Canonical Allele Identifier: CA202013
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197090003C>T
GRCh37 chr1:g.197059133C>T
Revel Score:
ENST00000367409 (MANE Select) 0.101
ENST00000294732 0.101
ENST00000367408 0.101
ENST00000367406 0.101
gnomAD v2:
1:197059133 C / T
gnomAD v3:
1:197090003 C / T
gnomAD v4:
chr1-197090003-C-T
Joint Max Group AF 0.00186485 (AFR)
Genomes Max Group AF 0.00200627 (AFR)
Exomes Max Group AF 0.00145695 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090003C>T , CM000663.2:g.197090003C>T GRCh38
NC_000001.10:g.197059133C>T , CM000663.1:g.197059133C>T GRCh37
NC_000001.9:g.195325756C>T NCBI36
NG_015867.1:g.61692G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3198G>A
ENST00000367409.9:c.9911G>A MANE Select ENSP00000356379.4:p.Arg3304Gln
ENST00000680265.1:c.10133G>A ENSP00000505384.1:p.Arg3378Gln
ENST00000680710.1:c.9887G>A ENSP00000506676.1:p.Arg3296Gln
ENST00000294732.11:c.5156G>A ENSP00000294732.7:p.Arg1719Gln
ENST00000367408.5:c.2906G>A ENSP00000356378.1:p.Arg969Gln
ENST00000367409.8:c.9911G>A ENSP00000356379.4:p.Arg3304Gln
ENST00000612785.1:c.3869G>A ENSP00000479244.1:p.Arg1290Gln
NM_001206846.1:c.5156G>A NP_001193775.1:p.Arg1719Gln
NM_018136.4:c.9911G>A NP_060606.3:p.Arg3304Gln
NM_018136.5:c.9911G>A MANE Select NP_060606.3:p.Arg3304Gln
NM_001206846.2:c.5156G>A NP_001193775.1:p.Arg1719Gln
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