Canonical Allele Identifier: CA1498211
Gene: TRIM58 HGNC NCBI
COSMIC:
COSM907106
MyVariant.info:
GRCh38 chr1:g.247864805C>T
GRCh37 chr1:g.248028107C>T
Revel Score:
ENST00000366481 (MANE Select) 0.055
gnomAD v2:
1:248028107 C / T
gnomAD v4:
chr1-247864805-C-T
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar Allele:
2220750
ClinVar RCV:
RCV004097918
ClinVar Variation:
2233897
dbSNP:
767483764
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.247864805C>T , CM000663.2:g.247864805C>T GRCh38
NC_000001.10:g.248028107C>T , CM000663.1:g.248028107C>T GRCh37
NC_000001.9:g.246094730C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366481.4:c.617C>T MANE Select ENSP00000355437.3:p.Ala206Val
ENST00000366481.3:c.617C>T ENSP00000355437.3:p.Ala206Val
NM_015431.3:c.617C>T NP_056246.3:p.Ala206Val
NM_015431.4:c.617C>T MANE Select NP_056246.3:p.Ala206Val
Search 100 bp 5'
Search 100 bp 3'