Canonical Allele Identifier: CA1308835
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197090081A>G
GRCh37 chr1:g.197059211A>G
Revel Score:
ENST00000367409 (MANE Select) 0.073
ENST00000294732 0.073
ENST00000367408 0.073
ENST00000367406 0.073
gnomAD v2:
1:197059211 A / G
gnomAD v3:
1:197090081 A / G
gnomAD v4:
chr1-197090081-A-G
Joint Max Group AF 0.00624708 (EAS)
Genomes Max Group AF 0.00288435 (EAS)
Exomes Max Group AF 0.00653248 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090081A>G , CM000663.2:g.197090081A>G GRCh38
NC_000001.10:g.197059211A>G , CM000663.1:g.197059211A>G GRCh37
NC_000001.9:g.195325834A>G NCBI36
NG_015867.1:g.61614T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3120T>C
ENST00000367409.9:c.9833T>C MANE Select ENSP00000356379.4:p.Val3278Ala
ENST00000680265.1:c.10055T>C ENSP00000505384.1:p.Val3352Ala
ENST00000680710.1:c.9809T>C ENSP00000506676.1:p.Val3270Ala
ENST00000294732.11:c.5078T>C ENSP00000294732.7:p.Val1693Ala
ENST00000367408.5:c.2828T>C ENSP00000356378.1:p.Val943Ala
ENST00000367409.8:c.9833T>C ENSP00000356379.4:p.Val3278Ala
ENST00000612785.1:c.3791T>C ENSP00000479244.1:p.Val1264Ala
NM_001206846.1:c.5078T>C NP_001193775.1:p.Val1693Ala
NM_018136.4:c.9833T>C NP_060606.3:p.Val3278Ala
NM_018136.5:c.9833T>C MANE Select NP_060606.3:p.Val3278Ala
NM_001206846.2:c.5078T>C NP_001193775.1:p.Val1693Ala
Search 100 bp 5'
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