Canonical Allele Identifier: CA343998720
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs1453744435

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088414C>T , CM000663.2:g.197088414C>T GRCh38
NC_000001.10:g.197057544C>T , CM000663.1:g.197057544C>T GRCh37
NC_000001.9:g.195324167C>T NCBI36
NG_015867.1:g.63281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3290G>A
ENST00000367409.9:c.10003G>A MANE Select ENSP00000356379.4:p.Ala3335Thr
ENST00000680265.1:c.10225G>A ENSP00000505384.1:p.Ala3409Thr
ENST00000680710.1:c.9979G>A ENSP00000506676.1:p.Ala3327Thr
ENST00000294732.11:c.5248G>A ENSP00000294732.7:p.Ala1750Thr
ENST00000367408.5:c.2998G>A ENSP00000356378.1:p.Ala1000Thr
ENST00000367409.8:c.10003G>A ENSP00000356379.4:p.Ala3335Thr
ENST00000612785.1:c.3961G>A ENSP00000479244.1:p.Ala1321Thr
NM_001206846.1:c.5248G>A NP_001193775.1:p.Ala1750Thr
NM_018136.4:c.10003G>A NP_060606.3:p.Ala3335Thr
NM_018136.5:c.10003G>A MANE Select NP_060606.3:p.Ala3335Thr
NM_001206846.2:c.5248G>A NP_001193775.1:p.Ala1750Thr