Canonical Allele Identifier: CA1309319
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 1955028
ClinVar RCV Id: RCV002690380
dbSNP Id: rs759472166

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197101347C>T , CM000663.2:g.197101347C>T GRCh38
NC_000001.10:g.197070477C>T , CM000663.1:g.197070477C>T GRCh37
NC_000001.9:g.195337100C>T NCBI36
NG_015867.1:g.50348G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-5183G>A
ENST00000367409.9:c.7904G>A MANE Select ENSP00000356379.4:p.Cys2635Tyr
ENST00000680265.1:c.7904G>A ENSP00000505384.1:p.Cys2635Tyr
ENST00000680710.1:c.7904G>A ENSP00000506676.1:p.Cys2635Tyr
ENST00000294732.11:c.4066-5183G>A ENSP00000294732.7:n.4066-5183G>A
ENST00000367408.5:c.1816-5183G>A ENSP00000356378.1:n.1816-5183G>A
ENST00000367409.8:c.7904G>A ENSP00000356379.4:p.Cys2635Tyr
ENST00000612785.1:c.1862G>A ENSP00000479244.1:p.Cys621Tyr
NM_001206846.1:c.4066-5183G>A NP_001193775.1:n.4066-5183G>A
NM_018136.4:c.7904G>A NP_060606.3:p.Cys2635Tyr
NM_018136.5:c.7904G>A MANE Select NP_060606.3:p.Cys2635Tyr
NM_001206846.2:c.4066-5183G>A NP_001193775.1:n.4066-5183G>A