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 |
|---|---|---|---|---|---|
| 11 | g.72402994T>A | CA381964586 | CLPB | c.*114A>T (n.*114A>T) n.585A>T c.514A>T (p.Met172Leu) c.389A>T (p.His130Leu) c.1A>T (p.Met1Leu) c.456-22610A>T (n.456-22610A>T) c.379A>T (p.Met127Leu) n.341A>T c.529A>T (p.Met177Leu) c.76A>T (p.Met26Leu) | |
| 11 | g.72402994T>C | CA381964587 | CLPB | c.*114A>G (n.*114A>G) n.585A>G c.514A>G (p.Met172Val) c.389A>G (p.His130Arg) c.1A>G (p.Met1Val) c.456-22610A>G (n.456-22610A>G) c.379A>G (p.Met127Val) n.341A>G c.529A>G (p.Met177Val) c.76A>G (p.Met26Val) | dbSNP |
| 11 | g.72402994T>G | CA16619403 | CLPB | c.*114A>C (n.*114A>C) n.585A>C c.514A>C (p.Met172Leu) c.389A>C (p.His130Pro) c.1A>C (p.Met1Leu) c.456-22610A>C (n.456-22610A>C) c.379A>C (p.Met127Leu) n.341A>C c.529A>C (p.Met177Leu) c.76A>C (p.Met26Leu) | ClinVar dbSNP |
| 11 | g.72402994T= | CA1981971598 | CLPB | c.*114A= (n.*114A=) n.585A= c.514A= (p.Met172=) c.389A= (p.His130=) c.1A= (p.Met1=) c.456-22610A= (n.456-22610A=) c.379A= (p.Met127=) n.341A= c.529A= (p.Met177=) c.76A= (p.Met26=) | |
| 11 | g.72402995G>A | CA224498031 | CLPB | c.*113C>T (n.*113C>T) n.584C>T c.513C>T (p.Leu171=) c.388C>T (p.His130Tyr) c.-1C>T (n.-1C>T) c.456-22611C>T (n.456-22611C>T) c.378C>T (p.Leu126=) n.340C>T c.528C>T (p.Leu176=) c.75C>T (p.Leu25=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.72402995G>C | CA475818842 | CLPB | c.*113C>G (n.*113C>G) n.584C>G c.513C>G (p.Leu171=) c.388C>G (p.His130Asp) c.-1C>G (n.-1C>G) c.456-22611C>G (n.456-22611C>G) c.378C>G (p.Leu126=) n.340C>G c.528C>G (p.Leu176=) c.75C>G (p.Leu25=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.72402995G= | CA1981971599 | CLPB | c.*113C= (n.*113C=) n.584C= c.513C= (p.Leu171=) c.388C= (p.His130=) c.-1C= (n.-1C=) c.456-22611C= (n.456-22611C=) c.378C= (p.Leu126=) n.340C= c.528C= (p.Leu176=) c.75C= (p.Leu25=) | |
| 11 | g.72402995G>T | CA475818843 | CLPB | c.*113C>A (n.*113C>A) n.584C>A c.513C>A (p.Leu171=) c.388C>A (p.His130Asn) c.-1C>A (n.-1C>A) c.456-22611C>A (n.456-22611C>A) c.378C>A (p.Leu126=) n.340C>A c.528C>A (p.Leu176=) c.75C>A (p.Leu25=) | |
| 11 | g.72402996A>C | CA381964590 | CLPB | c.*112T>G (n.*112T>G) n.583T>G c.512T>G (p.Leu171Arg) c.387T>G (p.Thr129=) c.-2T>G (n.-2T>G) c.456-22612T>G (n.456-22612T>G) c.377T>G (p.Leu126Arg) n.339T>G c.527T>G (p.Leu176Arg) c.74T>G (p.Leu25Arg) | |
| 11 | g.72402996A>G | CA381964589 | CLPB | c.*112T>C (n.*112T>C) n.583T>C c.512T>C (p.Leu171Pro) c.387T>C (p.Thr129=) c.-2T>C (n.-2T>C) c.456-22612T>C (n.456-22612T>C) c.377T>C (p.Leu126Pro) n.339T>C c.527T>C (p.Leu176Pro) c.74T>C (p.Leu25Pro) | |
