WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.154039673_154039686del | CA571438846 | OPRM1 | c.129_142del (p.Asp43GlufsTer?) c.315_328del (p.Asp105GlufsTer?) c.408_421del (p.Asp136GlufsTer?) c.47+29114_47+29127del (n.47+29114_47+29127del) c.273_286del (p.Asp91GlufsTer?) c.-11+28655_-11+28668del (n.-11+28655_-11+28668del) n.310_323del n.263_276del | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.154039686A>C | CA366152546 | OPRM1 | c.142A>C (p.Asn48His) c.328A>C (p.Asn110His) c.421A>C (p.Asn141His) c.47+29127A>C (n.47+29127A>C) c.286A>C (p.Asn96His) c.-11+28668A>C (n.-11+28668A>C) n.323A>C n.276A>C | gnomAD v4 |
| 6 | g.154039686A>G | CA366152547 | OPRM1 | c.142A>G (p.Asn48Asp) c.328A>G (p.Asn110Asp) c.421A>G (p.Asn141Asp) c.47+29127A>G (n.47+29127A>G) c.286A>G (p.Asn96Asp) c.-11+28668A>G (n.-11+28668A>G) n.323A>G n.276A>G | |
| 6 | g.154039686A>T | CA366152545 | OPRM1 | c.142A>T (p.Asn48Tyr) c.328A>T (p.Asn110Tyr) c.421A>T (p.Asn141Tyr) c.47+29127A>T (n.47+29127A>T) c.286A>T (p.Asn96Tyr) c.-11+28668A>T (n.-11+28668A>T) n.323A>T n.276A>T | |
| 6 | g.154039687A>C | CA366152548 | OPRM1 | c.143A>C (p.Asn48Thr) c.329A>C (p.Asn110Thr) c.422A>C (p.Asn141Thr) c.47+29128A>C (n.47+29128A>C) c.287A>C (p.Asn96Thr) c.-11+28669A>C (n.-11+28669A>C) n.324A>C n.277A>C | |
| 6 | g.154039687A>G | CA366152550 | OPRM1 | c.143A>G (p.Asn48Ser) c.329A>G (p.Asn110Ser) c.422A>G (p.Asn141Ser) c.47+29128A>G (n.47+29128A>G) c.287A>G (p.Asn96Ser) c.-11+28669A>G (n.-11+28669A>G) n.324A>G n.277A>G | |
| 6 | g.154039687A>T | CA366152549 | OPRM1 | c.143A>T (p.Asn48Ile) c.329A>T (p.Asn110Ile) c.422A>T (p.Asn141Ile) c.47+29128A>T (n.47+29128A>T) c.287A>T (p.Asn96Ile) c.-11+28669A>T (n.-11+28669A>T) n.324A>T n.277A>T | |
| 6 | g.154039688C>A | CA366152551 | OPRM1 | c.144C>A (p.Asn48Lys) c.330C>A (p.Asn110Lys) c.423C>A (p.Asn141Lys) c.47+29129C>A (n.47+29129C>A) c.288C>A (p.Asn96Lys) c.-11+28670C>A (n.-11+28670C>A) n.325C>A n.278C>A | |
| 6 | g.154039688C= | CA1674072040 | OPRM1 | c.144C= (p.Asn48=) c.330C= (p.Asn110=) c.423C= (p.Asn141=) c.47+29129C= (n.47+29129C=) c.288C= (p.Asn96=) c.-11+28670C= (n.-11+28670C=) n.325C= n.278C= | |
| 6 | g.154039688C>G | CA4061383 | OPRM1 | c.144C>G (p.Asn48Lys) c.330C>G (p.Asn110Lys) c.423C>G (p.Asn141Lys) c.47+29129C>G (n.47+29129C>G) c.288C>G (p.Asn96Lys) c.-11+28670C>G (n.-11+28670C>G) n.325C>G n.278C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.154039688C>T | CA452974086 | OPRM1 | c.144C>T (p.Asn48=) c.330C>T (p.Asn110=) c.423C>T (p.Asn141=) c.47+29129C>T (n.47+29129C>T) c.288C>T (p.Asn96=) c.-11+28670C>T (n.-11+28670C>T) n.325C>T n.278C>T | |
| 6 | g.154039689C>A | CA150239066 | OPRM1 | c.145C>A (p.Arg49Ser) c.331C>A (p.Arg111Ser) c.424C>A (p.Arg142Ser) c.47+29130C>A (n.47+29130C>A) c.289C>A (p.Arg97Ser) c.-11+28671C>A (n.-11+28671C>A) n.326C>A n.279C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.154039689C= | CA1674072045 | OPRM1 | c.145C= (p.Arg49=) c.331C= (p.Arg111=) c.424C= (p.Arg142=) c.47+29130C= (n.47+29130C=) c.289C= (p.Arg97=) c.-11+28671C= (n.-11+28671C=) n.326C= n.279C= | |
