Canonical Allele Identifier: CA6513871

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1414245
• ClinVar RCV Id: RCV001930399
• dbSNP Id: rs201853545
• ExAC: 12:40692301 A / T
• gnomAD v2: 12-40692301-A-T
• gnomAD v3: 12-40298499-A-T
• gnomAD v4: 12-40298499-A-T
• MyVariant Identifiers: chr12:g.40692301A>T (hg19) ; chr12:g.40298499A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40298499A>T , CM000674.2:g.40298499A>T	GRCh38
NC_000012.11:g.40692301A>T , CM000674.1:g.40692301A>T	GRCh37
NC_000012.10:g.38978568A>T	NCBI36
NG_011709.1:g.78489A>T

Transcript Alleles

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