Canonical Allele Identifier: CA1309207
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 1429851
ClinVar RCV Id: RCV001967357
dbSNP Id: rs373023853

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197100726C>T , CM000663.2:g.197100726C>T GRCh38
NC_000001.10:g.197069856C>T , CM000663.1:g.197069856C>T GRCh37
NC_000001.9:g.195336479C>T NCBI36
NG_015867.1:g.50969G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-4562G>A
ENST00000367409.9:c.8525G>A MANE Select ENSP00000356379.4:p.Arg2842Gln
ENST00000680265.1:c.8525G>A ENSP00000505384.1:p.Arg2842Gln
ENST00000680710.1:c.8525G>A ENSP00000506676.1:p.Arg2842Gln
ENST00000294732.11:c.4066-4562G>A ENSP00000294732.7:n.4066-4562G>A
ENST00000367408.5:c.1816-4562G>A ENSP00000356378.1:n.1816-4562G>A
ENST00000367409.8:c.8525G>A ENSP00000356379.4:p.Arg2842Gln
ENST00000612785.1:c.2483G>A ENSP00000479244.1:p.Arg828Gln
NM_001206846.1:c.4066-4562G>A NP_001193775.1:n.4066-4562G>A
NM_018136.4:c.8525G>A NP_060606.3:p.Arg2842Gln
NM_018136.5:c.8525G>A MANE Select NP_060606.3:p.Arg2842Gln
NM_001206846.2:c.4066-4562G>A NP_001193775.1:n.4066-4562G>A