| 6 | g.154039689C>G | CA366152552 | OPRM1 | c.145C>G (p.Arg49Gly) c.331C>G (p.Arg111Gly) c.424C>G (p.Arg142Gly) c.47+29130C>G (n.47+29130C>G) c.289C>G (p.Arg97Gly) c.-11+28671C>G (n.-11+28671C>G) n.326C>G n.279C>G | dbSNP gnomAD v4 |
| 6 | g.154039689C>T | CA366152553 | OPRM1 | c.145C>T (p.Arg49Cys) c.331C>T (p.Arg111Cys) c.424C>T (p.Arg142Cys) c.47+29130C>T (n.47+29130C>T) c.289C>T (p.Arg97Cys) c.-11+28671C>T (n.-11+28671C>T) n.326C>T n.279C>T | gnomAD v4 |
| 6 | g.154039690G>A | CA150239084 | OPRM1 | c.146G>A (p.Arg49His) c.332G>A (p.Arg111His) c.425G>A (p.Arg142His) c.47+29131G>A (n.47+29131G>A) c.290G>A (p.Arg97His) c.-11+28672G>A (n.-11+28672G>A) n.327G>A n.280G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.154039690G>C | CA366152554 | OPRM1 | c.146G>C (p.Arg49Pro) c.332G>C (p.Arg111Pro) c.425G>C (p.Arg142Pro) c.47+29131G>C (n.47+29131G>C) c.290G>C (p.Arg97Pro) c.-11+28672G>C (n.-11+28672G>C) n.327G>C n.280G>C | |
| 6 | g.154039690G= | CA1674072052 | OPRM1 | c.146G= (p.Arg49=) c.332G= (p.Arg111=) c.425G= (p.Arg142=) c.47+29131G= (n.47+29131G=) c.290G= (p.Arg97=) c.-11+28672G= (n.-11+28672G=) n.327G= n.280G= | |
| 6 | g.154039690G>T | CA150239111 | OPRM1 | c.146G>T (p.Arg49Leu) c.332G>T (p.Arg111Leu) c.425G>T (p.Arg142Leu) c.47+29131G>T (n.47+29131G>T) c.290G>T (p.Arg97Leu) c.-11+28672G>T (n.-11+28672G>T) n.327G>T n.280G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 6 | g.154039691C>A | CA452974092 | OPRM1 | c.147C>A (p.Arg49=) c.333C>A (p.Arg111=) c.426C>A (p.Arg142=) c.47+29132C>A (n.47+29132C>A) c.291C>A (p.Arg97=) c.-11+28673C>A (n.-11+28673C>A) n.328C>A n.281C>A | |
| 6 | g.154039691C= | CA1674072060 | OPRM1 | c.147C= (p.Arg49=) c.333C= (p.Arg111=) c.426C= (p.Arg142=) c.47+29132C= (n.47+29132C=) c.291C= (p.Arg97=) c.-11+28673C= (n.-11+28673C=) n.328C= n.281C= | |
| 6 | g.154039691C>G | CA452974095 | OPRM1 | c.147C>G (p.Arg49=) c.333C>G (p.Arg111=) c.426C>G (p.Arg142=) c.47+29132C>G (n.47+29132C>G) c.291C>G (p.Arg97=) c.-11+28673C>G (n.-11+28673C>G) n.328C>G n.281C>G | |
| 6 | g.154039691C>T | CA452974097 | OPRM1 | c.147C>T (p.Arg49=) c.333C>T (p.Arg111=) c.426C>T (p.Arg142=) c.47+29132C>T (n.47+29132C>T) c.291C>T (p.Arg97=) c.-11+28673C>T (n.-11+28673C>T) n.328C>T n.281C>T | dbSNP |
| 6 | g.154039692A>C | CA366152555 | OPRM1 | c.148A>C (p.Thr50Pro) c.334A>C (p.Thr112Pro) c.427A>C (p.Thr143Pro) c.47+29133A>C (n.47+29133A>C) c.292A>C (p.Thr98Pro) c.-11+28674A>C (n.-11+28674A>C) n.329A>C n.282A>C | |
| 6 | g.154039692A>G | CA366152556 | OPRM1 | c.148A>G (p.Thr50Ala) c.334A>G (p.Thr112Ala) c.427A>G (p.Thr143Ala) c.47+29133A>G (n.47+29133A>G) c.292A>G (p.Thr98Ala) c.-11+28674A>G (n.-11+28674A>G) n.329A>G n.282A>G | gnomAD v4 |
