Canonical Allele Identifier: CA344003624
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197091017C>A , CM000663.2:g.197091017C>A GRCh38
NC_000001.10:g.197060147C>A , CM000663.1:g.197060147C>A GRCh37
NC_000001.9:g.195326770C>A NCBI36
NG_015867.1:g.60678G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2756G>T
ENST00000367409.9:c.9469G>T MANE Select ENSP00000356379.4:p.Glu3157Ter
ENST00000680265.1:c.9691G>T ENSP00000505384.1:p.Glu3231Ter
ENST00000680710.1:c.9445G>T ENSP00000506676.1:p.Glu3149Ter
ENST00000294732.11:c.4714G>T ENSP00000294732.7:p.Glu1572Ter
ENST00000367408.5:c.2464G>T ENSP00000356378.1:p.Glu822Ter
ENST00000367409.8:c.9469G>T ENSP00000356379.4:p.Glu3157Ter
ENST00000612785.1:c.3427G>T ENSP00000479244.1:p.Glu1143Ter
NM_001206846.1:c.4714G>T NP_001193775.1:p.Glu1572Ter
NM_018136.4:c.9469G>T NP_060606.3:p.Glu3157Ter
NM_018136.5:c.9469G>T MANE Select NP_060606.3:p.Glu3157Ter
NM_001206846.2:c.4714G>T NP_001193775.1:p.Glu1572Ter