Canonical Allele Identifier: CA271099
Gene: ASPM HGNC NCBI
COSMIC:
COSM4576729 (not active)
MyVariant.info:
GRCh38 chr1:g.197101700A>G
GRCh37 chr1:g.197070830A>G
gnomAD v2:
1:197070830 A / G
gnomAD v3:
1:197101700 A / G
gnomAD v4:
chr1-197101700-A-G
Joint Max Group AF 0.00939005 (MID)
Genomes Max Group AF 0.00033043 (NFE)
Exomes Max Group AF 0.009244 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197101700A>G , CM000663.2:g.197101700A>G GRCh38
NC_000001.10:g.197070830A>G , CM000663.1:g.197070830A>G GRCh37
NC_000001.9:g.195337453A>G NCBI36
NG_015867.1:g.49995T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-5536T>C
ENST00000367409.9:c.7551T>C MANE Select ENSP00000356379.4:p.Tyr2517=
ENST00000680265.1:c.7551T>C ENSP00000505384.1:p.Tyr2517=
ENST00000680710.1:c.7551T>C ENSP00000506676.1:p.Tyr2517=
ENST00000294732.11:c.4066-5536T>C ENSP00000294732.7:n.4066-5536T>C
ENST00000367408.5:c.1816-5536T>C ENSP00000356378.1:n.1816-5536T>C
ENST00000367409.8:c.7551T>C ENSP00000356379.4:p.Tyr2517=
ENST00000612785.1:c.1509T>C ENSP00000479244.1:p.Tyr503=
NM_001206846.1:c.4066-5536T>C NP_001193775.1:n.4066-5536T>C
NM_018136.4:c.7551T>C NP_060606.3:p.Tyr2517=
NM_018136.5:c.7551T>C MANE Select NP_060606.3:p.Tyr2517=
NM_001206846.2:c.4066-5536T>C NP_001193775.1:n.4066-5536T>C
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