Canonical Allele Identifier: CA271049
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197104190T>C
GRCh37 chr1:g.197073320T>C
gnomAD v2:
1:197073320 T / C
gnomAD v3:
1:197104190 T / C
gnomAD v4:
chr1-197104190-T-C
Joint Max Group AF 0.00038918 (AMR)
Genomes Max Group AF 0.00045506 (AMR)
Exomes Max Group AF 0.00029704 (AMR)
ClinVar RCV:
RCV000145136
RCV000895490
ClinVar Variation:
157826
dbSNP:
587783246
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197104190T>C , CM000663.2:g.197104190T>C GRCh38
NC_000001.10:g.197073320T>C , CM000663.1:g.197073320T>C GRCh37
NC_000001.9:g.195339943T>C NCBI36
NG_015867.1:g.47505A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-8026A>G
ENST00000367409.9:c.5061A>G MANE Select ENSP00000356379.4:p.Ser1687=
ENST00000680265.1:c.5061A>G ENSP00000505384.1:p.Ser1687=
ENST00000680710.1:c.5061A>G ENSP00000506676.1:p.Ser1687=
ENST00000294732.11:c.4066-8026A>G ENSP00000294732.7:n.4066-8026A>G
ENST00000367408.5:c.1816-8026A>G ENSP00000356378.1:n.1816-8026A>G
ENST00000367409.8:c.5061A>G ENSP00000356379.4:p.Ser1687=
ENST00000612785.1:c.562-1543A>G ENSP00000479244.1:n.562-1543A>G
NM_001206846.1:c.4066-8026A>G NP_001193775.1:n.4066-8026A>G
NM_018136.4:c.5061A>G NP_060606.3:p.Ser1687=
NM_018136.5:c.5061A>G MANE Select NP_060606.3:p.Ser1687=
NM_001206846.2:c.4066-8026A>G NP_001193775.1:n.4066-8026A>G
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