Canonical Allele Identifier: CA271114
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197101217G>T
GRCh37 chr1:g.197070347G>T
gnomAD v2:
1:197070347 G / T
gnomAD v3:
1:197101217 G / T
gnomAD v4:
chr1-197101217-G-T
Joint Max Group AF 0.00002748 (NFE)
Genomes Max Group AF 0.00001174 (NFE)
Exomes Max Group AF 0.00002713 (NFE)
ClinVar RCV:
RCV000145207
RCV002514796
ClinVar Variation:
157886
dbSNP:
587783276
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197101217G>T , CM000663.2:g.197101217G>T GRCh38
NC_000001.10:g.197070347G>T , CM000663.1:g.197070347G>T GRCh37
NC_000001.9:g.195336970G>T NCBI36
NG_015867.1:g.50478C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-5053C>A
ENST00000367409.9:c.8034C>A MANE Select ENSP00000356379.4:p.Gly2678=
ENST00000680265.1:c.8034C>A ENSP00000505384.1:p.Gly2678=
ENST00000680710.1:c.8034C>A ENSP00000506676.1:p.Gly2678=
ENST00000294732.11:c.4066-5053C>A ENSP00000294732.7:n.4066-5053C>A
ENST00000367408.5:c.1816-5053C>A ENSP00000356378.1:n.1816-5053C>A
ENST00000367409.8:c.8034C>A ENSP00000356379.4:p.Gly2678=
ENST00000612785.1:c.1992C>A ENSP00000479244.1:p.Gly664=
NM_001206846.1:c.4066-5053C>A NP_001193775.1:n.4066-5053C>A
NM_018136.4:c.8034C>A NP_060606.3:p.Gly2678=
NM_018136.5:c.8034C>A MANE Select NP_060606.3:p.Gly2678=
NM_001206846.2:c.4066-5053C>A NP_001193775.1:n.4066-5053C>A
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