Canonical Allele Identifier: CA342307
Gene: ASPM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21634
dbSNP Id: rs199422194

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090328G>A , CM000663.2:g.197090328G>A GRCh38
NC_000001.10:g.197059458G>A , CM000663.1:g.197059458G>A GRCh37
NC_000001.9:g.195326081G>A NCBI36
NG_015867.1:g.61367C>T

Transcript Alleles

HGVS Amino-acid change
NM_001206846.1:c.4942C>T VV NP_001193775.1:p.Arg1648Ter
NM_018136.4:c.9697C>T VV NP_060606.3:p.Arg3233Ter
NM_018136.5:c.9697C>T VV MANE Preferred NP_060606.3:p.Arg3233Ter
ENST00000294732.11:c.4942C>T ENSP00000294732.7:p.Arg1648Ter
ENST00000367408.5:c.2692C>T ENSP00000356378.1:p.Arg898Ter
ENST00000367409.8:c.9697C>T ENSP00000356379.4:p.Arg3233Ter
ENST00000612785.1:c.3655C>T ENSP00000479244.1:p.Arg1219Ter