Canonical Allele Identifier: CA342264
Gene: ASPM HGNC NCBI
COSMIC:
COSM901676
MyVariant.info:
GRCh38 chr1:g.197103019G>A
GRCh37 chr1:g.197072149G>A
gnomAD v2:
1:197072149 G / A
gnomAD v3:
1:197103019 G / A
gnomAD v4:
chr1-197103019-G-A
Joint Max Group AF 0.00000764 (NFE)
Genomes Max Group AF 0.00000489 (NFE)
Exomes Max Group AF 0.00000653 (NFE)
ClinVar RCV:
RCV000020784
RCV002466409
ClinVar Variation:
21594
dbSNP:
199422168
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197103019G>A , CM000663.2:g.197103019G>A GRCh38
NC_000001.10:g.197072149G>A , CM000663.1:g.197072149G>A GRCh37
NC_000001.9:g.195338772G>A NCBI36
NG_015867.1:g.48676C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-6855C>T
ENST00000367409.9:c.6232C>T MANE Select ENSP00000356379.4:p.Arg2078Ter
ENST00000680265.1:c.6232C>T ENSP00000505384.1:p.Arg2078Ter
ENST00000680710.1:c.6232C>T ENSP00000506676.1:p.Arg2078Ter
ENST00000294732.11:c.4066-6855C>T ENSP00000294732.7:n.4066-6855C>T
ENST00000367408.5:c.1816-6855C>T ENSP00000356378.1:n.1816-6855C>T
ENST00000367409.8:c.6232C>T ENSP00000356379.4:p.Arg2078Ter
ENST00000612785.1:c.562-372C>T ENSP00000479244.1:n.562-372C>T
NM_001206846.1:c.4066-6855C>T NP_001193775.1:n.4066-6855C>T
NM_018136.4:c.6232C>T NP_060606.3:p.Arg2078Ter
NM_018136.5:c.6232C>T MANE Select NP_060606.3:p.Arg2078Ter
NM_001206846.2:c.4066-6855C>T NP_001193775.1:n.4066-6855C>T
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