Canonical Allele Identifier: CA233487
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197090947T>G
GRCh37 chr1:g.197060077T>G
Revel Score:
ENST00000367409 (MANE Select) 0.282
ENST00000294732 0.282
ENST00000367408 0.282
ENST00000367406 0.282
gnomAD v2:
1:197060077 T / G
gnomAD v3:
1:197090947 T / G
gnomAD v4:
chr1-197090947-T-G
Joint Max Group AF 0.03495495 (SAS)
Genomes Max Group AF 0.03326237 (SAS)
Exomes Max Group AF 0.0348303 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090947T>G , CM000663.2:g.197090947T>G GRCh38
NC_000001.10:g.197060077T>G , CM000663.1:g.197060077T>G GRCh37
NC_000001.9:g.195326700T>G NCBI36
NG_015867.1:g.60748A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2826A>C
ENST00000367409.9:c.9539A>C MANE Select ENSP00000356379.4:p.Gln3180Pro
ENST00000680265.1:c.9761A>C ENSP00000505384.1:p.Gln3254Pro
ENST00000680710.1:c.9515A>C ENSP00000506676.1:p.Gln3172Pro
ENST00000294732.11:c.4784A>C ENSP00000294732.7:p.Gln1595Pro
ENST00000367408.5:c.2534A>C ENSP00000356378.1:p.Gln845Pro
ENST00000367409.8:c.9539A>C ENSP00000356379.4:p.Gln3180Pro
ENST00000612785.1:c.3497A>C ENSP00000479244.1:p.Gln1166Pro
NM_001206846.1:c.4784A>C NP_001193775.1:p.Gln1595Pro
NM_018136.4:c.9539A>C NP_060606.3:p.Gln3180Pro
NM_018136.5:c.9539A>C MANE Select NP_060606.3:p.Gln3180Pro
NM_001206846.2:c.4784A>C NP_001193775.1:p.Gln1595Pro
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