Canonical Allele Identifier: CA9722550
Gene: TRIB3 HGNC NCBI
COSMIC:
COSM3723968 (not active)
MyVariant.info:
GRCh38 chr20:g.388261A>G
GRCh37 chr20:g.368905A>G
Revel Score:
ENST00000217233 (MANE Select) 0.078
ENST00000449710 0.078
ENST00000422053 0.078
gnomAD v2:
20:368905 A / G
gnomAD v3:
20:388261 A / G
gnomAD v4:
chr20-388261-A-G
Joint Max Group AF 0.37842973 (SAS)
Genomes Max Group AF 0.35905882 (SAS)
Exomes Max Group AF 0.37880541 (SAS)
dbSNP:
2295490
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.388261A>G , CM000682.2:g.388261A>G GRCh38
NC_000020.10:g.368905A>G , CM000682.1:g.368905A>G GRCh37
NC_000020.9:g.316905A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000217233.9:c.251A>G MANE Select ENSP00000217233.3:p.Gln84Arg
ENST00000217233.8:c.251A>G ENSP00000217233.3:p.Gln84Arg
ENST00000217233.7:c.251A>G ENSP00000217233.3:p.Gln84Arg
ENST00000422053.3:c.332A>G ENSP00000415416.2:p.Gln111Arg
ENST00000449710.5:c.251A>G ENSP00000391873.1:p.Gln84Arg
ENST00000615226.4:c.251A>G ENSP00000478194.1:p.Gln84Arg
NM_001301188.1:c.251A>G NP_001288117.1:p.Gln84Arg
NM_001301190.1:c.251A>G NP_001288119.1:p.Gln84Arg
NM_001301193.1:c.251A>G NP_001288122.1:p.Gln84Arg
NM_001301196.1:c.251A>G NP_001288125.1:p.Gln84Arg
NM_001301201.1:c.332A>G NP_001288130.1:p.Gln111Arg
NM_021158.4:c.251A>G NP_066981.2:p.Gln84Arg
XM_017027989.2:c.332A>G XP_016883478.1:p.Gln111Arg
NM_021158.5:c.251A>G MANE Select NP_066981.2:p.Gln84Arg
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