Canonical Allele Identifier: CA171171
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197086795T>C
GRCh37 chr1:g.197055925T>C
gnomAD v2:
1:197055925 T / C
gnomAD v3:
1:197086795 T / C
gnomAD v4:
chr1-197086795-T-C
Joint Max Group AF 0.99190836 (EAS)
Genomes Max Group AF 0.97642188 (EAS)
Exomes Max Group AF 0.99147652 (EAS)
ClinVar Allele:
167622
ClinVar RCV:
RCV000145076
RCV000606840
RCV000710079
ClinVar Variation:
157775
dbSNP:
10754213
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197086795T>C , CM000663.2:g.197086795T>C GRCh38
NC_000001.10:g.197055925T>C , CM000663.1:g.197055925T>C GRCh37
NC_000001.9:g.195322548T>C NCBI36
NG_015867.1:g.64900A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3618+8A>G
ENST00000367409.9:c.10331+8A>G MANE Select ENSP00000356379.4:n.10331+8A>G
ENST00000680265.1:c.10553+8A>G ENSP00000505384.1:n.10553+8A>G
ENST00000680710.1:c.10307+8A>G ENSP00000506676.1:n.10307+8A>G
ENST00000294732.11:c.5576+8A>G ENSP00000294732.7:n.5576+8A>G
ENST00000367408.5:c.3326+8A>G ENSP00000356378.1:n.3326+8A>G
ENST00000367409.8:c.10331+8A>G ENSP00000356379.4:n.10331+8A>G
NM_001206846.1:c.5576+8A>G NP_001193775.1:n.5576+8A>G
NM_018136.4:c.10331+8A>G NP_060606.3:n.10331+8A>G
NM_018136.5:c.10331+8A>G MANE Select NP_060606.3:n.10331+8A>G
NM_001206846.2:c.5576+8A>G NP_001193775.1:n.5576+8A>G
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