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.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 |
| 12 | g.101770107G>C | CA386302636 | GNPTAB | c.1198C>G (p.Gln400Glu) c.1117C>G (p.Gln373Glu) c.982C>G (p.Gln328Glu) c.-30C>G (n.-30C>G) | |
| 12 | g.101770107G>T | CA386302634 | GNPTAB | c.1198C>A (p.Gln400Lys) c.1117C>A (p.Gln373Lys) c.982C>A (p.Gln328Lys) c.-30C>A (n.-30C>A) | |
| 12 | g.101770108G>A | CA481577864 | GNPTAB | c.1197C>T (p.Ser399=) c.1116C>T (p.Ser372=) c.981C>T (p.Ser327=) c.-31C>T (n.-31C>T) | |
| 12 | g.101770108G>C | CA481577865 | GNPTAB | c.1197C>G (p.Ser399=) c.1116C>G (p.Ser372=) c.981C>G (p.Ser327=) c.-31C>G (n.-31C>G) | |
| 12 | g.101770108G>T | CA481577866 | GNPTAB | c.1197C>A (p.Ser399=) c.1116C>A (p.Ser372=) c.981C>A (p.Ser327=) c.-31C>A (n.-31C>A) | gnomAD v4 |
| 12 | g.101770109G>A | CA343061 | GNPTAB | c.1196C>T (p.Ser399Phe) c.1115C>T (p.Ser372Phe) c.980C>T (p.Ser327Phe) c.-32C>T (n.-32C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770109G>C | CA386302639 | GNPTAB | c.1196C>G (p.Ser399Cys) c.1115C>G (p.Ser372Cys) c.980C>G (p.Ser327Cys) c.-32C>G (n.-32C>G) | |
| 12 | g.101770109G= | CA2058957870 | GNPTAB | c.1196C= (p.Ser399=) c.1115C= (p.Ser372=) c.980C= (p.Ser327=) c.-32C= (n.-32C=) | |
| 12 | g.101770109G>T | CA386302641 | GNPTAB | c.1196C>A (p.Ser399Tyr) c.1115C>A (p.Ser372Tyr) c.980C>A (p.Ser327Tyr) c.-32C>A (n.-32C>A) | |
| 12 | g.101770110A= | CA2058957871 | GNPTAB | c.1195T= (p.Ser399=) c.1114T= (p.Ser372=) c.979T= (p.Ser327=) c.-33T= (n.-33T=) | |
| 12 | g.101770110A>C | CA386302642 | GNPTAB | c.1195T>G (p.Ser399Ala) c.1114T>G (p.Ser372Ala) c.979T>G (p.Ser327Ala) c.-33T>G (n.-33T>G) | |
| 12 | g.101770110A>G | CA6746684 | GNPTAB | c.1195T>C (p.Ser399Pro) c.1114T>C (p.Ser372Pro) c.979T>C (p.Ser327Pro) c.-33T>C (n.-33T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101770110A>T | CA386302645 | GNPTAB | c.1195T>A (p.Ser399Thr) c.1114T>A (p.Ser372Thr) c.979T>A (p.Ser327Thr) c.-33T>A (n.-33T>A) | |
| 12 | g.101770111C>A | CA481577867 | GNPTAB | c.1194G>T (p.Leu398=) c.1113G>T (p.Leu371=) c.978G>T (p.Leu326=) c.-34G>T (n.-34G>T) | gnomAD v4 |
| 12 | g.101770111C>G | CA481577868 | GNPTAB | c.1194G>C (p.Leu398=) c.1113G>C (p.Leu371=) c.978G>C (p.Leu326=) c.-34G>C (n.-34G>C) | |
| 12 | g.101770111C>T | CA481577869 | GNPTAB | c.1194G>A (p.Leu398=) c.1113G>A (p.Leu371=) c.978G>A (p.Leu326=) c.-34G>A (n.-34G>A) | |
| 12 | g.101770112_101770115dup | CA343338 | GNPTAB | c.1191_1194dup (p.Ser399AlafsTer10) c.1110_1113dup (p.Ser372AlafsTer10) c.975_978dup (p.Ser327AlafsTer10) c.-37_-34dup (n.-37_-34dup) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101770112A= | CA2058957872 | GNPTAB | c.1193T= (p.Leu398=) c.1112T= (p.Leu371=) c.977T= (p.Leu326=) c.-35T= (n.-35T=) | |
| 12 | g.101770112A>C | CA386302648 | GNPTAB | c.1193T>G (p.Leu398Arg) c.1112T>G (p.Leu371Arg) c.977T>G (p.Leu326Arg) c.-35T>G (n.-35T>G) | |
| 12 | g.101770112A>G | CA386302650 | GNPTAB | c.1193T>C (p.Leu398Pro) c.1112T>C (p.Leu371Pro) c.977T>C (p.Leu326Pro) c.-35T>C (n.-35T>C) | |
