Canonical Allele Identifier: CA171273
Gene: ASPM HGNC NCBI
COSMIC:
COSM1243089 (not active)
MyVariant.info:
GRCh38 chr1:g.197093092A>G
GRCh37 chr1:g.197062222A>G
Revel Score:
ENST00000367409 (MANE Select) 0.208
ENST00000294732 0.208
ENST00000367408 0.208
ENST00000367406 0.208
gnomAD v2:
1:197062222 A / G
gnomAD v3:
1:197093092 A / G
gnomAD v4:
chr1-197093092-A-G
Joint Max Group AF 0.00404976 (SAS)
Genomes Max Group AF 0.00403642 (AMR)
Exomes Max Group AF 0.00406512 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197093092A>G , CM000663.2:g.197093092A>G GRCh38
NC_000001.10:g.197062222A>G , CM000663.1:g.197062222A>G GRCh37
NC_000001.9:g.195328845A>G NCBI36
NG_015867.1:g.58603T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2541T>C
ENST00000367409.9:c.9254T>C MANE Select ENSP00000356379.4:p.Ile3085Thr
ENST00000680265.1:c.9476T>C ENSP00000505384.1:p.Ile3159Thr
ENST00000680710.1:c.9254T>C ENSP00000506676.1:p.Ile3085Thr
ENST00000294732.11:c.4499T>C ENSP00000294732.7:p.Ile1500Thr
ENST00000367408.5:c.2249T>C ENSP00000356378.1:p.Ile750Thr
ENST00000367409.8:c.9254T>C ENSP00000356379.4:p.Ile3085Thr
ENST00000612785.1:c.3212T>C ENSP00000479244.1:p.Ile1071Thr
NM_001206846.1:c.4499T>C NP_001193775.1:p.Ile1500Thr
NM_018136.4:c.9254T>C NP_060606.3:p.Ile3085Thr
NM_018136.5:c.9254T>C MANE Select NP_060606.3:p.Ile3085Thr
NM_001206846.2:c.4499T>C NP_001193775.1:p.Ile1500Thr
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