| 11 | g.72402996A>T | CA381964588 | CLPB | c.*112T>A (n.*112T>A) n.583T>A c.512T>A (p.Leu171His) c.387T>A (p.Thr129=) c.-2T>A (n.-2T>A) c.456-22612T>A (n.456-22612T>A) c.377T>A (p.Leu126His) n.339T>A c.527T>A (p.Leu176His) c.74T>A (p.Leu25His) | |
| 11 | g.72402997G>A | CA381964591 | CLPB | c.*111C>T (n.*111C>T) n.582C>T c.511C>T (p.Leu171Phe) c.386C>T (p.Thr129Ile) c.-3C>T (n.-3C>T) c.456-22613C>T (n.456-22613C>T) c.376C>T (p.Leu126Phe) n.338C>T c.526C>T (p.Leu176Phe) c.73C>T (p.Leu25Phe) | |
| 11 | g.72402997G>C | CA381964592 | CLPB | c.*111C>G (n.*111C>G) n.582C>G c.511C>G (p.Leu171Val) c.386C>G (p.Thr129Ser) c.-3C>G (n.-3C>G) c.456-22613C>G (n.456-22613C>G) c.376C>G (p.Leu126Val) n.338C>G c.526C>G (p.Leu176Val) c.73C>G (p.Leu25Val) | |
| 11 | g.72402997G>T | CA381964593 | CLPB | c.*111C>A (n.*111C>A) n.582C>A c.511C>A (p.Leu171Ile) c.386C>A (p.Thr129Asn) c.-3C>A (n.-3C>A) c.456-22613C>A (n.456-22613C>A) c.376C>A (p.Leu126Ile) n.338C>A c.526C>A (p.Leu176Ile) c.73C>A (p.Leu25Ile) | |
| 11 | g.72402998T>A | CA475818847 | CLPB | c.*110A>T (n.*110A>T) n.581A>T c.510A>T (p.Ala170=) c.385A>T (p.Thr129Ser) c.-4A>T (n.-4A>T) c.456-22614A>T (n.456-22614A>T) c.375A>T (p.Ala125=) n.337A>T c.525A>T (p.Ala175=) c.72A>T (p.Ala24=) | |
| 11 | g.72402998T>C | CA475818845 | CLPB | c.*110A>G (n.*110A>G) n.581A>G c.510A>G (p.Ala170=) c.385A>G (p.Thr129Ala) c.-4A>G (n.-4A>G) c.456-22614A>G (n.456-22614A>G) c.375A>G (p.Ala125=) n.337A>G c.525A>G (p.Ala175=) c.72A>G (p.Ala24=) | gnomAD v4 |
| 11 | g.72402998T>G | CA475818846 | CLPB | c.*110A>C (n.*110A>C) n.581A>C c.510A>C (p.Ala170=) c.385A>C (p.Thr129Pro) c.-4A>C (n.-4A>C) c.456-22614A>C (n.456-22614A>C) c.375A>C (p.Ala125=) n.337A>C c.525A>C (p.Ala175=) c.72A>C (p.Ala24=) | dbSNP gnomAD v4 |
| 11 | g.72402998T= | CA1981971600 | CLPB | c.*110A= (n.*110A=) n.581A= c.510A= (p.Ala170=) c.385A= (p.Thr129=) c.-4A= (n.-4A=) c.456-22614A= (n.456-22614A=) c.375A= (p.Ala125=) n.337A= c.525A= (p.Ala175=) c.72A= (p.Ala24=) | |
| 11 | g.72402999G>A | CA381964594 | CLPB | c.*109C>T (n.*109C>T) n.580C>T c.509C>T (p.Ala170Val) c.384C>T (p.Ser128=) c.-5C>T (n.-5C>T) c.456-22615C>T (n.456-22615C>T) c.374C>T (p.Ala125Val) n.336C>T c.524C>T (p.Ala175Val) c.71C>T (p.Ala24Val) | |
| 11 | g.72402999G>C | CA381964595 | CLPB | c.*109C>G (n.*109C>G) n.580C>G c.509C>G (p.Ala170Gly) c.384C>G (p.Ser128Arg) c.-5C>G (n.-5C>G) c.456-22615C>G (n.456-22615C>G) c.374C>G (p.Ala125Gly) n.336C>G c.524C>G (p.Ala175Gly) c.71C>G (p.Ala24Gly) | |
