Canonical Allele Identifier: CA271053
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197104027A>G
GRCh37 chr1:g.197073157A>G
Revel Score:
ENST00000367409 (MANE Select) 0.105
gnomAD v2:
1:197073157 A / G
gnomAD v3:
1:197104027 A / G
gnomAD v4:
chr1-197104027-A-G
Joint Max Group AF 0.00908336 (AMR)
Genomes Max Group AF 0.00141743 (AMR)
Exomes Max Group AF 0.01153342 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197104027A>G , CM000663.2:g.197104027A>G GRCh38
NC_000001.10:g.197073157A>G , CM000663.1:g.197073157A>G GRCh37
NC_000001.9:g.195339780A>G NCBI36
NG_015867.1:g.47668T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-7863T>C
ENST00000367409.9:c.5224T>C MANE Select ENSP00000356379.4:p.Tyr1742His
ENST00000680265.1:c.5224T>C ENSP00000505384.1:p.Tyr1742His
ENST00000680710.1:c.5224T>C ENSP00000506676.1:p.Tyr1742His
ENST00000294732.11:c.4066-7863T>C ENSP00000294732.7:n.4066-7863T>C
ENST00000367408.5:c.1816-7863T>C ENSP00000356378.1:n.1816-7863T>C
ENST00000367409.8:c.5224T>C ENSP00000356379.4:p.Tyr1742His
ENST00000612785.1:c.562-1380T>C ENSP00000479244.1:n.562-1380T>C
NM_001206846.1:c.4066-7863T>C NP_001193775.1:n.4066-7863T>C
NM_018136.4:c.5224T>C NP_060606.3:p.Tyr1742His
NM_018136.5:c.5224T>C MANE Select NP_060606.3:p.Tyr1742His
NM_001206846.2:c.4066-7863T>C NP_001193775.1:n.4066-7863T>C
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