Canonical Allele Identifier: CA340327
Gene: ASPM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4961
ClinVar RCV Id: RCV000005249
dbSNP Id: rs137852995

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197117876C>T , CM000663.2:g.197117876C>T GRCh38
NC_000001.10:g.197087006C>T , CM000663.1:g.197087006C>T GRCh37
NC_000001.9:g.195353629C>T NCBI36
NG_015867.1:g.33819G>A

Transcript Alleles

HGVS Amino-acid change
NM_001206846.1:c.3978G>A VV NP_001193775.1:p.Trp1326Ter
NM_018136.4:c.3978G>A VV NP_060606.3:p.Trp1326Ter
NM_018136.5:c.3978G>A VV MANE Preferred NP_060606.3:p.Trp1326Ter
ENST00000294732.11:c.3978G>A ENSP00000294732.7:p.Trp1326Ter
ENST00000367408.5:c.1728G>A ENSP00000356378.1:p.Trp576Ter
ENST00000367409.8:c.3978G>A ENSP00000356379.4:p.Trp1326Ter
ENST00000612785.1:c.562-15229G>A ENSP00000479244.1:p.=