Canonical Allele Identifier: CA271047
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197104518C>T
GRCh37 chr1:g.197073648C>T
Revel Score:
ENST00000367409 (MANE Select) 0.258
gnomAD v2:
1:197073648 C / T
gnomAD v3:
1:197104518 C / T
gnomAD v4:
chr1-197104518-C-T
Joint Max Group AF 0.00421605 (AFR)
Genomes Max Group AF 0.0041796 (AFR)
Exomes Max Group AF 0.00390296 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197104518C>T , CM000663.2:g.197104518C>T GRCh38
NC_000001.10:g.197073648C>T , CM000663.1:g.197073648C>T GRCh37
NC_000001.9:g.195340271C>T NCBI36
NG_015867.1:g.47177G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-8354G>A
ENST00000367409.9:c.4733G>A MANE Select ENSP00000356379.4:p.Arg1578Gln
ENST00000680265.1:c.4733G>A ENSP00000505384.1:p.Arg1578Gln
ENST00000680710.1:c.4733G>A ENSP00000506676.1:p.Arg1578Gln
ENST00000294732.11:c.4066-8354G>A ENSP00000294732.7:n.4066-8354G>A
ENST00000367408.5:c.1816-8354G>A ENSP00000356378.1:n.1816-8354G>A
ENST00000367409.8:c.4733G>A ENSP00000356379.4:p.Arg1578Gln
ENST00000612785.1:c.562-1871G>A ENSP00000479244.1:n.562-1871G>A
NM_001206846.1:c.4066-8354G>A NP_001193775.1:n.4066-8354G>A
NM_018136.4:c.4733G>A NP_060606.3:p.Arg1578Gln
NM_018136.5:c.4733G>A MANE Select NP_060606.3:p.Arg1578Gln
NM_001206846.2:c.4066-8354G>A NP_001193775.1:n.4066-8354G>A
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