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 |
|---|---|---|---|---|---|
| 12 | g.101770493C>A | CA386303187 | GNPTAB | c.1026G>T (p.Trp342Cys) c.945G>T (p.Trp315Cys) c.810G>T (p.Trp270Cys) c.-202G>T (n.-202G>T) | gnomAD v4 |
| 12 | g.101770493C= | CA2058958005 | GNPTAB | c.1026G= (p.Trp342=) c.945G= (p.Trp315=) c.810G= (p.Trp270=) c.-202G= (n.-202G=) | |
| 12 | g.101770493C>G | CA386303189 | GNPTAB | c.1026G>C (p.Trp342Cys) c.945G>C (p.Trp315Cys) c.810G>C (p.Trp270Cys) c.-202G>C (n.-202G>C) | |
| 12 | g.101770493C>T | CA386303190 | GNPTAB | c.1026G>A (p.Trp342Ter) c.945G>A (p.Trp315Ter) c.810G>A (p.Trp270Ter) c.-202G>A (n.-202G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.101770494C>A | CA386303191 | GNPTAB | c.1025G>T (p.Trp342Leu) c.944G>T (p.Trp315Leu) c.809G>T (p.Trp270Leu) c.-203G>T (n.-203G>T) | |
| 12 | g.101770494C>G | CA386303193 | GNPTAB | c.1025G>C (p.Trp342Ser) c.944G>C (p.Trp315Ser) c.809G>C (p.Trp270Ser) c.-203G>C (n.-203G>C) | |
| 12 | g.101770494C>T | CA386303194 | GNPTAB | c.1025G>A (p.Trp342Ter) c.944G>A (p.Trp315Ter) c.809G>A (p.Trp270Ter) c.-203G>A (n.-203G>A) | |
| 12 | g.101770495A= | CA2058958006 | GNPTAB | c.1024T= (p.Trp342=) c.943T= (p.Trp315=) c.808T= (p.Trp270=) c.-204T= (n.-204T=) | |
| 12 | g.101770495A>C | CA386303200 | GNPTAB | c.1024T>G (p.Trp342Gly) c.943T>G (p.Trp315Gly) c.808T>G (p.Trp270Gly) c.-204T>G (n.-204T>G) | |
| 12 | g.101770495A>G | CA386303198 | GNPTAB | c.1024T>C (p.Trp342Arg) c.943T>C (p.Trp315Arg) c.808T>C (p.Trp270Arg) c.-204T>C (n.-204T>C) | dbSNP |
| 12 | g.101770495A>T | CA386303196 | GNPTAB | c.1024T>A (p.Trp342Arg) c.943T>A (p.Trp315Arg) c.808T>A (p.Trp270Arg) c.-204T>A (n.-204T>A) | |
| 12 | g.101770495_101770498delinsATGG | CA2058958007 | GNPTAB | c.1021_1024delinsCCAT (p.Pro341=) c.940_943delinsCCAT (p.Pro314=) c.805_808delinsCCAT (p.Pro269=) c.-207_-204delinsCCAT (n.-207_-204delinsCCAT) | |
| 12 | g.101770496T>A | CA481320740 | GNPTAB | c.1023A>T (p.Pro341=) c.942A>T (p.Pro314=) c.807A>T (p.Pro269=) c.-205A>T (n.-205A>T) | |
| 12 | g.101770496T>C | CA6746731 | GNPTAB | c.1023A>G (p.Pro341=) c.942A>G (p.Pro314=) c.807A>G (p.Pro269=) c.-205A>G (n.-205A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770496T>G | CA481320742 | GNPTAB | c.1023A>C (p.Pro341=) c.942A>C (p.Pro314=) c.807A>C (p.Pro269=) c.-205A>C (n.-205A>C) | ClinVar |
| 12 | g.101770496T= | CA2058958008 | GNPTAB | c.1023A= (p.Pro341=) c.942A= (p.Pro314=) c.807A= (p.Pro269=) c.-205A= (n.-205A=) | |
