Canonical Allele Identifier: CA209608
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197103304T>A
GRCh37 chr1:g.197072434T>A
Revel Score:
ENST00000367409 (MANE Select) 0.234
gnomAD v2:
1:197072434 T / A
gnomAD v3:
1:197103304 T / A
gnomAD v4:
chr1-197103304-T-A
Joint Max Group AF 0.00221857 (NFE)
Genomes Max Group AF 0.00166075 (NFE)
Exomes Max Group AF 0.00223806 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197103304T>A , CM000663.2:g.197103304T>A GRCh38
NC_000001.10:g.197072434T>A , CM000663.1:g.197072434T>A GRCh37
NC_000001.9:g.195339057T>A NCBI36
NG_015867.1:g.48391A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-7140A>T
ENST00000367409.9:c.5947A>T MANE Select ENSP00000356379.4:p.Met1983Leu
ENST00000680265.1:c.5947A>T ENSP00000505384.1:p.Met1983Leu
ENST00000680710.1:c.5947A>T ENSP00000506676.1:p.Met1983Leu
ENST00000294732.11:c.4066-7140A>T ENSP00000294732.7:n.4066-7140A>T
ENST00000367408.5:c.1816-7140A>T ENSP00000356378.1:n.1816-7140A>T
ENST00000367409.8:c.5947A>T ENSP00000356379.4:p.Met1983Leu
ENST00000612785.1:c.562-657A>T ENSP00000479244.1:n.562-657A>T
NM_001206846.1:c.4066-7140A>T NP_001193775.1:n.4066-7140A>T
NM_018136.4:c.5947A>T NP_060606.3:p.Met1983Leu
NM_018136.5:c.5947A>T MANE Select NP_060606.3:p.Met1983Leu
NM_001206846.2:c.4066-7140A>T NP_001193775.1:n.4066-7140A>T
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