Canonical Allele Identifier: CA271122
Gene: ASPM HGNC NCBI
COSMIC:
COSM6351759 (not active)
MyVariant.info:
GRCh38 chr1:g.197100802C>A
GRCh37 chr1:g.197069932C>A
Revel Score:
ENST00000367409 (MANE Select) 0.177
ENST00000367406 0.177
gnomAD v2:
1:197069932 C / A
gnomAD v3:
1:197100802 C / A
gnomAD v4:
chr1-197100802-C-A
Joint Max Group AF 0.01578966 (EAS)
Genomes Max Group AF 0.02017323 (EAS)
Exomes Max Group AF 0.0148768 (EAS)
ClinVar RCV:
RCV000145213
RCV000907959
ClinVar Variation:
157892
dbSNP:
117963393
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197100802C>A , CM000663.2:g.197100802C>A GRCh38
NC_000001.10:g.197069932C>A , CM000663.1:g.197069932C>A GRCh37
NC_000001.9:g.195336555C>A NCBI36
NG_015867.1:g.50893G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-4638G>T
ENST00000367409.9:c.8449G>T MANE Select ENSP00000356379.4:p.Ala2817Ser
ENST00000680265.1:c.8449G>T ENSP00000505384.1:p.Ala2817Ser
ENST00000680710.1:c.8449G>T ENSP00000506676.1:p.Ala2817Ser
ENST00000294732.11:c.4066-4638G>T ENSP00000294732.7:n.4066-4638G>T
ENST00000367408.5:c.1816-4638G>T ENSP00000356378.1:n.1816-4638G>T
ENST00000367409.8:c.8449G>T ENSP00000356379.4:p.Ala2817Ser
ENST00000612785.1:c.2407G>T ENSP00000479244.1:p.Ala803Ser
NM_001206846.1:c.4066-4638G>T NP_001193775.1:n.4066-4638G>T
NM_018136.4:c.8449G>T NP_060606.3:p.Ala2817Ser
NM_018136.5:c.8449G>T MANE Select NP_060606.3:p.Ala2817Ser
NM_001206846.2:c.4066-4638G>T NP_001193775.1:n.4066-4638G>T
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