UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101770093G>A | CA481577858 | GNPTAB | c.1212C>T (p.Tyr404=) c.1131C>T (p.Tyr377=) c.996C>T (p.Tyr332=) c.-16C>T (n.-16C>T) | |
| 12 | g.101770093G>C | CA386302580 | GNPTAB | c.1212C>G (p.Tyr404Ter) c.1131C>G (p.Tyr377Ter) c.996C>G (p.Tyr332Ter) c.-16C>G (n.-16C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101770093G= | CA2058957864 | GNPTAB | c.1212C= (p.Tyr404=) c.1131C= (p.Tyr377=) c.996C= (p.Tyr332=) c.-16C= (n.-16C=) | |
| 12 | g.101770093G>T | CA386302582 | GNPTAB | c.1212C>A (p.Tyr404Ter) c.1131C>A (p.Tyr377Ter) c.996C>A (p.Tyr332Ter) c.-16C>A (n.-16C>A) | |
| 12 | g.101770094T>A | CA386302583 | GNPTAB | c.1211A>T (p.Tyr404Phe) c.1130A>T (p.Tyr377Phe) c.995A>T (p.Tyr332Phe) c.-17A>T (n.-17A>T) | |
| 12 | g.101770094T>C | CA386302585 | GNPTAB | c.1211A>G (p.Tyr404Cys) c.1130A>G (p.Tyr377Cys) c.995A>G (p.Tyr332Cys) c.-17A>G (n.-17A>G) | |
| 12 | g.101770094T>G | CA386302586 | GNPTAB | c.1211A>C (p.Tyr404Ser) c.1130A>C (p.Tyr377Ser) c.995A>C (p.Tyr332Ser) c.-17A>C (n.-17A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101770094T= | CA2058957865 | GNPTAB | c.1211A= (p.Tyr404=) c.1130A= (p.Tyr377=) c.995A= (p.Tyr332=) c.-17A= (n.-17A=) | |
| 12 | g.101770095A>C | CA386302588 | GNPTAB | c.1210T>G (p.Tyr404Asp) c.1129T>G (p.Tyr377Asp) c.994T>G (p.Tyr332Asp) c.-18T>G (n.-18T>G) | |
| 12 | g.101770095A>G | CA386302589 | GNPTAB | c.1210T>C (p.Tyr404His) c.1129T>C (p.Tyr377His) c.994T>C (p.Tyr332His) c.-18T>C (n.-18T>C) | |
| 12 | g.101770095A>T | CA386302591 | GNPTAB | c.1210T>A (p.Tyr404Asn) c.1129T>A (p.Tyr377Asn) c.994T>A (p.Tyr332Asn) c.-18T>A (n.-18T>A) | |
| 12 | g.101770096A= | CA2058957866 | GNPTAB | c.1209T= (p.Ile403=) c.1128T= (p.Ile376=) c.993T= (p.Ile331=) c.-19T= (n.-19T=) | |
| 12 | g.101770096A>C | CA242462233 | GNPTAB | c.1209T>G (p.Ile403Met) c.1128T>G (p.Ile376Met) c.993T>G (p.Ile331Met) c.-19T>G (n.-19T>G) | ClinVar dbSNP |
| 12 | g.101770096A>G | CA481577859 | GNPTAB | c.1209T>C (p.Ile403=) c.1128T>C (p.Ile376=) c.993T>C (p.Ile331=) c.-19T>C (n.-19T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101770096A>T | CA481577860 | GNPTAB | c.1209T>A (p.Ile403=) c.1128T>A (p.Ile376=) c.993T>A (p.Ile331=) c.-19T>A (n.-19T>A) | |
| 12 | g.101770097A= | CA2058957867 | GNPTAB | c.1208T= (p.Ile403=) c.1127T= (p.Ile376=) c.992T= (p.Ile331=) c.-20T= (n.-20T=) | |
| 12 | g.101770097A>C | CA386302593 | GNPTAB | c.1208T>G (p.Ile403Ser) c.1127T>G (p.Ile376Ser) c.992T>G (p.Ile331Ser) c.-20T>G (n.-20T>G) | |