| 11 | g.72402999G>T | CA381964596 | CLPB | c.*109C>A (n.*109C>A) n.580C>A c.509C>A (p.Ala170Glu) c.384C>A (p.Ser128Arg) c.-5C>A (n.-5C>A) c.456-22615C>A (n.456-22615C>A) c.374C>A (p.Ala125Glu) n.336C>A c.524C>A (p.Ala175Glu) c.71C>A (p.Ala24Glu) | |
| 11 | g.72403000C>A | CA381964597 | CLPB | c.*108G>T (n.*108G>T) n.579G>T c.508G>T (p.Ala170Ser) c.383G>T (p.Ser128Ile) c.-6G>T (n.-6G>T) c.456-22616G>T (n.456-22616G>T) c.373G>T (p.Ala125Ser) n.335G>T c.523G>T (p.Ala175Ser) c.70G>T (p.Ala24Ser) | |
| 11 | g.72403000C>G | CA381964599 | CLPB | c.*108G>C (n.*108G>C) n.579G>C c.508G>C (p.Ala170Pro) c.383G>C (p.Ser128Thr) c.-6G>C (n.-6G>C) c.456-22616G>C (n.456-22616G>C) c.373G>C (p.Ala125Pro) n.335G>C c.523G>C (p.Ala175Pro) c.70G>C (p.Ala24Pro) | |
| 11 | g.72403000C>T | CA381964598 | CLPB | c.*108G>A (n.*108G>A) n.579G>A c.508G>A (p.Ala170Thr) c.383G>A (p.Ser128Asn) c.-6G>A (n.-6G>A) c.456-22616G>A (n.456-22616G>A) c.373G>A (p.Ala125Thr) n.335G>A c.523G>A (p.Ala175Thr) c.70G>A (p.Ala24Thr) | |
| 11 | g.72403001T>A | CA475818851 | CLPB | c.*107A>T (n.*107A>T) n.578A>T c.507A>T (p.Thr169=) c.382A>T (p.Ser128Cys) c.-7A>T (n.-7A>T) c.456-22617A>T (n.456-22617A>T) c.372A>T (p.Thr124=) n.334A>T c.522A>T (p.Thr174=) c.69A>T (p.Thr23=) | |
| 11 | g.72403001T>C | CA475818852 | CLPB | c.*107A>G (n.*107A>G) n.578A>G c.507A>G (p.Thr169=) c.382A>G (p.Ser128Gly) c.-7A>G (n.-7A>G) c.456-22617A>G (n.456-22617A>G) c.372A>G (p.Thr124=) n.334A>G c.522A>G (p.Thr174=) c.69A>G (p.Thr23=) | |
| 11 | g.72403001T>G | CA475818853 | CLPB | c.*107A>C (n.*107A>C) n.578A>C c.507A>C (p.Thr169=) c.382A>C (p.Ser128Arg) c.-7A>C (n.-7A>C) c.456-22617A>C (n.456-22617A>C) c.372A>C (p.Thr124=) n.334A>C c.522A>C (p.Thr174=) c.69A>C (p.Thr23=) | |
| 11 | g.72403002G>A | CA381964600 | CLPB | c.*106C>T (n.*106C>T) n.577C>T c.506C>T (p.Thr169Ile) c.381C>T (p.Asp127=) c.-8C>T (n.-8C>T) c.456-22618C>T (n.456-22618C>T) c.371C>T (p.Thr124Ile) n.333C>T c.521C>T (p.Thr174Ile) c.68C>T (p.Thr23Ile) | ClinVar gnomAD v4 |
| 11 | g.72403002G>C | CA381964601 | CLPB | c.*106C>G (n.*106C>G) n.577C>G c.506C>G (p.Thr169Arg) c.381C>G (p.Asp127Glu) c.-8C>G (n.-8C>G) c.456-22618C>G (n.456-22618C>G) c.371C>G (p.Thr124Arg) n.333C>G c.521C>G (p.Thr174Arg) c.68C>G (p.Thr23Arg) | |
| 11 | g.72403002G>T | CA381964602 | CLPB | c.*106C>A (n.*106C>A) n.577C>A c.506C>A (p.Thr169Lys) c.381C>A (p.Asp127Glu) c.-8C>A (n.-8C>A) c.456-22618C>A (n.456-22618C>A) c.371C>A (p.Thr124Lys) n.333C>A c.521C>A (p.Thr174Lys) c.68C>A (p.Thr23Lys) | |
