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 |
|---|---|---|---|---|---|
| 8 | g.100920742G>A | CA371640356 | YWHAZ | c.689C>T (p.Ser230Leu) c.458C>T (p.Ser153Leu) c.329C>T (p.Ser110Leu) c.713C>T (p.Ser238Leu) c.464C>T (p.Ser155Leu) c.344C>T (p.Ser115Leu) | gnomAD v4 COSMIC |
| 8 | g.100920742G>C | CA371640357 | YWHAZ | c.689C>G (p.Ser230Trp) c.458C>G (p.Ser153Trp) c.329C>G (p.Ser110Trp) c.713C>G (p.Ser238Trp) c.464C>G (p.Ser155Trp) c.344C>G (p.Ser115Trp) | ClinVar dbSNP |
| 8 | g.100920742G= | CA1806089033 | YWHAZ | c.689C= (p.Ser230=) c.458C= (p.Ser153=) c.329C= (p.Ser110=) c.713C= (p.Ser238=) c.464C= (p.Ser155=) c.344C= (p.Ser115=) | |
| 8 | g.100920742G>T | CA371640358 | YWHAZ | c.689C>A (p.Ser230Ter) c.458C>A (p.Ser153Ter) c.329C>A (p.Ser110Ter) c.713C>A (p.Ser238Ter) c.464C>A (p.Ser155Ter) c.344C>A (p.Ser115Ter) | |
| 8 | g.100920743A>C | CA371640359 | YWHAZ | c.688T>G (p.Ser230Ala) c.457T>G (p.Ser153Ala) c.328T>G (p.Ser110Ala) c.712T>G (p.Ser238Ala) c.463T>G (p.Ser155Ala) c.343T>G (p.Ser115Ala) | |
| 8 | g.100920743A>G | CA371640360 | YWHAZ | c.688T>C (p.Ser230Pro) c.457T>C (p.Ser153Pro) c.328T>C (p.Ser110Pro) c.712T>C (p.Ser238Pro) c.463T>C (p.Ser155Pro) c.343T>C (p.Ser115Pro) | |
| 8 | g.100920743A>T | CA371640361 | YWHAZ | c.688T>A (p.Ser230Thr) c.457T>A (p.Ser153Thr) c.328T>A (p.Ser110Thr) c.712T>A (p.Ser238Thr) c.463T>A (p.Ser155Thr) c.343T>A (p.Ser115Thr) | |
| 8 | g.100920743_100920744dup | CA913190171 | YWHAZ | c.687_688dup (p.Ser230TyrfsTer?) c.456_457dup (p.Ser153TyrfsTer?) c.327_328dup (p.Ser110TyrfsTer?) c.711_712dup (p.Ser238TyrfsTer?) c.462_463dup (p.Ser155TyrfsTer?) c.342_343dup (p.Ser115TyrfsTer?) | ClinVar dbSNP |
| 8 | g.100920744T>A | CA462194499 | YWHAZ | c.687A>T (p.Thr229=) c.456A>T (p.Thr152=) c.327A>T (p.Thr109=) c.711A>T (p.Thr237=) c.462A>T (p.Thr154=) c.342A>T (p.Thr114=) | |
| 8 | g.100920744T>C | CA4829787 | YWHAZ | c.687A>G (p.Thr229=) c.456A>G (p.Thr152=) c.327A>G (p.Thr109=) c.711A>G (p.Thr237=) c.462A>G (p.Thr154=) c.342A>G (p.Thr114=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.100920744T>G | CA462194500 | YWHAZ | c.687A>C (p.Thr229=) c.456A>C (p.Thr152=) c.327A>C (p.Thr109=) c.711A>C (p.Thr237=) c.462A>C (p.Thr154=) c.342A>C (p.Thr114=) | |
| 8 | g.100920744T= | CA1806089034 | YWHAZ | c.687A= (p.Thr229=) c.456A= (p.Thr152=) c.327A= (p.Thr109=) c.711A= (p.Thr237=) c.462A= (p.Thr154=) c.342A= (p.Thr114=) | |
