Canonical Allele Identifier: CA384399304
Gene: LRRK2 HGNC NCBI

Linked Data

dbSNP Id: rs7308720
gnomAD v2: 12-40657700-C-A
gnomAD v4: 12-40263898-C-A
MyVariant Identifiers: chr12:g.40657700C>A (hg19) chr12:g.40263898C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40263898C>A , CM000674.2:g.40263898C>A GRCh38
NC_000012.11:g.40657700C>A , CM000674.1:g.40657700C>A GRCh37
NC_000012.10:g.38943967C>A NCBI36
NG_011709.1:g.43888C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298910.12:c.1653C>A MANE Select ENSP00000298910.7:p.Asn551Lys
ENST00000679360.1:c.*562C>A ENSP00000505368.1:n.*562C>A
ENST00000680790.1:c.1398C>A ENSP00000505335.1:p.Asn466Lys
ENST00000298910.11:c.1653C>A ENSP00000298910.7:p.Asn551Lys
ENST00000343742.6:c.1653C>A ENSP00000341930.2:p.Asn551Lys
ENST00000416796.5:c.897C>A ENSP00000398726.1:p.Asn299Lys
NM_198578.3:c.1653C>A NP_940980.3:p.Asn551Lys
XM_005268629.2:c.1653C>A XP_005268686.1:p.Asn551Lys
XM_011537877.1:c.1653C>A XP_011536179.1:p.Asn551Lys
XM_011537878.1:c.1653C>A XP_011536180.1:p.Asn551Lys
XM_011537879.1:c.450C>A XP_011536181.1:p.Asn150Lys
XM_011537880.1:c.1653C>A XP_011536182.1:p.Asn551Lys
XM_011537881.1:c.1653C>A XP_011536183.1:p.Asn551Lys
XM_011537882.1:c.1653C>A XP_011536184.1:p.Asn551Lys
XM_005268629.4:c.1653C>A XP_005268686.1:p.Asn551Lys
XM_011537877.3:c.1653C>A XP_011536179.1:p.Asn551Lys
XM_011537881.3:c.1653C>A XP_011536183.1:p.Asn551Lys
XM_011537882.3:c.1653C>A XP_011536184.1:p.Asn551Lys
XM_017018786.2:c.1653C>A XP_016874275.1:p.Asn551Lys
XM_017018789.2:c.1653C>A XP_016874278.1:p.Asn551Lys
XM_024448833.1:c.450C>A XP_024304601.1:p.Asn150Lys
XR_001748574.2:n.1895C>A
NM_198578.4:c.1653C>A MANE Select NP_940980.4:p.Asn551Lys
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