Canonical Allele Identifier: CA342300
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197090929G>C
GRCh37 chr1:g.197060059G>C
gnomAD v2:
1:197060059 G / C
gnomAD v4:
chr1-197090929-G-C
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV000020819
ClinVar Variation:
21629
dbSNP:
199422189
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090929G>C , CM000663.2:g.197090929G>C GRCh38
NC_000001.10:g.197060059G>C , CM000663.1:g.197060059G>C GRCh37
NC_000001.9:g.195326682G>C NCBI36
NG_015867.1:g.60766C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2844C>G
ENST00000367409.9:c.9557C>G MANE Select ENSP00000356379.4:p.Ser3186Ter
ENST00000680265.1:c.9779C>G ENSP00000505384.1:p.Ser3260Ter
ENST00000680710.1:c.9533C>G ENSP00000506676.1:p.Ser3178Ter
ENST00000294732.11:c.4802C>G ENSP00000294732.7:p.Ser1601Ter
ENST00000367408.5:c.2552C>G ENSP00000356378.1:p.Ser851Ter
ENST00000367409.8:c.9557C>G ENSP00000356379.4:p.Ser3186Ter
ENST00000612785.1:c.3515C>G ENSP00000479244.1:p.Ser1172Ter
NM_001206846.1:c.4802C>G NP_001193775.1:p.Ser1601Ter
NM_018136.4:c.9557C>G NP_060606.3:p.Ser3186Ter
NM_018136.5:c.9557C>G MANE Select NP_060606.3:p.Ser3186Ter
NM_001206846.2:c.4802C>G NP_001193775.1:p.Ser1601Ter
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