Canonical Allele Identifier: CA358236
Gene: ASPM HGNC NCBI
ClinVar RCV:
RCV000210715
RCV000328675
RCV001289245
RCV002054357
ClinVar Variation:
225111
dbSNP:
142378871
gnomAD v2:
1:197072563 G / C
gnomAD v3:
1:197103433 G / C
gnomAD v4:
chr1-197103433-G-C
Joint Max Group AF 0.00002314 (NFE)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00002371 (NFE)
MyVariant.info:
GRCh38 chr1:g.197103433G>C
GRCh37 chr1:g.197072563G>C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197103433G>C , CM000663.2:g.197103433G>C GRCh38
NC_000001.10:g.197072563G>C , CM000663.1:g.197072563G>C GRCh37
NC_000001.9:g.195339186G>C NCBI36
NG_015867.1:g.48262C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-7269C>G
ENST00000367409.9:c.5818C>G MANE Select ENSP00000356379.4:p.Gln1940Glu
ENST00000680265.1:c.5818C>G ENSP00000505384.1:p.Gln1940Glu
ENST00000680710.1:c.5818C>G ENSP00000506676.1:p.Gln1940Glu
ENST00000294732.11:c.4066-7269C>G ENSP00000294732.7:n.4066-7269C>G
ENST00000367408.5:c.1816-7269C>G ENSP00000356378.1:n.1816-7269C>G
ENST00000367409.8:c.5818C>G ENSP00000356379.4:p.Gln1940Glu
ENST00000612785.1:c.562-786C>G ENSP00000479244.1:n.562-786C>G
NM_001206846.1:c.4066-7269C>G NP_001193775.1:n.4066-7269C>G
NM_018136.4:c.5818C>G NP_060606.3:p.Gln1940Glu
NM_018136.5:c.5818C>G MANE Select NP_060606.3:p.Gln1940Glu
NM_001206846.2:c.4066-7269C>G NP_001193775.1:n.4066-7269C>G
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