Canonical Allele Identifier: CA208398
Gene: ASPM HGNC NCBI
ClinVar RCV:
RCV000194304
RCV001101703
RCV001550843
ClinVar Variation:
210340
dbSNP:
41265225
gnomAD v2:
1:197053296 A / G
gnomAD v3:
1:197084166 A / G
gnomAD v4:
chr1-197084166-A-G
Joint Max Group AF 0.0135744 (NFE)
Genomes Max Group AF 0.01260311 (NFE)
Exomes Max Group AF 0.01367311 (NFE)
MyVariant.info:
GRCh38 chr1:g.197084166A>G
GRCh37 chr1:g.197053296A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197084166A>G , CM000663.2:g.197084166A>G GRCh38
NC_000001.10:g.197053296A>G , CM000663.1:g.197053296A>G GRCh37
NC_000001.9:g.195319919A>G NCBI36
NG_015867.1:g.67529T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3879T>C
ENST00000367409.9:c.*158T>C MANE Select ENSP00000356379.4:n.*158T>C
ENST00000680265.1:c.*158T>C ENSP00000505384.1:n.*158T>C
ENST00000294732.11:c.*158T>C ENSP00000294732.7:n.*158T>C
ENST00000367408.5:c.*158T>C ENSP00000356378.1:n.*158T>C
ENST00000367409.8:c.*158T>C ENSP00000356379.4:n.*158T>C
NM_001206846.1:c.*158T>C NP_001193775.1:n.*158T>C
NM_018136.4:c.*158T>C NP_060606.3:n.*158T>C
NM_018136.5:c.*158T>C MANE Select NP_060606.3:n.*158T>C
NM_001206846.2:c.*158T>C NP_001193775.1:n.*158T>C
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