Canonical Allele Identifier: CA1309001
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 764935
ClinVar RCV Id: RCV000943303
dbSNP Id: rs147005963

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197093074C>T , CM000663.2:g.197093074C>T GRCh38
NC_000001.10:g.197062204C>T , CM000663.1:g.197062204C>T GRCh37
NC_000001.9:g.195328827C>T NCBI36
NG_015867.1:g.58621G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2559G>A
ENST00000367409.9:c.9272G>A MANE Select ENSP00000356379.4:p.Arg3091His
ENST00000680265.1:c.9494G>A ENSP00000505384.1:p.Arg3165His
ENST00000680710.1:c.9272G>A ENSP00000506676.1:p.Arg3091His
ENST00000294732.11:c.4517G>A ENSP00000294732.7:p.Arg1506His
ENST00000367408.5:c.2267G>A ENSP00000356378.1:p.Arg756His
ENST00000367409.8:c.9272G>A ENSP00000356379.4:p.Arg3091His
ENST00000612785.1:c.3230G>A ENSP00000479244.1:p.Arg1077His
NM_001206846.1:c.4517G>A NP_001193775.1:p.Arg1506His
NM_018136.4:c.9272G>A NP_060606.3:p.Arg3091His
NM_018136.5:c.9272G>A MANE Select NP_060606.3:p.Arg3091His
NM_001206846.2:c.4517G>A NP_001193775.1:p.Arg1506His