Canonical Allele Identifier: CA241074
Gene: ASPM HGNC NCBI
ClinVar RCV:
RCV000175345
RCV000336358
RCV000965580
RCV003927420
ClinVar Variation:
157833
dbSNP:
142536561
gnomAD v2:
1:197073082 C / G
gnomAD v3:
1:197103952 C / G
gnomAD v4:
chr1-197103952-C-G
Joint Max Group AF 0.00407745 (AFR)
Genomes Max Group AF 0.00393091 (AFR)
Exomes Max Group AF 0.0039058 (AFR)
MyVariant.info:
GRCh38 chr1:g.197103952C>G
GRCh37 chr1:g.197073082C>G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197103952C>G , CM000663.2:g.197103952C>G GRCh38
NC_000001.10:g.197073082C>G , CM000663.1:g.197073082C>G GRCh37
NC_000001.9:g.195339705C>G NCBI36
NG_015867.1:g.47743G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-7788G>C
ENST00000367409.9:c.5299G>C MANE Select ENSP00000356379.4:p.Ala1767Pro
ENST00000680265.1:c.5299G>C ENSP00000505384.1:p.Ala1767Pro
ENST00000680710.1:c.5299G>C ENSP00000506676.1:p.Ala1767Pro
ENST00000294732.11:c.4066-7788G>C ENSP00000294732.7:n.4066-7788G>C
ENST00000367408.5:c.1816-7788G>C ENSP00000356378.1:n.1816-7788G>C
ENST00000367409.8:c.5299G>C ENSP00000356379.4:p.Ala1767Pro
ENST00000612785.1:c.562-1305G>C ENSP00000479244.1:n.562-1305G>C
NM_001206846.1:c.4066-7788G>C NP_001193775.1:n.4066-7788G>C
NM_018136.4:c.5299G>C NP_060606.3:p.Ala1767Pro
NM_018136.5:c.5299G>C MANE Select NP_060606.3:p.Ala1767Pro
NM_001206846.2:c.4066-7788G>C NP_001193775.1:n.4066-7788G>C
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