Canonical Allele Identifier: CA1308881
Gene: ASPM HGNC NCBI
ClinVar RCV:
RCV000503336
RCV000727279
RCV001099802
RCV003258831
ClinVar Variation:
434404
dbSNP:
142901223
gnomAD v2:
1:197059479 A / C
gnomAD v3:
1:197090349 A / C
gnomAD v4:
chr1-197090349-A-C
Joint Max Group AF 0.00096391 (NFE)
Genomes Max Group AF 0.00083512 (NFE)
Exomes Max Group AF 0.00096169 (NFE)
MyVariant.info:
GRCh38 chr1:g.197090349A>C
GRCh37 chr1:g.197059479A>C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090349A>C , CM000663.2:g.197090349A>C GRCh38
NC_000001.10:g.197059479A>C , CM000663.1:g.197059479A>C GRCh37
NC_000001.9:g.195326102A>C NCBI36
NG_015867.1:g.61346T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2963T>G
ENST00000367409.9:c.9676T>G MANE Select ENSP00000356379.4:p.Cys3226Gly
ENST00000680265.1:c.9898T>G ENSP00000505384.1:p.Cys3300Gly
ENST00000680710.1:c.9652T>G ENSP00000506676.1:p.Cys3218Gly
ENST00000294732.11:c.4921T>G ENSP00000294732.7:p.Cys1641Gly
ENST00000367408.5:c.2671T>G ENSP00000356378.1:p.Cys891Gly
ENST00000367409.8:c.9676T>G ENSP00000356379.4:p.Cys3226Gly
ENST00000612785.1:c.3634T>G ENSP00000479244.1:p.Cys1212Gly
NM_001206846.1:c.4921T>G NP_001193775.1:p.Cys1641Gly
NM_018136.4:c.9676T>G NP_060606.3:p.Cys3226Gly
NM_018136.5:c.9676T>G MANE Select NP_060606.3:p.Cys3226Gly
NM_001206846.2:c.4921T>G NP_001193775.1:p.Cys1641Gly
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