| 11 | g.72403003T>A | CA381964603 | CLPB | c.*105A>T (n.*105A>T) n.576A>T c.505A>T (p.Thr169Ser) c.380A>T (p.Asp127Val) c.-9A>T (n.-9A>T) c.456-22619A>T (n.456-22619A>T) c.370A>T (p.Thr124Ser) n.332A>T c.520A>T (p.Thr174Ser) c.67A>T (p.Thr23Ser) | |
| 11 | g.72403003T>C | CA381964604 | CLPB | c.*105A>G (n.*105A>G) n.576A>G c.505A>G (p.Thr169Ala) c.380A>G (p.Asp127Gly) c.-9A>G (n.-9A>G) c.456-22619A>G (n.456-22619A>G) c.370A>G (p.Thr124Ala) n.332A>G c.520A>G (p.Thr174Ala) c.67A>G (p.Thr23Ala) | gnomAD v4 |
| 11 | g.72403003T>G | CA381964605 | CLPB | c.*105A>C (n.*105A>C) n.576A>C c.505A>C (p.Thr169Pro) c.380A>C (p.Asp127Ala) c.-9A>C (n.-9A>C) c.456-22619A>C (n.456-22619A>C) c.370A>C (p.Thr124Pro) n.332A>C c.520A>C (p.Thr174Pro) c.67A>C (p.Thr23Pro) | |
| 11 | g.72403004C>A | CA381964606 | CLPB | c.*104G>T (n.*104G>T) n.575G>T c.504G>T (p.Trp168Cys) c.379G>T (p.Asp127Tyr) c.-10G>T (n.-10G>T) c.456-22620G>T (n.456-22620G>T) c.369G>T (p.Trp123Cys) n.331G>T c.519G>T (p.Trp173Cys) c.66G>T (p.Trp22Cys) | |
| 11 | g.72403004C>G | CA381964607 | CLPB | c.*104G>C (n.*104G>C) n.575G>C c.504G>C (p.Trp168Cys) c.379G>C (p.Asp127His) c.-10G>C (n.-10G>C) c.456-22620G>C (n.456-22620G>C) c.369G>C (p.Trp123Cys) n.331G>C c.519G>C (p.Trp173Cys) c.66G>C (p.Trp22Cys) | |
| 11 | g.72403004C>T | CA381964608 | CLPB | c.*104G>A (n.*104G>A) n.575G>A c.504G>A (p.Trp168Ter) c.379G>A (p.Asp127Asn) c.-10G>A (n.-10G>A) c.456-22620G>A (n.456-22620G>A) c.369G>A (p.Trp123Ter) n.331G>A c.519G>A (p.Trp173Ter) c.66G>A (p.Trp22Ter) | |
| 11 | g.72403005C>A | CA381964609 | CLPB | c.*103G>T (n.*103G>T) n.574G>T c.503G>T (p.Trp168Leu) c.378G>T (p.Leu126=) c.-11G>T (n.-11G>T) c.456-22621G>T (n.456-22621G>T) c.368G>T (p.Trp123Leu) n.330G>T c.518G>T (p.Trp173Leu) c.65G>T (p.Trp22Leu) | |
| 11 | g.72403005C>G | CA381964610 | CLPB | c.*103G>C (n.*103G>C) n.574G>C c.503G>C (p.Trp168Ser) c.378G>C (p.Leu126=) c.-11G>C (n.-11G>C) c.456-22621G>C (n.456-22621G>C) c.368G>C (p.Trp123Ser) n.330G>C c.518G>C (p.Trp173Ser) c.65G>C (p.Trp22Ser) | |
| 11 | g.72403005C>T | CA381964611 | CLPB | c.*103G>A (n.*103G>A) n.574G>A c.503G>A (p.Trp168Ter) c.378G>A (p.Leu126=) c.-11G>A (n.-11G>A) c.456-22621G>A (n.456-22621G>A) c.368G>A (p.Trp123Ter) n.330G>A c.518G>A (p.Trp173Ter) c.65G>A (p.Trp22Ter) | |
| 11 | g.72403006A>C | CA381964614 | CLPB | c.*102T>G (n.*102T>G) n.573T>G c.502T>G (p.Trp168Gly) c.377T>G (p.Leu126Arg) c.-12T>G (n.-12T>G) c.456-22622T>G (n.456-22622T>G) c.367T>G (p.Trp123Gly) n.329T>G c.517T>G (p.Trp173Gly) c.64T>G (p.Trp22Gly) | |