| 12 | g.101770097A>G | CA343340 | GNPTAB | c.1208T>C (p.Ile403Thr) c.1127T>C (p.Ile376Thr) c.992T>C (p.Ile331Thr) c.-20T>C (n.-20T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101770097A>T | CA386302595 | GNPTAB | c.1208T>A (p.Ile403Asn) c.1127T>A (p.Ile376Asn) c.992T>A (p.Ile331Asn) c.-20T>A (n.-20T>A) | |
| 12 | g.101770098T>A | CA386302597 | GNPTAB | c.1207A>T (p.Ile403Phe) c.1126A>T (p.Ile376Phe) c.991A>T (p.Ile331Phe) c.-21A>T (n.-21A>T) | |
| 12 | g.101770098T>C | CA6746682 | GNPTAB | c.1207A>G (p.Ile403Val) c.1126A>G (p.Ile376Val) c.991A>G (p.Ile331Val) c.-21A>G (n.-21A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.101770098T>G | CA386302599 | GNPTAB | c.1207A>C (p.Ile403Leu) c.1126A>C (p.Ile376Leu) c.991A>C (p.Ile331Leu) c.-21A>C (n.-21A>C) | |
| 12 | g.101770098T= | CA2058957868 | GNPTAB | c.1207A= (p.Ile403=) c.1126A= (p.Ile376=) c.991A= (p.Ile331=) c.-21A= (n.-21A=) | |
| 12 | g.101770099A>C | CA386302601 | GNPTAB | c.1206T>G (p.Phe402Leu) c.1125T>G (p.Phe375Leu) c.990T>G (p.Phe330Leu) c.-22T>G (n.-22T>G) | |
| 12 | g.101770099A>G | CA481577861 | GNPTAB | c.1206T>C (p.Phe402=) c.1125T>C (p.Phe375=) c.990T>C (p.Phe330=) c.-22T>C (n.-22T>C) | |
| 12 | g.101770099A>T | CA386302603 | GNPTAB | c.1206T>A (p.Phe402Leu) c.1125T>A (p.Phe375Leu) c.990T>A (p.Phe330Leu) c.-22T>A (n.-22T>A) | |
| 12 | g.101770101dup | CA343339 | GNPTAB | c.1206dup (p.Ile403TyrfsTer5) c.1125dup (p.Ile376TyrfsTer5) c.990dup (p.Ile331TyrfsTer5) c.-22dup (n.-22dup) | ClinVar dbSNP |
| 12 | g.101770100A>C | CA386302605 | GNPTAB | c.1205T>G (p.Phe402Cys) c.1124T>G (p.Phe375Cys) c.989T>G (p.Phe330Cys) c.-23T>G (n.-23T>G) | |
| 12 | g.101770100A>G | CA386302606 | GNPTAB | c.1205T>C (p.Phe402Ser) c.1124T>C (p.Phe375Ser) c.989T>C (p.Phe330Ser) c.-23T>C (n.-23T>C) | |
| 12 | g.101770100A>T | CA386302607 | GNPTAB | c.1205T>A (p.Phe402Tyr) c.1124T>A (p.Phe375Tyr) c.989T>A (p.Phe330Tyr) c.-23T>A (n.-23T>A) | |
| 12 | g.101770101A= | CA2058957869 | GNPTAB | c.1204T= (p.Phe402=) c.1123T= (p.Phe375=) c.988T= (p.Phe330=) c.-24T= (n.-24T=) | |
| 12 | g.101770101A>C | CA386302611 | GNPTAB | c.1204T>G (p.Phe402Val) c.1123T>G (p.Phe375Val) c.988T>G (p.Phe330Val) c.-24T>G (n.-24T>G) | |
| 12 | g.101770101A>G | CA6746683 | GNPTAB | c.1204T>C (p.Phe402Leu) c.1123T>C (p.Phe375Leu) c.988T>C (p.Phe330Leu) c.-24T>C (n.-24T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101770101A>T | CA386302609 | GNPTAB | c.1204T>A (p.Phe402Ile) c.1123T>A (p.Phe375Ile) c.988T>A (p.Phe330Ile) c.-24T>A (n.-24T>A) | |