| 12 | g.101770496dup | CA682731465 | GNPTAB | c.1023dup (p.Trp342MetfsTer20) c.942dup (p.Trp315MetfsTer20) c.807dup (p.Trp270MetfsTer20) c.-205dup (n.-205dup) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101770498_101770500del | CA16609433 | GNPTAB | c.1021_1023del (p.Pro341del) c.940_942del (p.Pro314del) c.805_807del (p.Pro269del) c.-207_-205del (n.-207_-205del) | ClinVar dbSNP |
| 12 | g.101770497G>A | CA386303203 | GNPTAB | c.1022C>T (p.Pro341Leu) c.941C>T (p.Pro314Leu) c.806C>T (p.Pro269Leu) c.-206C>T (n.-206C>T) | |
| 12 | g.101770497G>C | CA386303205 | GNPTAB | c.1022C>G (p.Pro341Arg) c.941C>G (p.Pro314Arg) c.806C>G (p.Pro269Arg) c.-206C>G (n.-206C>G) | |
| 12 | g.101770497G>T | CA386303206 | GNPTAB | c.1022C>A (p.Pro341Gln) c.941C>A (p.Pro314Gln) c.806C>A (p.Pro269Gln) c.-206C>A (n.-206C>A) | |
| 12 | g.101770498dup | CA912973306 | GNPTAB | c.1022dup (p.Trp342MetfsTer20) c.941dup (p.Trp315MetfsTer20) c.806dup (p.Trp270MetfsTer20) c.-206dup (n.-206dup) | |
| 12 | g.101770498del | CA2695217212 | GNPTAB | c.1022del (p.Pro341HisfsTer18) c.941del (p.Pro314HisfsTer18) c.806del (p.Pro269HisfsTer18) c.-206del (n.-206del) | |
| 12 | g.101770497_101770498insTGCA | CA242462565 | GNPTAB | c.1021_1022insTGCA (p.Pro341LeufsTer22) c.940_941insTGCA (p.Pro314LeufsTer22) c.805_806insTGCA (p.Pro269LeufsTer22) c.-207_-206insTGCA (n.-207_-206insTGCA) | |
| 12 | g.101770498G>A | CA6746733 | GNPTAB | c.1021C>T (p.Pro341Ser) c.940C>T (p.Pro314Ser) c.805C>T (p.Pro269Ser) c.-207C>T (n.-207C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770498G>C | CA386303210 | GNPTAB | c.1021C>G (p.Pro341Ala) c.940C>G (p.Pro314Ala) c.805C>G (p.Pro269Ala) c.-207C>G (n.-207C>G) | |
| 12 | g.101770498G= | CA2058958009 | GNPTAB | c.1021C= (p.Pro341=) c.940C= (p.Pro314=) c.805C= (p.Pro269=) c.-207C= (n.-207C=) | |
| 12 | g.101770498G>T | CA386303211 | GNPTAB | c.1021C>A (p.Pro341Thr) c.940C>A (p.Pro314Thr) c.805C>A (p.Pro269Thr) c.-207C>A (n.-207C>A) | COSMIC COSMIC |
| 12 | g.101770499T>A | CA481320745 | GNPTAB | c.1020A>T (p.Ala340=) c.939A>T (p.Ala313=) c.804A>T (p.Ala268=) c.-208A>T (n.-208A>T) | |
| 12 | g.101770499T>C | CA481320743 | GNPTAB | c.1020A>G (p.Ala340=) c.939A>G (p.Ala313=) c.804A>G (p.Ala268=) c.-208A>G (n.-208A>G) | |
| 12 | g.101770499T>G | CA481320744 | GNPTAB | c.1020A>C (p.Ala340=) c.939A>C (p.Ala313=) c.804A>C (p.Ala268=) c.-208A>C (n.-208A>C) | |
| 12 | g.101770502_101770505dup | CA6746732 | GNPTAB | c.1017_1020dup (p.Pro341CysfsTer22) c.936_939dup (p.Pro314CysfsTer22) c.801_804dup (p.Pro269CysfsTer22) c.-211_-208dup (n.-211_-208dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101770500G>A | CA386303212 | GNPTAB | c.1019C>T (p.Ala340Val) c.938C>T (p.Ala313Val) c.803C>T (p.Ala268Val) c.-209C>T (n.-209C>T) | |
