Canonical Allele Identifier: CA1308829
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197090024G>T
GRCh37 chr1:g.197059154G>T
Revel Score:
ENST00000367409 (MANE Select) 0.124
ENST00000294732 0.124
ENST00000367408 0.124
ENST00000367406 0.124
gnomAD v2:
1:197059154 G / T
gnomAD v3:
1:197090024 G / T
gnomAD v4:
chr1-197090024-G-T
Joint Max Group AF 0.00006624 (AMR)
Genomes Max Group AF 0.00005854 (NFE)
Exomes Max Group AF 0.0000436 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090024G>T , CM000663.2:g.197090024G>T GRCh38
NC_000001.10:g.197059154G>T , CM000663.1:g.197059154G>T GRCh37
NC_000001.9:g.195325777G>T NCBI36
NG_015867.1:g.61671C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3177C>A
ENST00000367409.9:c.9890C>A MANE Select ENSP00000356379.4:p.Ser3297Tyr
ENST00000680265.1:c.10112C>A ENSP00000505384.1:p.Ser3371Tyr
ENST00000680710.1:c.9866C>A ENSP00000506676.1:p.Ser3289Tyr
ENST00000294732.11:c.5135C>A ENSP00000294732.7:p.Ser1712Tyr
ENST00000367408.5:c.2885C>A ENSP00000356378.1:p.Ser962Tyr
ENST00000367409.8:c.9890C>A ENSP00000356379.4:p.Ser3297Tyr
ENST00000612785.1:c.3848C>A ENSP00000479244.1:p.Ser1283Tyr
NM_001206846.1:c.5135C>A NP_001193775.1:p.Ser1712Tyr
NM_018136.4:c.9890C>A NP_060606.3:p.Ser3297Tyr
NM_018136.5:c.9890C>A MANE Select NP_060606.3:p.Ser3297Tyr
NM_001206846.2:c.5135C>A NP_001193775.1:p.Ser1712Tyr
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