Canonical Allele Identifier: CA1309103
Gene: ASPM HGNC NCBI
ClinVar RCV:
RCV000727434
RCV001101795
RCV004020707
ClinVar Variation:
234656
dbSNP:
149690383
gnomAD v2:
1:197065149 T / C
gnomAD v3:
1:197096019 T / C
gnomAD v4:
chr1-197096019-T-C
Joint Max Group AF 0.00031044 (NFE)
Genomes Max Group AF 0.00035587 (NFE)
Exomes Max Group AF 0.00030141 (NFE)
MyVariant.info:
GRCh38 chr1:g.197096019T>C
GRCh37 chr1:g.197065149T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197096019T>C , CM000663.2:g.197096019T>C GRCh38
NC_000001.10:g.197065149T>C , CM000663.1:g.197065149T>C GRCh37
NC_000001.9:g.195331772T>C NCBI36
NG_015867.1:g.55676A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2253A>G
ENST00000367409.9:c.8966A>G MANE Select ENSP00000356379.4:p.Tyr2989Cys
ENST00000680265.1:c.9188A>G ENSP00000505384.1:p.Tyr3063Cys
ENST00000680710.1:c.8966A>G ENSP00000506676.1:p.Tyr2989Cys
ENST00000294732.11:c.4211A>G ENSP00000294732.7:p.Tyr1404Cys
ENST00000367408.5:c.1961A>G ENSP00000356378.1:p.Tyr654Cys
ENST00000367409.8:c.8966A>G ENSP00000356379.4:p.Tyr2989Cys
ENST00000612785.1:c.2924A>G ENSP00000479244.1:p.Tyr975Cys
NM_001206846.1:c.4211A>G NP_001193775.1:p.Tyr1404Cys
NM_018136.4:c.8966A>G NP_060606.3:p.Tyr2989Cys
NM_018136.5:c.8966A>G MANE Select NP_060606.3:p.Tyr2989Cys
NM_001206846.2:c.4211A>G NP_001193775.1:p.Tyr1404Cys
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