Canonical Allele Identifier: CA1217946541
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197143348A= , CM000663.2:g.197143348A= GRCh38
NC_000001.10:g.197112478A= , CM000663.1:g.197112478A= GRCh37
NC_000001.9:g.195379101A= NCBI36
NG_015867.1:g.8347T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.904T= MANE Select ENSP00000356379.4:p.Cys302=
ENST00000679766.1:n.1121T=
ENST00000680265.1:c.904T= ENSP00000505384.1:p.Cys302=
ENST00000680710.1:c.904T= ENSP00000506676.1:p.Cys302=
ENST00000681879.1:c.904T= ENSP00000505363.1:p.Cys302=
ENST00000294732.11:c.904T= ENSP00000294732.7:p.Cys302=
ENST00000367409.8:c.904T= ENSP00000356379.4:p.Cys302=
ENST00000612785.1:c.561+343T= ENSP00000479244.1:n.561+343T=
NM_001206846.1:c.904T= NP_001193775.1:p.Cys302=
NM_018136.4:c.904T= NP_060606.3:p.Cys302=
NM_018136.5:c.904T= MANE Select NP_060606.3:p.Cys302=
NM_001206846.2:c.904T= NP_001193775.1:p.Cys302=