Canonical Allele Identifier: CA171267
Gene: ASPM HGNC NCBI
COSMIC:
COSM3750734 (not active)
MyVariant.info:
GRCh38 chr1:g.197101312G>T
GRCh37 chr1:g.197070442G>T
Revel Score:
ENST00000367409 (MANE Select) 0.203
ENST00000367406 0.203
gnomAD v2:
1:197070442 G / T
gnomAD v3:
1:197101312 G / T
gnomAD v4:
chr1-197101312-G-T
Joint Max Group AF 0.43200931 (NFE)
Genomes Max Group AF 0.43196853 (NFE)
Exomes Max Group AF 0.4317886 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197101312G>T , CM000663.2:g.197101312G>T GRCh38
NC_000001.10:g.197070442G>T , CM000663.1:g.197070442G>T GRCh37
NC_000001.9:g.195337065G>T NCBI36
NG_015867.1:g.50383C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-5148C>A
ENST00000367409.9:c.7939C>A MANE Select ENSP00000356379.4:p.Leu2647Ile
ENST00000680265.1:c.7939C>A ENSP00000505384.1:p.Leu2647Ile
ENST00000680710.1:c.7939C>A ENSP00000506676.1:p.Leu2647Ile
ENST00000294732.11:c.4066-5148C>A ENSP00000294732.7:n.4066-5148C>A
ENST00000367408.5:c.1816-5148C>A ENSP00000356378.1:n.1816-5148C>A
ENST00000367409.8:c.7939C>A ENSP00000356379.4:p.Leu2647Ile
ENST00000612785.1:c.1897C>A ENSP00000479244.1:p.Leu633Ile
NM_001206846.1:c.4066-5148C>A NP_001193775.1:n.4066-5148C>A
NM_018136.4:c.7939C>A NP_060606.3:p.Leu2647Ile
NM_018136.5:c.7939C>A MANE Select NP_060606.3:p.Leu2647Ile
NM_001206846.2:c.4066-5148C>A NP_001193775.1:n.4066-5148C>A
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