Canonical Allele Identifier: CA384398797

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 3016383
• ClinVar RCV Id: RCV003876534
• gnomAD v4: 12-40263813-A-T
• MyVariant Identifiers: chr12:g.40657615A>T (hg19) ; chr12:g.40263813A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40263813A>T , CM000674.2:g.40263813A>T	GRCh38
NC_000012.11:g.40657615A>T , CM000674.1:g.40657615A>T	GRCh37
NC_000012.10:g.38943882A>T	NCBI36
NG_011709.1:g.43803A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.1568A>T MANE Select	ENSP00000298910.7:p.Asp523Val
ENST00000679360.1:c.*477A>T	ENSP00000505368.1:n.*477A>T
ENST00000680790.1:c.1313A>T	ENSP00000505335.1:p.Asp438Val
ENST00000298910.11:c.1568A>T	ENSP00000298910.7:p.Asp523Val
ENST00000343742.6:c.1568A>T	ENSP00000341930.2:p.Asp523Val
ENST00000416796.5:c.812A>T	ENSP00000398726.1:p.Asp271Val
NM_198578.3:c.1568A>T	NP_940980.3:p.Asp523Val
XM_005268629.2:c.1568A>T	XP_005268686.1:p.Asp523Val
XM_011537877.1:c.1568A>T	XP_011536179.1:p.Asp523Val
XM_011537878.1:c.1568A>T	XP_011536180.1:p.Asp523Val
XM_011537879.1:c.365A>T	XP_011536181.1:p.Asp122Val
XM_011537880.1:c.1568A>T	XP_011536182.1:p.Asp523Val
XM_011537881.1:c.1568A>T	XP_011536183.1:p.Asp523Val
XM_011537882.1:c.1568A>T	XP_011536184.1:p.Asp523Val
XM_005268629.4:c.1568A>T	XP_005268686.1:p.Asp523Val
XM_011537877.3:c.1568A>T	XP_011536179.1:p.Asp523Val
XM_011537881.3:c.1568A>T	XP_011536183.1:p.Asp523Val
XM_011537882.3:c.1568A>T	XP_011536184.1:p.Asp523Val
XM_017018786.2:c.1568A>T	XP_016874275.1:p.Asp523Val
XM_017018789.2:c.1568A>T	XP_016874278.1:p.Asp523Val
XM_024448833.1:c.365A>T	XP_024304601.1:p.Asp122Val
XR_001748574.2:n.1810A>T
NM_198578.4:c.1568A>T MANE Select	NP_940980.4:p.Asp523Val