| 6 | g.154039692A>T | CA366152557 | OPRM1 | c.148A>T (p.Thr50Ser) c.334A>T (p.Thr112Ser) c.427A>T (p.Thr143Ser) c.47+29133A>T (n.47+29133A>T) c.292A>T (p.Thr98Ser) c.-11+28674A>T (n.-11+28674A>T) n.329A>T n.282A>T | |
| 6 | g.154039693C>A | CA366152560 | OPRM1 | c.149C>A (p.Thr50Asn) c.335C>A (p.Thr112Asn) c.428C>A (p.Thr143Asn) c.47+29134C>A (n.47+29134C>A) c.293C>A (p.Thr98Asn) c.-11+28675C>A (n.-11+28675C>A) n.330C>A n.283C>A | |
| 6 | g.154039693C>G | CA366152559 | OPRM1 | c.149C>G (p.Thr50Ser) c.335C>G (p.Thr112Ser) c.428C>G (p.Thr143Ser) c.47+29134C>G (n.47+29134C>G) c.293C>G (p.Thr98Ser) c.-11+28675C>G (n.-11+28675C>G) n.330C>G n.283C>G | |
| 6 | g.154039693C>T | CA366152558 | OPRM1 | c.149C>T (p.Thr50Ile) c.335C>T (p.Thr112Ile) c.428C>T (p.Thr143Ile) c.47+29134C>T (n.47+29134C>T) c.293C>T (p.Thr98Ile) c.-11+28675C>T (n.-11+28675C>T) n.330C>T n.283C>T | |
| 6 | g.154039694C>A | CA150239122 | OPRM1 | c.150C>A (p.Thr50=) c.336C>A (p.Thr112=) c.429C>A (p.Thr143=) c.47+29135C>A (n.47+29135C>A) c.294C>A (p.Thr98=) c.-11+28676C>A (n.-11+28676C>A) n.331C>A n.284C>A | dbSNP gnomAD v4 |
| 6 | g.154039694C= | CA1674072065 | OPRM1 | c.150C= (p.Thr50=) c.336C= (p.Thr112=) c.429C= (p.Thr143=) c.47+29135C= (n.47+29135C=) c.294C= (p.Thr98=) c.-11+28676C= (n.-11+28676C=) n.331C= n.284C= | |
| 6 | g.154039694C>G | CA452974105 | OPRM1 | c.150C>G (p.Thr50=) c.336C>G (p.Thr112=) c.429C>G (p.Thr143=) c.47+29135C>G (n.47+29135C>G) c.294C>G (p.Thr98=) c.-11+28676C>G (n.-11+28676C>G) n.331C>G n.284C>G | |
| 6 | g.154039694C>T | CA4061384 | OPRM1 | c.150C>T (p.Thr50=) c.336C>T (p.Thr112=) c.429C>T (p.Thr143=) c.47+29135C>T (n.47+29135C>T) c.294C>T (p.Thr98=) c.-11+28676C>T (n.-11+28676C>T) n.331C>T n.284C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.154039695G>A | CA4061385 | OPRM1 | c.151G>A (p.Asp51Asn) c.337G>A (p.Asp113Asn) c.430G>A (p.Asp144Asn) c.47+29136G>A (n.47+29136G>A) c.295G>A (p.Asp99Asn) c.-11+28677G>A (n.-11+28677G>A) n.332G>A n.285G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.154039695G>C | CA366152561 | OPRM1 | c.151G>C (p.Asp51His) c.337G>C (p.Asp113His) c.430G>C (p.Asp144His) c.47+29136G>C (n.47+29136G>C) c.295G>C (p.Asp99His) c.-11+28677G>C (n.-11+28677G>C) n.332G>C n.285G>C | |
| 6 | g.154039695G= | CA1674072070 | OPRM1 | c.151G= (p.Asp51=) c.337G= (p.Asp113=) c.430G= (p.Asp144=) c.47+29136G= (n.47+29136G=) c.295G= (p.Asp99=) c.-11+28677G= (n.-11+28677G=) n.332G= n.285G= | |
| 6 | g.154039695G>T | CA366152562 | OPRM1 | c.151G>T (p.Asp51Tyr) c.337G>T (p.Asp113Tyr) c.430G>T (p.Asp144Tyr) c.47+29136G>T (n.47+29136G>T) c.295G>T (p.Asp99Tyr) c.-11+28677G>T (n.-11+28677G>T) n.332G>T n.285G>T | gnomAD v4 |
