Canonical Allele Identifier: CA479268417

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1744354
• ClinVar RCV Id: RCV002342755
• dbSNP Id: rs1945354935
• gnomAD v3: 12-40320116-C-T
• gnomAD v4: 12-40320116-C-T
• MyVariant Identifiers: chr12:g.40713918C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320116C>T , CM000674.2:g.40320116C>T	GRCh38
NC_000012.11:g.40713918C>T , CM000674.1:g.40713918C>T	GRCh37
NC_000012.10:g.39000185C>T	NCBI36
NG_011709.1:g.100106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4956C>T MANE Select	ENSP00000298910.7:p.Leu1652=
ENST00000679360.1:c.*3865C>T	ENSP00000505368.1:n.*3865C>T
ENST00000679532.1:c.730C>T
ENST00000680018.1:c.401C>T	ENSP00000505347.1:n.401C>T
ENST00000680422.1:c.601C>T
ENST00000680425.1:c.183-918C>T	ENSP00000506459.1:n.183-918C>T
ENST00000680453.1:c.473-918C>T
ENST00000680790.1:c.4701C>T	ENSP00000505335.1:p.Leu1567=
ENST00000681136.1:n.940C>T
ENST00000681696.1:c.639C>T	ENSP00000505871.1:p.Leu213=
ENST00000298910.11:c.4956C>T	ENSP00000298910.7:p.Leu1652=
ENST00000430804.5:c.2252C>T
ENST00000479187.5:n.1637C>T
NM_198578.3:c.4956C>T	NP_940980.3:p.Leu1652=
XM_005268629.2:c.4956C>T	XP_005268686.1:p.Leu1652=
XM_011537877.1:c.4956C>T	XP_011536179.1:p.Leu1652=
XM_011537878.1:c.4956C>T	XP_011536180.1:p.Leu1652=
XM_011537879.1:c.3753C>T	XP_011536181.1:p.Leu1251=
XM_011537881.1:c.4828-918C>T	XP_011536183.1:n.4828-918C>T
XM_005268629.4:c.4956C>T	XP_005268686.1:p.Leu1652=
XM_011537877.3:c.4956C>T	XP_011536179.1:p.Leu1652=
XM_011537881.3:c.4828-918C>T	XP_011536183.1:n.4828-918C>T
XM_017018787.1:c.1872C>T	XP_016874276.1:p.Leu624=
XM_017018788.2:c.1218C>T	XP_016874277.1:p.Leu406=
XM_024448833.1:c.3753C>T	XP_024304601.1:p.Leu1251=
XR_001748574.2:n.5324C>T
NM_198578.4:c.4956C>T MANE Select	NP_940980.4:p.Leu1652=