Canonical Allele Identifier: CA16042323
Gene: ASPM HGNC NCBI

Linked Data

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
ENST00000367409.9:c.1674T>A MANE Select ENSP00000356379.4:p.Tyr558Ter
ENST00000679766.1:n.1891T>A
ENST00000680265.1:c.1674T>A ENSP00000505384.1:p.Tyr558Ter
ENST00000680710.1:n.1674T>A ENSP00000506676.1:p.Tyr558Ter
ENST00000681879.1:n.1674T>A ENSP00000505363.1: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:n.561+1113T>A
NM_001206846.1:c.1674T>A NP_001193775.1:p.Tyr558Ter
NM_018136.4:c.1674T>A NP_060606.3:p.Tyr558Ter
NM_018136.5:c.1674T>A MANE Select NP_060606.3:p.Tyr558Ter
NM_001206846.2:c.1674T>A NP_001193775.1:p.Tyr558Ter