Canonical Allele Identifier: CA344018899
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197143429C>T , CM000663.2:g.197143429C>T GRCh38
NC_000001.10:g.197112559C>T , CM000663.1:g.197112559C>T GRCh37
NC_000001.9:g.195379182C>T NCBI36
NG_015867.1:g.8266G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.823G>A MANE Select ENSP00000356379.4:p.Ala275Thr
ENST00000679766.1:n.1040G>A
ENST00000680265.1:c.823G>A ENSP00000505384.1:p.Ala275Thr
ENST00000680710.1:c.823G>A ENSP00000506676.1:p.Ala275Thr
ENST00000681879.1:c.823G>A ENSP00000505363.1:p.Ala275Thr
ENST00000294732.11:c.823G>A ENSP00000294732.7:p.Ala275Thr
ENST00000367409.8:c.823G>A ENSP00000356379.4:p.Ala275Thr
ENST00000612785.1:c.561+262G>A ENSP00000479244.1:n.561+262G>A
NM_001206846.1:c.823G>A NP_001193775.1:p.Ala275Thr
NM_018136.4:c.823G>A NP_060606.3:p.Ala275Thr
NM_018136.5:c.823G>A MANE Select NP_060606.3:p.Ala275Thr
NM_001206846.2:c.823G>A NP_001193775.1:p.Ala275Thr