Canonical Allele Identifier: CA1309748
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197103773T>G
GRCh37 chr1:g.197072903T>G
gnomAD v2:
1:197072903 T / G
gnomAD v3:
1:197103773 T / G
gnomAD v4:
chr1-197103773-T-G
Joint Max Group AF 0.00100752 (EAS)
Genomes Max Group AF 0.00038149 (EAS)
Exomes Max Group AF 0.00102582 (EAS)
ClinVar RCV:
RCV000337615
RCV000953432
ClinVar Variation:
294623
dbSNP:
764346876
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197103773T>G , CM000663.2:g.197103773T>G GRCh38
NC_000001.10:g.197072903T>G , CM000663.1:g.197072903T>G GRCh37
NC_000001.9:g.195339526T>G NCBI36
NG_015867.1:g.47922A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-7609A>C
ENST00000367409.9:c.5478A>C MANE Select ENSP00000356379.4:p.Ile1826=
ENST00000680265.1:c.5478A>C ENSP00000505384.1:p.Ile1826=
ENST00000680710.1:c.5478A>C ENSP00000506676.1:p.Ile1826=
ENST00000294732.11:c.4066-7609A>C ENSP00000294732.7:n.4066-7609A>C
ENST00000367408.5:c.1816-7609A>C ENSP00000356378.1:n.1816-7609A>C
ENST00000367409.8:c.5478A>C ENSP00000356379.4:p.Ile1826=
ENST00000612785.1:c.562-1126A>C ENSP00000479244.1:n.562-1126A>C
NM_001206846.1:c.4066-7609A>C NP_001193775.1:n.4066-7609A>C
NM_018136.4:c.5478A>C NP_060606.3:p.Ile1826=
NM_018136.5:c.5478A>C MANE Select NP_060606.3:p.Ile1826=
NM_001206846.2:c.4066-7609A>C NP_001193775.1:n.4066-7609A>C
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