| 12 | g.101770102C>A | CA386302613 | GNPTAB | c.1203G>T (p.Lys401Asn) c.1122G>T (p.Lys374Asn) c.987G>T (p.Lys329Asn) c.-25G>T (n.-25G>T) | |
| 12 | g.101770102C>G | CA386302615 | GNPTAB | c.1203G>C (p.Lys401Asn) c.1122G>C (p.Lys374Asn) c.987G>C (p.Lys329Asn) c.-25G>C (n.-25G>C) | gnomAD v4 |
| 12 | g.101770102C>T | CA481577862 | GNPTAB | c.1203G>A (p.Lys401=) c.1122G>A (p.Lys374=) c.987G>A (p.Lys329=) c.-25G>A (n.-25G>A) | |
| 12 | g.101770103T>A | CA386302617 | GNPTAB | c.1202A>T (p.Lys401Met) c.1121A>T (p.Lys374Met) c.986A>T (p.Lys329Met) c.-26A>T (n.-26A>T) | |
| 12 | g.101770103T>C | CA386302619 | GNPTAB | c.1202A>G (p.Lys401Arg) c.1121A>G (p.Lys374Arg) c.986A>G (p.Lys329Arg) c.-26A>G (n.-26A>G) | gnomAD v4 |
| 12 | g.101770103T>G | CA386302620 | GNPTAB | c.1202A>C (p.Lys401Thr) c.1121A>C (p.Lys374Thr) c.986A>C (p.Lys329Thr) c.-26A>C (n.-26A>C) | |
| 12 | g.101770104T>A | CA386302622 | GNPTAB | c.1201A>T (p.Lys401Ter) c.1120A>T (p.Lys374Ter) c.985A>T (p.Lys329Ter) c.-27A>T (n.-27A>T) | |
| 12 | g.101770104T>C | CA386302623 | GNPTAB | c.1201A>G (p.Lys401Glu) c.1120A>G (p.Lys374Glu) c.985A>G (p.Lys329Glu) c.-27A>G (n.-27A>G) | |
| 12 | g.101770104T>G | CA386302625 | GNPTAB | c.1201A>C (p.Lys401Gln) c.1120A>C (p.Lys374Gln) c.985A>C (p.Lys329Gln) c.-27A>C (n.-27A>C) | |
| 12 | g.101770105C>A | CA386302626 | GNPTAB | c.1200G>T (p.Gln400His) c.1119G>T (p.Gln373His) c.984G>T (p.Gln328His) c.-28G>T (n.-28G>T) | gnomAD v4 |
| 12 | g.101770105C>G | CA386302628 | GNPTAB | c.1200G>C (p.Gln400His) c.1119G>C (p.Gln373His) c.984G>C (p.Gln328His) c.-28G>C (n.-28G>C) | |
| 12 | g.101770105C>T | CA481577863 | GNPTAB | c.1200G>A (p.Gln400=) c.1119G>A (p.Gln373=) c.984G>A (p.Gln328=) c.-28G>A (n.-28G>A) | |
| 12 | g.101770106T>A | CA386302630 | GNPTAB | c.1199A>T (p.Gln400Leu) c.1118A>T (p.Gln373Leu) c.983A>T (p.Gln328Leu) c.-29A>T (n.-29A>T) | |
| 12 | g.101770106T>C | CA386302631 | GNPTAB | c.1199A>G (p.Gln400Arg) c.1118A>G (p.Gln373Arg) c.983A>G (p.Gln328Arg) c.-29A>G (n.-29A>G) | |
| 12 | g.101770106T>G | CA386302633 | GNPTAB | c.1199A>C (p.Gln400Pro) c.1118A>C (p.Gln373Pro) c.983A>C (p.Gln328Pro) c.-29A>C (n.-29A>C) | gnomAD v4 |
| 12 | g.101770107G>A | CA386302637 | GNPTAB | c.1198C>T (p.Gln400Ter) c.1117C>T (p.Gln373Ter) c.982C>T (p.Gln328Ter) c.-30C>T (n.-30C>T) | gnomAD v4 |