Canonical Allele Identifier: CA344003652
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197091020G>A , CM000663.2:g.197091020G>A GRCh38
NC_000001.10:g.197060150G>A , CM000663.1:g.197060150G>A GRCh37
NC_000001.9:g.195326773G>A NCBI36
NG_015867.1:g.60675C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2753C>T
ENST00000367409.9:c.9466C>T MANE Select ENSP00000356379.4:p.Gln3156Ter
ENST00000680265.1:c.9688C>T ENSP00000505384.1:p.Gln3230Ter
ENST00000680710.1:c.9442C>T ENSP00000506676.1:p.Gln3148Ter
ENST00000294732.11:c.4711C>T ENSP00000294732.7:p.Gln1571Ter
ENST00000367408.5:c.2461C>T ENSP00000356378.1:p.Gln821Ter
ENST00000367409.8:c.9466C>T ENSP00000356379.4:p.Gln3156Ter
ENST00000612785.1:c.3424C>T ENSP00000479244.1:p.Gln1142Ter
NM_001206846.1:c.4711C>T NP_001193775.1:p.Gln1571Ter
NM_018136.4:c.9466C>T NP_060606.3:p.Gln3156Ter
NM_018136.5:c.9466C>T MANE Select NP_060606.3:p.Gln3156Ter
NM_001206846.2:c.4711C>T NP_001193775.1:p.Gln1571Ter