Canonical Allele Identifier: CA1309933
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 234655
ClinVar RCV Id: RCV000221876
dbSNP Id: rs147622433

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197104829C>T , CM000663.2:g.197104829C>T GRCh38
NC_000001.10:g.197073959C>T , CM000663.1:g.197073959C>T GRCh37
NC_000001.9:g.195340582C>T NCBI36
NG_015867.1:g.46866G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2108-8665G>A
ENST00000367409.9:c.4422G>A MANE Select ENSP00000356379.4:p.Trp1474Ter
ENST00000680265.1:c.4422G>A ENSP00000505384.1:p.Trp1474Ter
ENST00000680710.1:n.4422G>A ENSP00000506676.1:p.Trp1474Ter
ENST00000681879.1:n.4470G>A ENSP00000505363.1:n.4470G>A
ENST00000294732.11:c.4066-8665G>A ENSP00000294732.7:n.4066-8665G>A
ENST00000367408.5:c.1816-8665G>A ENSP00000356378.1:n.1816-8665G>A
ENST00000367409.8:c.4422G>A ENSP00000356379.4:p.Trp1474Ter
ENST00000612785.1:c.562-2182G>A ENSP00000479244.1:n.562-2182G>A
NM_001206846.1:c.4066-8665G>A NP_001193775.1:n.4066-8665G>A
NM_018136.4:c.4422G>A NP_060606.3:p.Trp1474Ter
NM_018136.5:c.4422G>A MANE Select NP_060606.3:p.Trp1474Ter
NM_001206846.2:c.4066-8665G>A NP_001193775.1:n.4066-8665G>A