Canonical Allele Identifier: CA1308707
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197084342C>T
GRCh37 chr1:g.197053472C>T
gnomAD v2:
1:197053472 C / T
gnomAD v3:
1:197084342 C / T
gnomAD v4:
chr1-197084342-C-T
Joint Max Group AF 0.00021849 (NFE)
Genomes Max Group AF 0.00013512 (NFE)
Exomes Max Group AF 0.00021921 (NFE)
ClinVar RCV:
RCV000313676
RCV002059412
ClinVar Variation:
294592
dbSNP:
150108952
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197084342C>T , CM000663.2:g.197084342C>T GRCh38
NC_000001.10:g.197053472C>T , CM000663.1:g.197053472C>T GRCh37
NC_000001.9:g.195320095C>T NCBI36
NG_015867.1:g.67353G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3703G>A
ENST00000367409.9:c.10416G>A MANE Select ENSP00000356379.4:p.Thr3472=
ENST00000680265.1:c.10638G>A ENSP00000505384.1:p.Thr3546=
ENST00000680710.1:c.10392G>A ENSP00000506676.1:p.Thr3464=
ENST00000294732.11:c.5661G>A ENSP00000294732.7:p.Thr1887=
ENST00000367408.5:c.3411G>A ENSP00000356378.1:p.Thr1137=
ENST00000367409.8:c.10416G>A ENSP00000356379.4:p.Thr3472=
NM_001206846.1:c.5661G>A NP_001193775.1:p.Thr1887=
NM_018136.4:c.10416G>A NP_060606.3:p.Thr3472=
NM_018136.5:c.10416G>A MANE Select NP_060606.3:p.Thr3472=
NM_001206846.2:c.5661G>A NP_001193775.1:p.Thr1887=
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