| 6 | g.154039695_154039696delinsGA | CA1674072072 | OPRM1 | c.151_152delinsGA (p.Asp51=) c.337_338delinsGA (p.Asp113=) c.430_431delinsGA (p.Asp144=) c.47+29136_47+29137delinsGA (n.47+29136_47+29137delinsGA) c.295_296delinsGA (p.Asp99=) c.-11+28677_-11+28678delinsGA (n.-11+28677_-11+28678delinsGA) n.332_333delinsGA n.285_286delinsGA | |
| 6 | g.154039696del | CA915944493 | OPRM1 | c.152del (p.Asp51AlafsTer17) c.338del (p.Asp113AlafsTer17) c.431del (p.Asp144AlafsTer17) c.47+29137del (n.47+29137del) c.296del (p.Asp99AlafsTer17) c.-11+28678del (n.-11+28678del) n.333del n.286del | ClinVar dbSNP |
| 6 | g.154039696A>C | CA366152563 | OPRM1 | c.152A>C (p.Asp51Ala) c.338A>C (p.Asp113Ala) c.431A>C (p.Asp144Ala) c.47+29137A>C (n.47+29137A>C) c.296A>C (p.Asp99Ala) c.-11+28678A>C (n.-11+28678A>C) n.333A>C n.286A>C | |
| 6 | g.154039696A>G | CA366152564 | OPRM1 | c.152A>G (p.Asp51Gly) c.338A>G (p.Asp113Gly) c.431A>G (p.Asp144Gly) c.47+29137A>G (n.47+29137A>G) c.296A>G (p.Asp99Gly) c.-11+28678A>G (n.-11+28678A>G) n.333A>G n.286A>G | |
| 6 | g.154039696A>T | CA366152565 | OPRM1 | c.152A>T (p.Asp51Val) c.338A>T (p.Asp113Val) c.431A>T (p.Asp144Val) c.47+29137A>T (n.47+29137A>T) c.296A>T (p.Asp99Val) c.-11+28678A>T (n.-11+28678A>T) n.333A>T n.286A>T | |
| 6 | g.154039697C>A | CA366152566 | OPRM1 | c.153C>A (p.Asp51Glu) c.339C>A (p.Asp113Glu) c.432C>A (p.Asp144Glu) c.47+29138C>A (n.47+29138C>A) c.297C>A (p.Asp99Glu) c.-11+28679C>A (n.-11+28679C>A) n.334C>A n.287C>A | |
| 6 | g.154039697C>G | CA366152567 | OPRM1 | c.153C>G (p.Asp51Glu) c.339C>G (p.Asp113Glu) c.432C>G (p.Asp144Glu) c.47+29138C>G (n.47+29138C>G) c.297C>G (p.Asp99Glu) c.-11+28679C>G (n.-11+28679C>G) n.334C>G n.287C>G | |
| 6 | g.154039697C>T | CA452974117 | OPRM1 | c.153C>T (p.Asp51=) c.339C>T (p.Asp113=) c.432C>T (p.Asp144=) c.47+29138C>T (n.47+29138C>T) c.297C>T (p.Asp99=) c.-11+28679C>T (n.-11+28679C>T) n.334C>T n.287C>T | gnomAD v4 |
| 6 | g.154039698C>A | CA366152568 | OPRM1 | c.154C>A (p.Leu52Met) c.340C>A (p.Leu114Met) c.433C>A (p.Leu145Met) c.47+29139C>A (n.47+29139C>A) c.298C>A (p.Leu100Met) c.-11+28680C>A (n.-11+28680C>A) n.335C>A n.288C>A | |
| 6 | g.154039698C>G | CA366152569 | OPRM1 | c.154C>G (p.Leu52Val) c.340C>G (p.Leu114Val) c.433C>G (p.Leu145Val) c.47+29139C>G (n.47+29139C>G) c.298C>G (p.Leu100Val) c.-11+28680C>G (n.-11+28680C>G) n.335C>G n.288C>G | |
| 6 | g.154039698C>T | CA452974118 | OPRM1 | c.154C>T (p.Leu52=) c.340C>T (p.Leu114=) c.433C>T (p.Leu145=) c.47+29139C>T (n.47+29139C>T) c.298C>T (p.Leu100=) c.-11+28680C>T (n.-11+28680C>T) n.335C>T n.288C>T | |
| 6 | g.154039699T>A | CA366152572 | OPRM1 | c.155T>A (p.Leu52Gln) c.341T>A (p.Leu114Gln) c.434T>A (p.Leu145Gln) c.47+29140T>A (n.47+29140T>A) c.299T>A (p.Leu100Gln) c.-11+28681T>A (n.-11+28681T>A) n.336T>A n.289T>A | |
| 6 | g.154039699T>C | CA366152571 | OPRM1 | c.155T>C (p.Leu52Pro) c.341T>C (p.Leu114Pro) c.434T>C (p.Leu145Pro) c.47+29140T>C (n.47+29140T>C) c.299T>C (p.Leu100Pro) c.-11+28681T>C (n.-11+28681T>C) n.336T>C n.289T>C |