| 8 | g.100920745G>A | CA371640362 | YWHAZ | c.686C>T (p.Thr229Ile) c.455C>T (p.Thr152Ile) c.326C>T (p.Thr109Ile) c.710C>T (p.Thr237Ile) c.461C>T (p.Thr154Ile) c.341C>T (p.Thr114Ile) | gnomAD v4 |
| 8 | g.100920745G>C | CA371640363 | YWHAZ | c.686C>G (p.Thr229Arg) c.455C>G (p.Thr152Arg) c.326C>G (p.Thr109Arg) c.710C>G (p.Thr237Arg) c.461C>G (p.Thr154Arg) c.341C>G (p.Thr114Arg) | |
| 8 | g.100920745G>T | CA371640364 | YWHAZ | c.686C>A (p.Thr229Lys) c.455C>A (p.Thr152Lys) c.326C>A (p.Thr109Lys) c.710C>A (p.Thr237Lys) c.461C>A (p.Thr154Lys) c.341C>A (p.Thr114Lys) | |
| 8 | g.100920746T>A | CA371640367 | YWHAZ | c.685A>T (p.Thr229Ser) c.454A>T (p.Thr152Ser) c.325A>T (p.Thr109Ser) c.709A>T (p.Thr237Ser) c.460A>T (p.Thr154Ser) c.340A>T (p.Thr114Ser) | |
| 8 | g.100920746T>C | CA371640366 | YWHAZ | c.685A>G (p.Thr229Ala) c.454A>G (p.Thr152Ala) c.325A>G (p.Thr109Ala) c.709A>G (p.Thr237Ala) c.460A>G (p.Thr154Ala) c.340A>G (p.Thr114Ala) | |
| 8 | g.100920746T>G | CA371640365 | YWHAZ | c.685A>C (p.Thr229Pro) c.454A>C (p.Thr152Pro) c.325A>C (p.Thr109Pro) c.709A>C (p.Thr237Pro) c.460A>C (p.Thr154Pro) c.340A>C (p.Thr114Pro) | |
| 8 | g.100920747C>A | CA371640368 | YWHAZ | c.684G>T (p.Trp228Cys) c.453G>T (p.Trp151Cys) c.324G>T (p.Trp108Cys) c.708G>T (p.Trp236Cys) c.459G>T (p.Trp153Cys) c.339G>T (p.Trp113Cys) | |
| 8 | g.100920747C>G | CA371640369 | YWHAZ | c.684G>C (p.Trp228Cys) c.453G>C (p.Trp151Cys) c.324G>C (p.Trp108Cys) c.708G>C (p.Trp236Cys) c.459G>C (p.Trp153Cys) c.339G>C (p.Trp113Cys) | COSMIC |
| 8 | g.100920747C>T | CA371640370 | YWHAZ | c.684G>A (p.Trp228Ter) c.453G>A (p.Trp151Ter) c.324G>A (p.Trp108Ter) c.708G>A (p.Trp236Ter) c.459G>A (p.Trp153Ter) c.339G>A (p.Trp113Ter) | |
| 8 | g.100920747_100920748delinsTT | CA645547628 | YWHAZ | c.683_684delinsAA (p.Trp228Ter) c.452_453delinsAA (p.Trp151Ter) c.323_324delinsAA (p.Trp108Ter) c.707_708delinsAA (p.Trp236Ter) c.458_459delinsAA (p.Trp153Ter) c.338_339delinsAA (p.Trp113Ter) | COSMIC |
| 8 | g.100920748C>A | CA371640371 | YWHAZ | c.683G>T (p.Trp228Leu) c.452G>T (p.Trp151Leu) c.323G>T (p.Trp108Leu) c.707G>T (p.Trp236Leu) c.458G>T (p.Trp153Leu) c.338G>T (p.Trp113Leu) | |
| 8 | g.100920748C= | CA1806089035 | YWHAZ | c.683G= (p.Trp228=) c.452G= (p.Trp151=) c.323G= (p.Trp108=) c.707G= (p.Trp236=) c.458G= (p.Trp153=) c.338G= (p.Trp113=) | |
| 8 | g.100920748C>G | CA371640372 | YWHAZ | c.683G>C (p.Trp228Ser) c.452G>C (p.Trp151Ser) c.323G>C (p.Trp108Ser) c.707G>C (p.Trp236Ser) c.458G>C (p.Trp153Ser) c.338G>C (p.Trp113Ser) | |
