Canonical Allele Identifier: CA342252
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21584
ClinVar RCV Id: RCV000020774
dbSNP Id: rs199422162

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197105177C>T , CM000663.2:g.197105177C>T GRCh38
NC_000001.10:g.197074307C>T , CM000663.1:g.197074307C>T GRCh37
NC_000001.9:g.195340930C>T NCBI36
NG_015867.1:g.46518G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2108-9013G>A
ENST00000367409.9:c.4074G>A MANE Select ENSP00000356379.4:p.Trp1358Ter
ENST00000680265.1:c.4074G>A ENSP00000505384.1:p.Trp1358Ter
ENST00000680710.1:c.4074G>A ENSP00000506676.1:p.Trp1358Ter
ENST00000681879.1:c.4122G>A ENSP00000505363.1:n.4122G>A
ENST00000294732.11:c.4066-9013G>A ENSP00000294732.7:n.4066-9013G>A
ENST00000367408.5:c.1816-9013G>A ENSP00000356378.1:n.1816-9013G>A
ENST00000367409.8:c.4074G>A ENSP00000356379.4:p.Trp1358Ter
ENST00000612785.1:c.562-2530G>A ENSP00000479244.1:n.562-2530G>A
NM_001206846.1:c.4066-9013G>A NP_001193775.1:n.4066-9013G>A
NM_018136.4:c.4074G>A NP_060606.3:p.Trp1358Ter
NM_018136.5:c.4074G>A MANE Select NP_060606.3:p.Trp1358Ter
NM_001206846.2:c.4066-9013G>A NP_001193775.1:n.4066-9013G>A