D6RIZ5 · D6RIZ5_HUMAN

  • Protein
    ALF transcription elongation factor 1
  • Gene
    AFF1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

1525101520253035404550
MLGNYEEVKEFLSTKSHTHRLDASENRLGKPKYPLIPDKGSSIPSSSFHTSV
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs14700463152L>*gnomAD
rs17307317632L>FEnsembl
rs11922473833G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs7750265255Y>NExAC
gnomAD
rs13569236186E>GVariant of uncertain significance (Ensembl)TOPMed
COSV57117752
rs772634363
6E>Kcosmic curated
ExAC
gnomAD
rs7726343636E>QExAC
gnomAD
rs21496138747E>KEnsembl
rs7600087988V>MTOPMed
gnomAD
rs7728805459K>RTOPMed
gnomAD
rs133308897610E>KgnomAD
rs77369857711F>LExAC
gnomAD
rs76131360313S>NExAC
gnomAD
rs76131360313S>TExAC
gnomAD
rs56053529014T>IVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs56053529014T>SVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs76796154416S>CEnsembl
rs173073842419H>LgnomAD
rs115689076819H>YTOPMed
gnomAD
COSV57123477
rs373948794
20R>CVariant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs37394879420R>GVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs36813400020R>HESP
ExAC
TOPMed
gnomAD
rs36813400020R>LESP
ExAC
TOPMed
gnomAD
rs11373960421L>QEnsembl
rs120096145822D>NTOPMed
gnomAD
rs120096145822D>YTOPMed
gnomAD
rs75861197225E>GExAC
gnomAD
COSV57123131
rs2149614012
25E>Kcosmic curated
Ensembl
rs173074041426N>DEnsembl
rs214961406529G>REnsembl
rs147712168630K>EgnomAD
rs214961408930K>MEnsembl
rs15050869631P>LVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
TCGA novel
rs1730742647
31P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
rs116874341734P>AgnomAD
rs116874341734P>SgnomAD
COSV57119761
rs201933604
35L>Scosmic curated
ExAC
TOPMed
gnomAD
rs76919937137P>AExAC
gnomAD
rs89528493037P>HEnsembl
rs92785846238D>ETOPMed
gnomAD
rs135153652938D>NgnomAD
rs74895380639K>EExAC
gnomAD
rs37174458939K>NESP
ExAC
TOPMed
gnomAD
rs122011770540G>EgnomAD
rs77375356942S>NExAC
TOPMed
gnomAD
COSV100320874
rs761156221
43I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
rs90388375146S>TTOPMed
gnomAD
COSV57125270
rs760018445
47S>Fcosmic curated
ExAC
gnomAD
rs173074989549H>NEnsembl
rs36832685550T>AExAC
TOPMed
gnomAD
rs56497003051S>G1000Genomes
ExAC
TOPMed
gnomAD
rs90980490951S>RTOPMed
rs56497003051S>R1000Genomes
ExAC
TOPMed
gnomAD
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