Canonical Allele Identifier: CA271124
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197143408T>G
GRCh37 chr1:g.197112538T>G
Revel Score:
ENST00000367409 (MANE Select) 0.022
ENST00000294732 0.022
gnomAD v2:
1:197112538 T / G
gnomAD v3:
1:197143408 T / G
gnomAD v4:
chr1-197143408-T-G
Joint Max Group AF 0.01699913 (EAS)
Genomes Max Group AF 0.01692595 (EAS)
Exomes Max Group AF 0.01667937 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197143408T>G , CM000663.2:g.197143408T>G GRCh38
NC_000001.10:g.197112538T>G , CM000663.1:g.197112538T>G GRCh37
NC_000001.9:g.195379161T>G NCBI36
NG_015867.1:g.8287A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.844A>C MANE Select ENSP00000356379.4:p.Asn282His
ENST00000679766.1:n.1061A>C
ENST00000680265.1:c.844A>C ENSP00000505384.1:p.Asn282His
ENST00000680710.1:c.844A>C ENSP00000506676.1:p.Asn282His
ENST00000681879.1:c.844A>C ENSP00000505363.1:p.Asn282His
ENST00000294732.11:c.844A>C ENSP00000294732.7:p.Asn282His
ENST00000367409.8:c.844A>C ENSP00000356379.4:p.Asn282His
ENST00000612785.1:c.561+283A>C ENSP00000479244.1:n.561+283A>C
NM_001206846.1:c.844A>C NP_001193775.1:p.Asn282His
NM_018136.4:c.844A>C NP_060606.3:p.Asn282His
NM_018136.5:c.844A>C MANE Select NP_060606.3:p.Asn282His
NM_001206846.2:c.844A>C NP_001193775.1:p.Asn282His
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