Canonical Allele Identifier: CA344018811
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197143409A>T , CM000663.2:g.197143409A>T GRCh38
NC_000001.10:g.197112539A>T , CM000663.1:g.197112539A>T GRCh37
NC_000001.9:g.195379162A>T NCBI36
NG_015867.1:g.8286T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.843T>A MANE Select ENSP00000356379.4:p.Phe281Leu
ENST00000679766.1:n.1060T>A
ENST00000680265.1:c.843T>A ENSP00000505384.1:p.Phe281Leu
ENST00000680710.1:c.843T>A ENSP00000506676.1:p.Phe281Leu
ENST00000681879.1:c.843T>A ENSP00000505363.1:p.Phe281Leu
ENST00000294732.11:c.843T>A ENSP00000294732.7:p.Phe281Leu
ENST00000367409.8:c.843T>A ENSP00000356379.4:p.Phe281Leu
ENST00000612785.1:c.561+282T>A ENSP00000479244.1:n.561+282T>A
NM_001206846.1:c.843T>A NP_001193775.1:p.Phe281Leu
NM_018136.4:c.843T>A NP_060606.3:p.Phe281Leu
NM_018136.5:c.843T>A MANE Select NP_060606.3:p.Phe281Leu
NM_001206846.2:c.843T>A NP_001193775.1:p.Phe281Leu