Canonical Allele Identifier: CA10608698
Community Standard Title: NM_018136.5(ASPM):c.10095C>T (p.Gly3365=)
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088322G>A , CM000663.2:g.197088322G>A GRCh38
NC_000001.10:g.197057452G>A , CM000663.1:g.197057452G>A GRCh37
NC_000001.9:g.195324075G>A NCBI36
NG_015867.1:g.63373C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018136.5:c.10095C>T MANE Select NP_060606.3:p.Gly3365=
ENST00000367409.9:c.10095C>T MANE Select ENSP00000356379.4:p.Gly3365=
NM_001206846.1:c.5340C>T NP_001193775.1:p.Gly1780=
NM_001206846.2:c.5340C>T NP_001193775.1:p.Gly1780=
NM_018136.4:c.10095C>T NP_060606.3:p.Gly3365=
ENST00000294732.11:c.5340C>T ENSP00000294732.7:p.Gly1780=
ENST00000367408.5:c.3090C>T ENSP00000356378.1:p.Gly1030=
ENST00000367408.6:n.3382C>T
ENST00000367409.8:c.10095C>T ENSP00000356379.4:p.Gly3365=
ENST00000612785.1:c.4053C>T ENSP00000479244.1:p.Gly1351=
ENST00000680265.1:c.10317C>T ENSP00000505384.1:p.Gly3439=
ENST00000680710.1:c.10071C>T ENSP00000506676.1:p.Gly3357=