Canonical Allele Identifier: CA16042323
Gene: ASPM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373699
ClinVar RCV Id: RCV000413862

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142578A>T , CM000663.2:g.197142578A>T GRCh38
NC_000001.10:g.197111708A>T , CM000663.1:g.197111708A>T GRCh37
NC_000001.9:g.195378331A>T NCBI36
NG_015867.1:g.9117T>A

Transcript Alleles

HGVS Amino-acid change
NM_001206846.1:c.1674T>A VV NP_001193775.1:p.Tyr558Ter
NM_018136.4:c.1674T>A VV NP_060606.3:p.Tyr558Ter
NM_018136.5:c.1674T>A VV MANE Preferred NP_060606.3:p.Tyr558Ter
ENST00000294732.11:c.1674T>A ENSP00000294732.7:p.Tyr558Ter
ENST00000367409.8:c.1674T>A ENSP00000356379.4:p.Tyr558Ter
ENST00000612785.1:c.561+1113T>A ENSP00000479244.1:p.=