K7ES06 · K7ES06_HUMAN

  • Protein
    Transmembrane p24 trafficking protein 1
  • Gene
    TMED1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

195102030405060708090
MMAAGAALALALWLLMPPVEVGGAGPPPIQDGEFTFLLPAGRKQCFYQSAPANASLETEYQVIGGAGLDVDFTLESPQGVLLGGANGGRGLQAVL
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs14473845212M>IgnomAD
rs8659397102M>TEnsembl
rs8682150233A>ETOPMed
rs8682150233A>VTOPMed
rs21462281984A>GEnsembl
rs7737107815G>SExAC
gnomAD
rs7703425446A>SExAC
gnomAD
rs7703425446A>TExAC
gnomAD
rs14895126097A>GTOPMed
gnomAD
rs14079465627A>PTOPMed
rs14895126097A>VTOPMed
gnomAD
rs12927094508L>ITOPMed
gnomAD
rs12927094508L>VTOPMed
gnomAD
rs1905172979A>P1000Genomes
ExAC
TOPMed
gnomAD
rs1905172979A>S1000Genomes
ExAC
TOPMed
gnomAD
rs1905172979A>T1000Genomes
ExAC
TOPMed
gnomAD
rs5647416439A>V1000Genomes
ExAC
gnomAD
rs74536182910L>RExAC
TOPMed
gnomAD
rs207342703811A>TTOPMed
rs77377249111A>VExAC
TOPMed
gnomAD
rs77769902312L>*ExAC
TOPMed
gnomAD
rs77769902312L>SExAC
TOPMed
gnomAD
rs86785580713W>CEnsembl
rs75583643013W>GExAC
TOPMed
gnomAD
rs74796424714L>PExAC
TOPMed
gnomAD
rs159965015814L>VEnsembl
rs78143041515L>IExAC
TOPMed
gnomAD
rs128091863216M>ITOPMed
gnomAD
rs75520806016M>KExAC
TOPMed
rs207342666116M>LEnsembl
rs75520806016M>RExAC
TOPMed
rs75896094517P>LExAC
TOPMed
gnomAD
rs75896094517P>QExAC
TOPMed
gnomAD
rs57625849117P>S1000Genomes
ExAC
gnomAD
rs207342647118P>QgnomAD
rs207342644419V>GEnsembl
rs143030528420E>DTOPMed
gnomAD
rs137580036120E>GTOPMed
gnomAD
rs55489562720E>Q1000Genomes
ExAC
gnomAD
rs137580036120E>VTOPMed
gnomAD
rs76584394721V>GExAC
gnomAD
rs119382747921V>LTOPMed
rs147432265223G>ETOPMed
gnomAD
COSV53034650
rs767166604
24A>Gcosmic curated
ExAC
gnomAD
rs53613177625G>EVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs156832951626P>HEnsembl
rs20214159726P>S1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs123611065027P>LTOPMed
gnomAD
rs123611065027P>QTOPMed
gnomAD
rs123611065027P>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs37103532928P>LESP
ExAC
TOPMed
gnomAD
rs74879977428P>SExAC
gnomAD
rs76974229929I>VExAC
gnomAD
rs130826976231D>GgnomAD
rs132631221532G>CTOPMed
gnomAD
rs132631221532G>RTOPMed
gnomAD
rs86684009432G>VEnsembl
rs78089310133E>AExAC
gnomAD
rs156832949733E>GEnsembl
rs207342518335T>MgnomAD
rs139983367036F>SgnomAD
rs77234716640A>VEnsembl
rs75522719441G>WExAC
gnomAD
rs159965003442R>GEnsembl
rs159965003442R>WEnsembl
rs214622789043K>EEnsembl
rs141438818844Q>*gnomAD
rs141438818844Q>KgnomAD
rs118283140845C>YgnomAD
COSV99284017
rs780438595
46F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs75848834947Y>HExAC
TOPMed
gnomAD
rs75056289948Q>*ExAC
TOPMed
gnomAD
rs75056289948Q>EExAC
TOPMed
gnomAD
rs207342478648Q>HEnsembl
rs13833638749S>A1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs207342466949S>CgnomAD
COSV107228666
rs138336387
49S>Pcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs13833638749S>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs207342462250A>TEnsembl
rs126693674550A>VgnomAD
rs133062906952A>GgnomAD
rs207342447753N>SgnomAD
rs104996895555S>NTOPMed
rs104996895555S>TTOPMed
rs93425393557E>KTOPMed
rs76442284358T>AExAC
gnomAD
rs139653172158T>NTOPMed
gnomAD
rs76111190859E>DExAC
gnomAD
rs207342427659E>KEnsembl
rs125796455160Y>*TOPMed
gnomAD
rs145566493861Q>*TOPMed
gnomAD
rs76604639961Q>HExAC
gnomAD
COSV53033349
rs773805483
61Q>Rcosmic curated
ExAC
gnomAD
rs75669089462V>LExAC
TOPMed
gnomAD
rs57197617164G>A1000Genomes
ExAC
gnomAD
rs57197617164G>E1000Genomes
ExAC
gnomAD
rs207341500965G>STOPMed
rs148255815668L>RgnomAD
rs124934774769D>GgnomAD
rs75803767370V>AExAC
TOPMed
gnomAD
rs207341482471D>ETOPMed
rs207341479772F>LEnsembl
rs20002992173T>MExAC
TOPMed
gnomAD
rs90526952174L>QVariant of uncertain significance (Ensembl)gnomAD
rs128533579676S>NTOPMed
gnomAD
rs37248137077P>SESP
ExAC
gnomAD
COSV53035135
rs372481370
77P>Tcosmic curated
ESP
ExAC
gnomAD
COSV99284240
rs2073414388
78Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs20040998479G>A1000Genomes
ExAC
TOPMed
gnomAD
COSV106337060
rs200409984
79G>Vcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs135551181480V>MgnomAD
rs207341421981L>PEnsembl
rs156832897982L>FTOPMed
rs129407926983G>VTOPMed
rs77729532284G>EExAC
gnomAD
rs74891014784G>RExAC
gnomAD
rs14167600385A>TESP
ExAC
TOPMed
gnomAD
rs97621298385A>VEnsembl
rs156832879586N>SEnsembl
rs133507948886N>YgnomAD
rs75227435987G>EExAC
TOPMed
gnomAD
rs207341075587G>REnsembl
rs76753587989R>GExAC
TOPMed
gnomAD
rs76753587989R>WExAC
TOPMed
gnomAD
rs207341056990G>REnsembl
rs75500396890G>VExAC
TOPMed
gnomAD
rs92213563892Q>ETOPMed
gnomAD
rs92213563892Q>KTOPMed
gnomAD
rs122159701592Q>LTOPMed
COSV99284085
rs375902608
93A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
dbSNP
rs124785200294V>MTOPMed
gnomAD
rs76625866095L>IExAC
TOPMed
gnomAD
rs76625866095L>VExAC
TOPMed
gnomAD
VAR_036533
rs755003968
102D>N
a breast cancer sample; somatic mutation (UniProt)
Variant of uncertain significance (UniProt)UniProt
ExAC
TOPMed
dbSNP
gnomAD
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