Canonical Allele Identifier: CA384413471

Gene: LRRK2

Linked Data

• dbSNP Id: rs1946780097
• COSMIC: COSM5032523 ; COSM5032524
• MyVariant Identifiers: chr12:g.40757308A>G (hg19) ; chr12:g.40363506A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363506A>G , CM000674.2:g.40363506A>G	GRCh38
NC_000012.11:g.40757308A>G , CM000674.1:g.40757308A>G	GRCh37
NC_000012.10:g.39043575A>G	NCBI36
NG_011709.1:g.143496A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7133A>G MANE Select	ENSP00000298910.7:p.Lys2378Arg
ENST00000636518.1:c.930A>G
ENST00000679360.1:c.*6042A>G	ENSP00000505368.1:n.*6042A>G
ENST00000679532.1:c.2907A>G
ENST00000679683.1:c.923A>G
ENST00000680018.1:c.2578A>G	ENSP00000505347.1:n.2578A>G
ENST00000680422.1:c.4220A>G
ENST00000680425.1:c.2300A>G	ENSP00000506459.1:n.2300A>G
ENST00000680453.1:c.2590A>G
ENST00000680790.1:c.6878A>G	ENSP00000505335.1:p.Lys2293Arg
ENST00000681136.1:n.3117A>G
ENST00000681696.1:c.2816A>G	ENSP00000505871.1:p.Lys939Arg
ENST00000681773.1:n.340A>G
ENST00000298910.11:c.7133A>G	ENSP00000298910.7:p.Lys2378Arg
ENST00000430804.5:c.4429A>G
ENST00000479187.5:n.3814A>G
NM_198578.3:c.7133A>G	NP_940980.3:p.Lys2378Arg
XM_005268629.2:c.7133A>G	XP_005268686.1:p.Lys2378Arg
XM_011537877.1:c.7133A>G	XP_011536179.1:p.Lys2378Arg
XM_011537879.1:c.5930A>G	XP_011536181.1:p.Lys1977Arg
XR_944868.1:n.485-8679T>C
XM_005268629.4:c.7133A>G	XP_005268686.1:p.Lys2378Arg
XM_011537877.3:c.7133A>G	XP_011536179.1:p.Lys2378Arg
XM_017018787.1:c.4049A>G	XP_016874276.1:p.Lys1350Arg
XM_017018788.2:c.3395A>G	XP_016874277.1:p.Lys1132Arg
XM_024448833.1:c.5930A>G	XP_024304601.1:p.Lys1977Arg
XR_944868.2:n.485-8679T>C
NM_198578.4:c.7133A>G MANE Select	NP_940980.4:p.Lys2378Arg