Canonical Allele Identifier: CA342295
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21624
ClinVar RCV Id: RCV000020814 RCV000914111 RCV003964808
dbSNP Id: rs12025066
ExAC: 1:197112445 T / C
gnomAD v2: 1-197112445-T-C
gnomAD v3: 1-197143315-T-C
gnomAD v4: 1-197143315-T-C
MyVariant Identifiers: chr1:g.197112445T>C (hg19) chr1:g.197143315T>C (hg38)
PubMed: PMID:20301772
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197143315T>C , CM000663.2:g.197143315T>C GRCh38
NC_000001.10:g.197112445T>C , CM000663.1:g.197112445T>C GRCh37
NC_000001.9:g.195379068T>C NCBI36
NG_015867.1:g.8380A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.937A>G MANE Select ENSP00000356379.4:p.Ile313Val
ENST00000679766.1:n.1154A>G
ENST00000680265.1:c.937A>G ENSP00000505384.1:p.Ile313Val
ENST00000680710.1:c.937A>G ENSP00000506676.1:p.Ile313Val
ENST00000681879.1:c.937A>G ENSP00000505363.1:p.Ile313Val
ENST00000294732.11:c.937A>G ENSP00000294732.7:p.Ile313Val
ENST00000367409.8:c.937A>G ENSP00000356379.4:p.Ile313Val
ENST00000612785.1:c.561+376A>G ENSP00000479244.1:n.561+376A>G
NM_001206846.1:c.937A>G NP_001193775.1:p.Ile313Val
NM_018136.4:c.937A>G NP_060606.3:p.Ile313Val
NM_018136.5:c.937A>G MANE Select NP_060606.3:p.Ile313Val
NM_001206846.2:c.937A>G NP_001193775.1:p.Ile313Val
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