Canonical Allele Identifier: CA384406620

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40351584-C-A
• MyVariant Identifiers: chr12:g.40745386C>A (hg19) ; chr12:g.40351584C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351584C>A , CM000674.2:g.40351584C>A	GRCh38
NC_000012.11:g.40745386C>A , CM000674.1:g.40745386C>A	GRCh37
NC_000012.10:g.39031653C>A	NCBI36
NG_011709.1:g.131574C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6427C>A MANE Select	ENSP00000298910.7:p.Arg2143Ser
ENST00000636518.1:c.224C>A
ENST00000679360.1:c.*5336C>A	ENSP00000505368.1:n.*5336C>A
ENST00000679532.1:c.2201C>A
ENST00000679683.1:c.217C>A
ENST00000680018.1:c.1872C>A	ENSP00000505347.1:n.1872C>A
ENST00000680422.1:c.2072C>A
ENST00000680425.1:c.1594C>A	ENSP00000506459.1:n.1594C>A
ENST00000680453.1:c.1884C>A
ENST00000680790.1:c.6172C>A	ENSP00000505335.1:p.Arg2058Ser
ENST00000681136.1:n.2411C>A
ENST00000681696.1:c.2110C>A	ENSP00000505871.1:p.Arg704Ser
ENST00000298910.11:c.6427C>A	ENSP00000298910.7:p.Arg2143Ser
ENST00000430804.5:c.3723C>A
ENST00000479187.5:n.3108C>A
NM_198578.3:c.6427C>A	NP_940980.3:p.Arg2143Ser
XM_005268629.2:c.6427C>A	XP_005268686.1:p.Arg2143Ser
XM_011537877.1:c.6427C>A	XP_011536179.1:p.Arg2143Ser
XM_011537878.1:c.6427C>A	XP_011536180.1:p.Arg2143Ser
XM_011537879.1:c.5224C>A	XP_011536181.1:p.Arg1742Ser
XM_005268629.4:c.6427C>A	XP_005268686.1:p.Arg2143Ser
XM_011537877.3:c.6427C>A	XP_011536179.1:p.Arg2143Ser
XM_017018787.1:c.3343C>A	XP_016874276.1:p.Arg1115Ser
XM_017018788.2:c.2689C>A	XP_016874277.1:p.Arg897Ser
XM_024448833.1:c.5224C>A	XP_024304601.1:p.Arg1742Ser
NM_198578.4:c.6427C>A MANE Select	NP_940980.4:p.Arg2143Ser