Canonical Allele Identifier: CA271104
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 157875
ClinVar RCV Id: RCV000145192 RCV000624327 RCV000710646 RCV001252170 RCV003905252
dbSNP Id: rs78215018
ExAC: 1:197070711 G / C
gnomAD v2: 1-197070711-G-C
gnomAD v3: 1-197101581-G-C
gnomAD v4: 1-197101581-G-C
MyVariant Identifiers: chr1:g.197070711G>C (hg19) chr1:g.197101581G>C (hg38)
PubMed: PMID:12355089 PMID:15806441 PMID:16141009 PMID:18452193 PMID:19028728 PMID:19332161 PMID:19770472 PMID:20978018 PMID:22775483 PMID:27250695
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197101581G>C , CM000663.2:g.197101581G>C GRCh38
NC_000001.10:g.197070711G>C , CM000663.1:g.197070711G>C GRCh37
NC_000001.9:g.195337334G>C NCBI36
NG_015867.1:g.50114C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2108-5417C>G
ENST00000367409.9:c.7670C>G MANE Select ENSP00000356379.4:p.Ser2557Cys
ENST00000680265.1:c.7670C>G ENSP00000505384.1:p.Ser2557Cys
ENST00000680710.1:c.7670C>G ENSP00000506676.1:p.Ser2557Cys
ENST00000294732.11:c.4066-5417C>G ENSP00000294732.7:n.4066-5417C>G
ENST00000367408.5:c.1816-5417C>G ENSP00000356378.1:n.1816-5417C>G
ENST00000367409.8:c.7670C>G ENSP00000356379.4:p.Ser2557Cys
ENST00000612785.1:c.1628C>G ENSP00000479244.1:p.Ser543Cys
NM_001206846.1:c.4066-5417C>G NP_001193775.1:n.4066-5417C>G
NM_018136.4:c.7670C>G NP_060606.3:p.Ser2557Cys
NM_018136.5:c.7670C>G MANE Select NP_060606.3:p.Ser2557Cys
NM_001206846.2:c.4066-5417C>G NP_001193775.1:n.4066-5417C>G
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