Canonical Allele Identifier: CA479267661

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1627924
• ClinVar RCV Id: RCV002123283
• dbSNP Id: rs2136879452
• gnomAD v4: 12-40319991-T-C
• MyVariant Identifiers: chr12:g.40713793T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40319991T>C , CM000674.2:g.40319991T>C	GRCh38
NC_000012.11:g.40713793T>C , CM000674.1:g.40713793T>C	GRCh37
NC_000012.10:g.39000060T>C	NCBI36
NG_011709.1:g.99981T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.4831T>C MANE Select	ENSP00000298910.7:p.Leu1611=
ENST00000679360.1:c.*3740T>C	ENSP00000505368.1:n.*3740T>C
ENST00000679532.1:c.605T>C
ENST00000680018.1:c.276T>C	ENSP00000505347.1:n.276T>C
ENST00000680422.1:c.476T>C
ENST00000680425.1:c.183-1043T>C	ENSP00000506459.1:n.183-1043T>C
ENST00000680453.1:c.473-1043T>C
ENST00000680790.1:c.4576T>C	ENSP00000505335.1:p.Leu1526=
ENST00000681136.1:n.815T>C
ENST00000681696.1:c.514T>C	ENSP00000505871.1:p.Leu172=
ENST00000298910.11:c.4831T>C	ENSP00000298910.7:p.Leu1611=
ENST00000430804.5:c.2127T>C
ENST00000479187.5:n.1512T>C
ENST00000481256.1:n.490T>C
NM_198578.3:c.4831T>C	NP_940980.3:p.Leu1611=
XM_005268629.2:c.4831T>C	XP_005268686.1:p.Leu1611=
XM_011537877.1:c.4831T>C	XP_011536179.1:p.Leu1611=
XM_011537878.1:c.4831T>C	XP_011536180.1:p.Leu1611=
XM_011537879.1:c.3628T>C	XP_011536181.1:p.Leu1210=
XM_011537881.1:c.4828-1043T>C	XP_011536183.1:n.4828-1043T>C
XM_005268629.4:c.4831T>C	XP_005268686.1:p.Leu1611=
XM_011537877.3:c.4831T>C	XP_011536179.1:p.Leu1611=
XM_011537881.3:c.4828-1043T>C	XP_011536183.1:n.4828-1043T>C
XM_017018787.1:c.1747T>C	XP_016874276.1:p.Leu583=
XM_017018788.2:c.1093T>C	XP_016874277.1:p.Leu365=
XM_024448833.1:c.3628T>C	XP_024304601.1:p.Leu1210=
XR_001748574.2:n.5199T>C
NM_198578.4:c.4831T>C MANE Select	NP_940980.4:p.Leu1611=