| 11 | g.72403006A>G | CA381964612 | CLPB | c.*102T>C (n.*102T>C) n.573T>C c.502T>C (p.Trp168Arg) c.377T>C (p.Leu126Pro) c.-12T>C (n.-12T>C) c.456-22622T>C (n.456-22622T>C) c.367T>C (p.Trp123Arg) n.329T>C c.517T>C (p.Trp173Arg) c.64T>C (p.Trp22Arg) | gnomAD v4 |
| 11 | g.72403006A>T | CA381964613 | CLPB | c.*102T>A (n.*102T>A) n.573T>A c.502T>A (p.Trp168Arg) c.377T>A (p.Leu126Gln) c.-12T>A (n.-12T>A) c.456-22622T>A (n.456-22622T>A) c.367T>A (p.Trp123Arg) n.329T>A c.517T>A (p.Trp173Arg) c.64T>A (p.Trp22Arg) | |
| 11 | g.72403007G>A | CA475818857 | CLPB | c.*101C>T (n.*101C>T) n.572C>T c.501C>T (p.Gly167=) c.376C>T (p.Leu126=) c.-13C>T (n.-13C>T) c.456-22623C>T (n.456-22623C>T) c.366C>T (p.Gly122=) n.328C>T c.516C>T (p.Gly172=) c.63C>T (p.Gly21=) | gnomAD v4 |
| 11 | g.72403007G>C | CA475818858 | CLPB | c.*101C>G (n.*101C>G) n.572C>G c.501C>G (p.Gly167=) c.376C>G (p.Leu126Val) c.-13C>G (n.-13C>G) c.456-22623C>G (n.456-22623C>G) c.366C>G (p.Gly122=) n.328C>G c.516C>G (p.Gly172=) c.63C>G (p.Gly21=) | |
| 11 | g.72403007G>T | CA475818859 | CLPB | c.*101C>A (n.*101C>A) n.572C>A c.501C>A (p.Gly167=) c.376C>A (p.Leu126Met) c.-13C>A (n.-13C>A) c.456-22623C>A (n.456-22623C>A) c.366C>A (p.Gly122=) n.328C>A c.516C>A (p.Gly172=) c.63C>A (p.Gly21=) | |
| 11 | g.72403008C>A | CA381964615 | CLPB | c.*100G>T (n.*100G>T) n.571G>T c.500G>T (p.Gly167Val) c.375G>T (p.Trp125Cys) c.-14G>T (n.-14G>T) c.456-22624G>T (n.456-22624G>T) c.365G>T (p.Gly122Val) n.327G>T c.515G>T (p.Gly172Val) c.62G>T (p.Gly21Val) | dbSNP |
| 11 | g.72403008C= | CA1981971601 | CLPB | c.*100G= (n.*100G=) n.571G= c.500G= (p.Gly167=) c.375G= (p.Trp125=) c.-14G= (n.-14G=) c.456-22624G= (n.456-22624G=) c.365G= (p.Gly122=) n.327G= c.515G= (p.Gly172=) c.62G= (p.Gly21=) | |
| 11 | g.72403008C>G | CA381964616 | CLPB | c.*100G>C (n.*100G>C) n.571G>C c.500G>C (p.Gly167Ala) c.375G>C (p.Trp125Cys) c.-14G>C (n.-14G>C) c.456-22624G>C (n.456-22624G>C) c.365G>C (p.Gly122Ala) n.327G>C c.515G>C (p.Gly172Ala) c.62G>C (p.Gly21Ala) | |
| 11 | g.72403008C>T | CA381964617 | CLPB | c.*100G>A (n.*100G>A) n.571G>A c.500G>A (p.Gly167Asp) c.375G>A (p.Trp125Ter) c.-14G>A (n.-14G>A) c.456-22624G>A (n.456-22624G>A) c.365G>A (p.Gly122Asp) n.327G>A c.515G>A (p.Gly172Asp) c.62G>A (p.Gly21Asp) | |
| 11 | g.72403009C>A | CA381964618 | CLPB | c.*99G>T (n.*99G>T) n.570G>T c.499G>T (p.Gly167Cys) c.374G>T (p.Trp125Leu) c.-15G>T (n.-15G>T) c.456-22625G>T (n.456-22625G>T) c.364G>T (p.Gly122Cys) n.326G>T c.514G>T (p.Gly172Cys) c.61G>T (p.Gly21Cys) | dbSNP |