Canonical Allele Identifier: CA1309447
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197102094T>C
GRCh37 chr1:g.197071224T>C
Revel Score:
ENST00000367409 (MANE Select) 0.015
ENST00000367406 0.015
gnomAD v2:
1:197071224 T / C
gnomAD v3:
1:197102094 T / C
gnomAD v4:
chr1-197102094-T-C
Joint Max Group AF 0.00042822 (NFE)
Genomes Max Group AF 0.00034324 (NFE)
Exomes Max Group AF 0.00042649 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197102094T>C , CM000663.2:g.197102094T>C GRCh38
NC_000001.10:g.197071224T>C , CM000663.1:g.197071224T>C GRCh37
NC_000001.9:g.195337847T>C NCBI36
NG_015867.1:g.49601A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-5930A>G
ENST00000367409.9:c.7157A>G MANE Select ENSP00000356379.4:p.His2386Arg
ENST00000680265.1:c.7157A>G ENSP00000505384.1:p.His2386Arg
ENST00000680710.1:c.7157A>G ENSP00000506676.1:p.His2386Arg
ENST00000294732.11:c.4066-5930A>G ENSP00000294732.7:n.4066-5930A>G
ENST00000367408.5:c.1816-5930A>G ENSP00000356378.1:n.1816-5930A>G
ENST00000367409.8:c.7157A>G ENSP00000356379.4:p.His2386Arg
ENST00000612785.1:c.1115A>G ENSP00000479244.1:p.His372Arg
NM_001206846.1:c.4066-5930A>G NP_001193775.1:n.4066-5930A>G
NM_018136.4:c.7157A>G NP_060606.3:p.His2386Arg
NM_018136.5:c.7157A>G MANE Select NP_060606.3:p.His2386Arg
NM_001206846.2:c.4066-5930A>G NP_001193775.1:n.4066-5930A>G
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