g.40745454A>C , CM000674.1:g.40745454A>C	GRCh37
NC_000012.10:g.39031721A>C	NCBI36
NG_011709.1:g.131642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6495A>C MANE Select	ENSP00000298910.7:p.Ala2165=
ENST00000636518.1:c.292A>C
ENST00000679360.1:c.*5404A>C	ENSP00000505368.1:n.*5404A>C
ENST00000679532.1:c.2269A>C
ENST00000679683.1:c.285A>C
ENST00000680018.1:c.1940A>C	ENSP00000505347.1:n.1940A>C
ENST00000680422.1:c.2140A>C
ENST00000680425.1:c.1662A>C	ENSP00000506459.1:n.1662A>C
ENST00000680453.1:c.1952A>C
ENST00000680790.1:c.6240A>C	ENSP00000505335.1:p.Ala2080=
ENST00000681136.1:n.2479A>C
ENST00000681696.1:c.2178A>C	ENSP00000505871.1:p.Ala726=
ENST00000298910.11:c.6495A>C	ENSP00000298910.7:p.Ala2165=
ENST00000430804.5:c.3791A>C
ENST00000479187.5:n.3176A>C
NM_198578.3:c.6495A>C	NP_940980.3:p.Ala2165=
XM_005268629.2:c.6495A>C	XP_005268686.1:p.Ala2165=
XM_011537877.1:c.6495A>C	XP_011536179.1:p.Ala2165=
XM_011537878.1:c.6495A>C	XP_011536180.1:p.Ala2165=
XM_011537879.1:c.5292A>C	XP_011536181.1:p.Ala1764=
XM_005268629.4:c.6495A>C	XP_005268686.1:p.Ala2165=
XM_011537877.3:c.6495A>C	XP_011536179.1:p.Ala2165=
XM_017018787.1:c.3411A>C	XP_016874276.1:p.Ala1137=
XM_017018788.2:c.2757A>C	XP_016874277.1:p.Ala919=
XM_024448833.1:c.5292A>C	XP_024304601.1:p.Ala1764=
NM_198578.4:c.6495A>C MANE Select	NP_940980.4:p.Ala2165=