Canonical Allele Identifier: CA344003301
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090987T>A , CM000663.2:g.197090987T>A GRCh38
NC_000001.10:g.197060117T>A , CM000663.1:g.197060117T>A GRCh37
NC_000001.9:g.195326740T>A NCBI36
NG_015867.1:g.60708A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2786A>T
ENST00000367409.9:c.9499A>T MANE Select ENSP00000356379.4:p.Ile3167Phe
ENST00000680265.1:c.9721A>T ENSP00000505384.1:p.Ile3241Phe
ENST00000680710.1:c.9475A>T ENSP00000506676.1:p.Ile3159Phe
ENST00000294732.11:c.4744A>T ENSP00000294732.7:p.Ile1582Phe
ENST00000367408.5:c.2494A>T ENSP00000356378.1:p.Ile832Phe
ENST00000367409.8:c.9499A>T ENSP00000356379.4:p.Ile3167Phe
ENST00000612785.1:c.3457A>T ENSP00000479244.1:p.Ile1153Phe
NM_001206846.1:c.4744A>T NP_001193775.1:p.Ile1582Phe
NM_018136.4:c.9499A>T NP_060606.3:p.Ile3167Phe
NM_018136.5:c.9499A>T MANE Select NP_060606.3:p.Ile3167Phe
NM_001206846.2:c.4744A>T NP_001193775.1:p.Ile1582Phe