| 8 | g.100920748C>T | CA371640373 | YWHAZ | c.683G>A (p.Trp228Ter) c.452G>A (p.Trp151Ter) c.323G>A (p.Trp108Ter) c.707G>A (p.Trp236Ter) c.458G>A (p.Trp153Ter) c.338G>A (p.Trp113Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.100920749A>C | CA371640374 | YWHAZ | c.682T>G (p.Trp228Gly) c.451T>G (p.Trp151Gly) c.322T>G (p.Trp108Gly) c.706T>G (p.Trp236Gly) c.457T>G (p.Trp153Gly) c.337T>G (p.Trp113Gly) | |
| 8 | g.100920749A>G | CA371640375 | YWHAZ | c.682T>C (p.Trp228Arg) c.451T>C (p.Trp151Arg) c.322T>C (p.Trp108Arg) c.706T>C (p.Trp236Arg) c.457T>C (p.Trp153Arg) c.337T>C (p.Trp113Arg) | |
| 8 | g.100920749A>T | CA371640376 | YWHAZ | c.682T>A (p.Trp228Arg) c.451T>A (p.Trp151Arg) c.322T>A (p.Trp108Arg) c.706T>A (p.Trp236Arg) c.457T>A (p.Trp153Arg) c.337T>A (p.Trp113Arg) | |
| 8 | g.100920750C>A | CA371640377 | YWHAZ | c.681G>T (p.Leu227Phe) c.450G>T (p.Leu150Phe) c.321G>T (p.Leu107Phe) c.705G>T (p.Leu235Phe) c.456G>T (p.Leu152Phe) c.336G>T (p.Leu112Phe) | |
| 8 | g.100920750C>G | CA371640378 | YWHAZ | c.681G>C (p.Leu227Phe) c.450G>C (p.Leu150Phe) c.321G>C (p.Leu107Phe) c.705G>C (p.Leu235Phe) c.456G>C (p.Leu152Phe) c.336G>C (p.Leu112Phe) | |
| 8 | g.100920750C>T | CA462194501 | YWHAZ | c.681G>A (p.Leu227=) c.450G>A (p.Leu150=) c.321G>A (p.Leu107=) c.705G>A (p.Leu235=) c.456G>A (p.Leu152=) c.336G>A (p.Leu112=) | |
| 8 | g.100920751A>C | CA371640379 | YWHAZ | c.680T>G (p.Leu227Trp) c.449T>G (p.Leu150Trp) c.320T>G (p.Leu107Trp) c.704T>G (p.Leu235Trp) c.455T>G (p.Leu152Trp) c.335T>G (p.Leu112Trp) | |
| 8 | g.100920751A>G | CA371640380 | YWHAZ | c.680T>C (p.Leu227Ser) c.449T>C (p.Leu150Ser) c.320T>C (p.Leu107Ser) c.704T>C (p.Leu235Ser) c.455T>C (p.Leu152Ser) c.335T>C (p.Leu112Ser) | |
| 8 | g.100920751A>T | CA371640381 | YWHAZ | c.680T>A (p.Leu227Ter) c.449T>A (p.Leu150Ter) c.320T>A (p.Leu107Ter) c.704T>A (p.Leu235Ter) c.455T>A (p.Leu152Ter) c.335T>A (p.Leu112Ter) | |
| 8 | g.100920752A>C | CA371640382 | YWHAZ | c.679T>G (p.Leu227Val) c.448T>G (p.Leu150Val) c.319T>G (p.Leu107Val) c.703T>G (p.Leu235Val) c.454T>G (p.Leu152Val) c.334T>G (p.Leu112Val) | |
| 8 | g.100920752A>G | CA462194502 | YWHAZ | c.679T>C (p.Leu227=) c.448T>C (p.Leu150=) c.319T>C (p.Leu107=) c.703T>C (p.Leu235=) c.454T>C (p.Leu152=) c.334T>C (p.Leu112=) | |
| 8 | g.100920752A>T | CA371640383 | YWHAZ | c.679T>A (p.Leu227Met) c.448T>A (p.Leu150Met) c.319T>A (p.Leu107Met) c.703T>A (p.Leu235Met) c.454T>A (p.Leu152Met) c.334T>A (p.Leu112Met) | |
