Canonical Allele Identifier: CA1309808
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 2072672
ClinVar RCV Id: RCV002967278
dbSNP Id: rs143911853

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197104114G>A , CM000663.2:g.197104114G>A GRCh38
NC_000001.10:g.197073244G>A , CM000663.1:g.197073244G>A GRCh37
NC_000001.9:g.195339867G>A NCBI36
NG_015867.1:g.47581C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-7950C>T
ENST00000367409.9:c.5137C>T MANE Select ENSP00000356379.4:p.Arg1713Cys
ENST00000680265.1:c.5137C>T ENSP00000505384.1:p.Arg1713Cys
ENST00000680710.1:c.5137C>T ENSP00000506676.1:p.Arg1713Cys
ENST00000294732.11:c.4066-7950C>T ENSP00000294732.7:n.4066-7950C>T
ENST00000367408.5:c.1816-7950C>T ENSP00000356378.1:n.1816-7950C>T
ENST00000367409.8:c.5137C>T ENSP00000356379.4:p.Arg1713Cys
ENST00000612785.1:c.562-1467C>T ENSP00000479244.1:n.562-1467C>T
NM_001206846.1:c.4066-7950C>T NP_001193775.1:n.4066-7950C>T
NM_018136.4:c.5137C>T NP_060606.3:p.Arg1713Cys
NM_018136.5:c.5137C>T MANE Select NP_060606.3:p.Arg1713Cys
NM_001206846.2:c.4066-7950C>T NP_001193775.1:n.4066-7950C>T