Canonical Allele Identifier: CA384415629

Gene: LRRK2

Linked Data

• dbSNP Id: rs1188311610
• gnomAD v2: 12-40692963-T-G
• gnomAD v4: 12-40299161-T-G
• MyVariant Identifiers: chr12:g.40692963T>G (hg19) ; chr12:g.40299161T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40299161T>G , CM000674.2:g.40299161T>G	GRCh38
NC_000012.11:g.40692963T>G , CM000674.1:g.40692963T>G	GRCh37
NC_000012.10:g.38979230T>G	NCBI36
NG_011709.1:g.79151T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.3400T>G MANE Select	ENSP00000298910.7:p.Leu1134Val
ENST00000679360.1:c.*2309T>G	ENSP00000505368.1:n.*2309T>G
ENST00000680790.1:c.3145T>G	ENSP00000505335.1:p.Leu1049Val
ENST00000298910.11:c.3400T>G	ENSP00000298910.7:p.Leu1134Val
ENST00000343742.6:c.3400T>G	ENSP00000341930.2:p.Leu1134Val
ENST00000430804.5:c.444T>G
ENST00000479187.5:n.81T>G
NM_198578.3:c.3400T>G	NP_940980.3:p.Leu1134Val
XM_005268629.2:c.3400T>G	XP_005268686.1:p.Leu1134Val
XM_011537877.1:c.3400T>G	XP_011536179.1:p.Leu1134Val
XM_011537878.1:c.3400T>G	XP_011536180.1:p.Leu1134Val
XM_011537879.1:c.2197T>G	XP_011536181.1:p.Leu733Val
XM_011537880.1:c.3400T>G	XP_011536182.1:p.Leu1134Val
XM_011537881.1:c.3400T>G	XP_011536183.1:p.Leu1134Val
XM_011537882.1:c.3400T>G	XP_011536184.1:p.Leu1134Val
XM_005268629.4:c.3400T>G	XP_005268686.1:p.Leu1134Val
XM_011537877.3:c.3400T>G	XP_011536179.1:p.Leu1134Val
XM_011537881.3:c.3400T>G	XP_011536183.1:p.Leu1134Val
XM_011537882.3:c.3400T>G	XP_011536184.1:p.Leu1134Val
XM_017018786.2:c.3400T>G	XP_016874275.1:p.Leu1134Val
XM_017018787.1:c.316T>G	XP_016874276.1:p.Leu106Val
XM_017018789.2:c.3400T>G	XP_016874278.1:p.Leu1134Val
XM_024448833.1:c.2197T>G	XP_024304601.1:p.Leu733Val
XR_001748574.2:n.3642T>G
NM_198578.4:c.3400T>G MANE Select	NP_940980.4:p.Leu1134Val