Canonical Allele Identifier: CA604503012

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1271464
• ClinVar RCV Id: RCV001681513
• dbSNP Id: rs113272586
• gnomAD v2: 12-40692580-A-AATATATATAT
• gnomAD v3: 12-40298778-A-AATATATATAT
• gnomAD v4: 12-40298778-A-AATATATATAT
• MyVariant Identifiers: chr12:g.40692582_40692583insATATATATAT (hg19) ; chr12:g.40692580_40692581insATATATATAT (hg19) ; chr12:g.40298780_40298781insATATATATAT (hg38) ; chr12:g.40298778_40298779insATATATATAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40298790_40298799dup , CM000674.2:g.40298790_40298799dup	GRCh38
NC_000012.11:g.40692592_40692601dup , CM000674.1:g.40692592_40692601dup	GRCh37
NC_000012.10:g.38978859_38978868dup	NCBI36
NG_011709.1:g.78780_78789dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.3347+297_3347+306dup MANE Select	ENSP00000298910.7:n.3347+297_3347+306dup
ENST00000679360.1:c.*2256+297_*2256+306dup	ENSP00000505368.1:n.*2256+297_*2256+306dup
ENST00000680790.1:c.3092+297_3092+306dup	ENSP00000505335.1:n.3092+297_3092+306dup
ENST00000298910.11:c.3347+297_3347+306dup	ENSP00000298910.7:n.3347+297_3347+306dup
ENST00000343742.6:c.3347+297_3347+306dup	ENSP00000341930.2:n.3347+297_3347+306dup
ENST00000430804.5:c.391+297_391+306dup
ENST00000479187.5:n.28+297_28+306dup
NM_198578.3:c.3347+297_3347+306dup	NP_940980.3:n.3347+297_3347+306dup
XM_005268629.2:c.3347+297_3347+306dup	XP_005268686.1:n.3347+297_3347+306dup
XM_011537877.1:c.3347+297_3347+306dup	XP_011536179.1:n.3347+297_3347+306dup
XM_011537878.1:c.3347+297_3347+306dup	XP_011536180.1:n.3347+297_3347+306dup
XM_011537879.1:c.2144+297_2144+306dup	XP_011536181.1:n.2144+297_2144+306dup
XM_011537880.1:c.3347+297_3347+306dup	XP_011536182.1:n.3347+297_3347+306dup
XM_011537881.1:c.3347+297_3347+306dup	XP_011536183.1:n.3347+297_3347+306dup
XM_011537882.1:c.3347+297_3347+306dup	XP_011536184.1:n.3347+297_3347+306dup
XM_005268629.4:c.3347+297_3347+306dup	XP_005268686.1:n.3347+297_3347+306dup
XM_011537877.3:c.3347+297_3347+306dup	XP_011536179.1:n.3347+297_3347+306dup
XM_011537881.3:c.3347+297_3347+306dup	XP_011536183.1:n.3347+297_3347+306dup
XM_011537882.3:c.3347+297_3347+306dup	XP_011536184.1:n.3347+297_3347+306dup
XM_017018786.2:c.3347+297_3347+306dup	XP_016874275.1:n.3347+297_3347+306dup
XM_017018787.1:c.263+297_263+306dup	XP_016874276.1:n.263+297_263+306dup
XM_017018789.2:c.3347+297_3347+306dup	XP_016874278.1:n.3347+297_3347+306dup
XM_024448833.1:c.2144+297_2144+306dup	XP_024304601.1:n.2144+297_2144+306dup
XR_001748574.2:n.3589+297_3589+306dup
NM_198578.4:c.3347+297_3347+306dup MANE Select	NP_940980.4:n.3347+297_3347+306dup