| 8 | g.100920752_100920753insTGT | CA1117189915 | YWHAZ | c.679-1_679insACA (n.679-1_679insACA) c.448-1_448insACA (n.448-1_448insACA) c.319-1_319insACA (n.319-1_319insACA) c.703-1_703insACA (n.703-1_703insACA) c.454-1_454insACA (n.454-1_454insACA) c.334-1_334insACA (n.334-1_334insACA) | gnomAD v3 gnomAD v4 |
| 8 | g.100920753del | CA2717900835 | YWHAZ | c.679-1del (n.679-1del) c.448-1del (n.448-1del) c.319-1del (n.319-1del) c.703-1del (n.703-1del) c.454-1del (n.454-1del) c.334-1del (n.334-1del) | dbSNP |
| 8 | g.100920753C>A | CA371640384 | YWHAZ | c.679-1G>T (n.679-1G>T) c.448-1G>T (n.448-1G>T) c.319-1G>T (n.319-1G>T) c.703-1G>T (n.703-1G>T) c.454-1G>T (n.454-1G>T) c.334-1G>T (n.334-1G>T) | |
| 8 | g.100920753C>G | CA371640385 | YWHAZ | c.679-1G>C (n.679-1G>C) c.448-1G>C (n.448-1G>C) c.319-1G>C (n.319-1G>C) c.703-1G>C (n.703-1G>C) c.454-1G>C (n.454-1G>C) c.334-1G>C (n.334-1G>C) | |
| 8 | g.100920753C>T | CA371640386 | YWHAZ | c.679-1G>A (n.679-1G>A) c.448-1G>A (n.448-1G>A) c.319-1G>A (n.319-1G>A) c.703-1G>A (n.703-1G>A) c.454-1G>A (n.454-1G>A) c.334-1G>A (n.334-1G>A) | |
| 8 | g.100920753_100920754insAAGT | CA2688116767 | YWHAZ | c.679-2_679-1insACTT (n.679-2_679-1insACTT) c.448-2_448-1insACTT (n.448-2_448-1insACTT) c.319-2_319-1insACTT (n.319-2_319-1insACTT) c.703-2_703-1insACTT (n.703-2_703-1insACTT) c.454-2_454-1insACTT (n.454-2_454-1insACTT) c.334-2_334-1insACTT (n.334-2_334-1insACTT) | gnomAD v4 |
| 8 | g.100920754T>A | CA371640387 | YWHAZ | c.679-2A>T (n.679-2A>T) c.448-2A>T (n.448-2A>T) c.319-2A>T (n.319-2A>T) c.703-2A>T (n.703-2A>T) c.454-2A>T (n.454-2A>T) c.334-2A>T (n.334-2A>T) | |
| 8 | g.100920754T>C | CA371640388 | YWHAZ | c.679-2A>G (n.679-2A>G) c.448-2A>G (n.448-2A>G) c.319-2A>G (n.319-2A>G) c.703-2A>G (n.703-2A>G) c.454-2A>G (n.454-2A>G) c.334-2A>G (n.334-2A>G) | |
| 8 | g.100920754T>G | CA371640389 | YWHAZ | c.679-2A>C (n.679-2A>C) c.448-2A>C (n.448-2A>C) c.319-2A>C (n.319-2A>C) c.703-2A>C (n.703-2A>C) c.454-2A>C (n.454-2A>C) c.334-2A>C (n.334-2A>C) | |
| 8 | g.100920755G>T | CA2688116768 | YWHAZ | c.679-3C>A (n.679-3C>A) c.448-3C>A (n.448-3C>A) c.319-3C>A (n.319-3C>A) c.703-3C>A (n.703-3C>A) c.454-3C>A (n.454-3C>A) c.334-3C>A (n.334-3C>A) | gnomAD v4 |
| 8 | g.100920756G>A | CA2579219757 | YWHAZ | c.679-4C>T (n.679-4C>T) c.448-4C>T (n.448-4C>T) c.319-4C>T (n.319-4C>T) c.703-4C>T (n.703-4C>T) c.454-4C>T (n.454-4C>T) c.334-4C>T (n.334-4C>T) | |
| 8 | g.100920756G>T | CA2688116769 | YWHAZ | c.679-4C>A (n.679-4C>A) c.448-4C>A (n.448-4C>A) c.319-4C>A (n.319-4C>A) c.703-4C>A (n.703-4C>A) c.454-4C>A (n.454-4C>A) c.334-4C>A (n.334-4C>A) | dbSNP gnomAD v4 |