| 12 | g.101770112A>T | CA386302651 | GNPTAB | c.1193T>A (p.Leu398Gln) c.1112T>A (p.Leu371Gln) c.977T>A (p.Leu326Gln) c.-35T>A (n.-35T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101770113G>A | CA6746685 | GNPTAB | c.1192C>T (p.Leu398=) c.1111C>T (p.Leu371=) c.976C>T (p.Leu326=) c.-36C>T (n.-36C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770113G>C | CA386302653 | GNPTAB | c.1192C>G (p.Leu398Val) c.1111C>G (p.Leu371Val) c.976C>G (p.Leu326Val) c.-36C>G (n.-36C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101770113G= | CA2058957873 | GNPTAB | c.1192C= (p.Leu398=) c.1111C= (p.Leu371=) c.976C= (p.Leu326=) c.-36C= (n.-36C=) | |
| 12 | g.101770113G>T | CA386302654 | GNPTAB | c.1192C>A (p.Leu398Met) c.1111C>A (p.Leu371Met) c.976C>A (p.Leu326Met) c.-36C>A (n.-36C>A) | |
| 12 | g.101770113_101770114delinsGC | CA2058957874 | GNPTAB | c.1191_1192delinsGC (p.Gly397=) c.1110_1111delinsGC (p.Gly370=) c.975_976delinsGC (p.Gly325=) c.-37_-36delinsGC (n.-37_-36delinsGC) | |
| 12 | g.101770114C>A | CA481577870 | GNPTAB | c.1191G>T (p.Gly397=) c.1110G>T (p.Gly370=) c.975G>T (p.Gly325=) c.-37G>T (n.-37G>T) | |
| 12 | g.101770114C>G | CA481577871 | GNPTAB | c.1191G>C (p.Gly397=) c.1110G>C (p.Gly370=) c.975G>C (p.Gly325=) c.-37G>C (n.-37G>C) | |
| 12 | g.101770114C>T | CA481577872 | GNPTAB | c.1191G>A (p.Gly397=) c.1110G>A (p.Gly370=) c.975G>A (p.Gly325=) c.-37G>A (n.-37G>A) | ClinVar |
| 12 | g.101770116del | CA607597855 | GNPTAB | c.1191del (p.Leu398CysfsTer8) c.1110del (p.Leu371CysfsTer8) c.975del (p.Leu326CysfsTer8) c.-37del (n.-37del) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101770115C>A | CA386302657 | GNPTAB | c.1190G>T (p.Gly397Val) c.1109G>T (p.Gly370Val) c.974G>T (p.Gly325Val) c.-38G>T (n.-38G>T) | |
| 12 | g.101770115C>G | CA386302658 | GNPTAB | c.1190G>C (p.Gly397Ala) c.1109G>C (p.Gly370Ala) c.974G>C (p.Gly325Ala) c.-38G>C (n.-38G>C) | |
| 12 | g.101770115C>T | CA386302655 | GNPTAB | c.1190G>A (p.Gly397Glu) c.1109G>A (p.Gly370Glu) c.974G>A (p.Gly325Glu) c.-38G>A (n.-38G>A) | gnomAD v4 |
| 12 | g.101770116C>A | CA386302660 | GNPTAB | c.1189G>T (p.Gly397Trp) c.1108G>T (p.Gly370Trp) c.973G>T (p.Gly325Trp) c.-39G>T (n.-39G>T) | |
| 12 | g.101770116C>G | CA386302662 | GNPTAB | c.1189G>C (p.Gly397Arg) c.1108G>C (p.Gly370Arg) c.973G>C (p.Gly325Arg) c.-39G>C (n.-39G>C) | |
| 12 | g.101770116C>T | CA386302663 | GNPTAB | c.1189G>A (p.Gly397Arg) c.1108G>A (p.Gly370Arg) c.973G>A (p.Gly325Arg) c.-39G>A (n.-39G>A) | |
| 12 | g.101770117T>A | CA386302664 | GNPTAB | c.1188A>T (p.Glu396Asp) c.1107A>T (p.Glu369Asp) c.972A>T (p.Glu324Asp) c.-40A>T (n.-40A>T) | |
| 12 | g.101770117T>C | CA481577873 | GNPTAB | c.1188A>G (p.Glu396=) c.1107A>G (p.Glu369=) c.972A>G (p.Glu324=) c.-40A>G (n.-40A>G) | ClinVar gnomAD v4 |
| 12 | g.101770117T>G | CA386302665 | GNPTAB | c.1188A>C (p.Glu396Asp) c.1107A>C (p.Glu369Asp) c.972A>C (p.Glu324Asp) c.-40A>C (n.-40A>C) | |
| 12 | g.101770118T>A | CA386302671 | GNPTAB | c.1187A>T (p.Glu396Val) c.1106A>T (p.Glu369Val) c.971A>T (p.Glu324Val) c.-41A>T (n.-41A>T) | |
| 12 | g.101770118T>C | CA386302669 | GNPTAB | c.1187A>G (p.Glu396Gly) c.1106A>G (p.Glu369Gly) c.971A>G (p.Glu324Gly) c.-41A>G (n.-41A>G) | |
| 12 | g.101770118T>G | CA386302667 | GNPTAB | c.1187A>C (p.Glu396Ala) c.1106A>C (p.Glu369Ala) c.971A>C (p.Glu324Ala) c.-41A>C (n.-41A>C) | |
| 12 | g.101770119C>A | CA386302672 | GNPTAB | c.1186G>T (p.Glu396Ter) c.1105G>T (p.Glu369Ter) c.970G>T (p.Glu324Ter) c.-42G>T (n.-42G>T) | ClinVar dbSNP |