| 12 | g.101770500G>C | CA386303213 | GNPTAB | c.1019C>G (p.Ala340Gly) c.938C>G (p.Ala313Gly) c.803C>G (p.Ala268Gly) c.-209C>G (n.-209C>G) | |
| 12 | g.101770500G>T | CA386303214 | GNPTAB | c.1019C>A (p.Ala340Glu) c.938C>A (p.Ala313Glu) c.803C>A (p.Ala268Glu) c.-209C>A (n.-209C>A) | |
| 12 | g.101770501C>A | CA386303217 | GNPTAB | c.1018G>T (p.Ala340Ser) c.937G>T (p.Ala313Ser) c.802G>T (p.Ala268Ser) c.-210G>T (n.-210G>T) | |
| 12 | g.101770501C= | CA2058958010 | GNPTAB | c.1018G= (p.Ala340=) c.937G= (p.Ala313=) c.802G= (p.Ala268=) c.-210G= (n.-210G=) | |
| 12 | g.101770501C>G | CA386303216 | GNPTAB | c.1018G>C (p.Ala340Pro) c.937G>C (p.Ala313Pro) c.802G>C (p.Ala268Pro) c.-210G>C (n.-210G>C) | |
| 12 | g.101770501C>T | CA386303215 | GNPTAB | c.1018G>A (p.Ala340Thr) c.937G>A (p.Ala313Thr) c.802G>A (p.Ala268Thr) c.-210G>A (n.-210G>A) | dbSNP |
| 12 | g.101770502A>C | CA386303218 | GNPTAB | c.1017T>G (p.His339Gln) c.936T>G (p.His312Gln) c.801T>G (p.His267Gln) c.-211T>G (n.-211T>G) | |
| 12 | g.101770502A>G | CA481320746 | GNPTAB | c.1017T>C (p.His339=) c.936T>C (p.His312=) c.801T>C (p.His267=) c.-211T>C (n.-211T>C) | |
| 12 | g.101770502A>T | CA386303219 | GNPTAB | c.1017T>A (p.His339Gln) c.936T>A (p.His312Gln) c.801T>A (p.His267Gln) c.-211T>A (n.-211T>A) | |
| 12 | g.101770503T>A | CA386303220 | GNPTAB | c.1016A>T (p.His339Leu) c.935A>T (p.His312Leu) c.800A>T (p.His267Leu) c.-212A>T (n.-212A>T) | |
| 12 | g.101770503T>C | CA6746734 | GNPTAB | c.1016A>G (p.His339Arg) c.935A>G (p.His312Arg) c.800A>G (p.His267Arg) c.-212A>G (n.-212A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770503T>G | CA386303221 | GNPTAB | c.1016A>C (p.His339Pro) c.935A>C (p.His312Pro) c.800A>C (p.His267Pro) c.-212A>C (n.-212A>C) | |
| 12 | g.101770503T= | CA2058958011 | GNPTAB | c.1016A= (p.His339=) c.935A= (p.His312=) c.800A= (p.His267=) c.-212A= (n.-212A=) | |
| 12 | g.101770503dup | CA2695217213 | GNPTAB | c.1016dup (p.His339GlnfsTer23) c.935dup (p.His312GlnfsTer23) c.800dup (p.His267GlnfsTer23) c.-212dup (n.-212dup) | |
| 12 | g.101770504G>A | CA386303222 | GNPTAB | c.1015C>T (p.His339Tyr) c.934C>T (p.His312Tyr) c.799C>T (p.His267Tyr) c.-213C>T (n.-213C>T) | |
| 12 | g.101770504G>C | CA386303223 | GNPTAB | c.1015C>G (p.His339Asp) c.934C>G (p.His312Asp) c.799C>G (p.His267Asp) c.-213C>G (n.-213C>G) | |
| 12 | g.101770504G>T | CA386303224 | GNPTAB | c.1015C>A (p.His339Asn) c.934C>A (p.His312Asn) c.799C>A (p.His267Asn) c.-213C>A (n.-213C>A) |