Canonical Allele Identifier: CA9722490
Gene: TRIB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2312645
ClinVar RCV Id: RCV002884652
dbSNP Id: rs369926677
gnomAD v2: 20-368710-T-C
gnomAD v3: 20-388066-T-C
gnomAD v4: 20-388066-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.388066T>C , CM000682.2:g.388066T>C GRCh38
NC_000020.10:g.368710T>C , CM000682.1:g.368710T>C GRCh37
NC_000020.9:g.316710T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000217233.9:c.56T>C MANE Select ENSP00000217233.3:p.Leu19Ser
ENST00000217233.8:c.56T>C ENSP00000217233.3:p.Leu19Ser
ENST00000217233.7:c.56T>C ENSP00000217233.3:p.Leu19Ser
ENST00000422053.3:c.137T>C ENSP00000415416.2:p.Leu46Ser
ENST00000449710.5:c.56T>C ENSP00000391873.1:p.Leu19Ser
ENST00000615226.4:c.56T>C ENSP00000478194.1:p.Leu19Ser
NM_001301188.1:c.56T>C NP_001288117.1:p.Leu19Ser
NM_001301190.1:c.56T>C NP_001288119.1:p.Leu19Ser
NM_001301193.1:c.56T>C NP_001288122.1:p.Leu19Ser
NM_001301196.1:c.56T>C NP_001288125.1:p.Leu19Ser
NM_001301201.1:c.137T>C NP_001288130.1:p.Leu46Ser
NM_021158.4:c.56T>C NP_066981.2:p.Leu19Ser
XM_017027989.2:c.137T>C XP_016883478.1:p.Leu46Ser
NM_021158.5:c.56T>C MANE Select NP_066981.2:p.Leu19Ser