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 |
|---|---|---|---|---|---|
| 20 | g.33417806G>A | CA408632524 | SNTA1 | c.614C>T (p.Thr205Ile) n.847C>T c.287C>T (p.Thr96Ile) | ClinVar |
| 20 | g.33417806G>C | CA408632526 | SNTA1 | c.614C>G (p.Thr205Arg) n.847C>G c.287C>G (p.Thr96Arg) | |
| 20 | g.33417806G>T | CA408632528 | SNTA1 | c.614C>A (p.Thr205Lys) n.847C>A c.287C>A (p.Thr96Lys) | COSMIC |
| 20 | g.33417807T>A | CA408632530 | SNTA1 | c.613A>T (p.Thr205Ser) n.846A>T c.286A>T (p.Thr96Ser) | |
| 20 | g.33417807T>C | CA408632531 | SNTA1 | c.613A>G (p.Thr205Ala) n.846A>G c.286A>G (p.Thr96Ala) | |
| 20 | g.33417807T>G | CA408632533 | SNTA1 | c.613A>C (p.Thr205Pro) n.846A>C c.286A>C (p.Thr96Pro) | |
| 20 | g.33417808G>A | CA510251264 | SNTA1 | c.612C>T (p.Pro204=) n.845C>T c.285C>T (p.Pro95=) | gnomAD v4 |
| 20 | g.33417808G>C | CA510251265 | SNTA1 | c.612C>G (p.Pro204=) n.845C>G c.285C>G (p.Pro95=) | |
| 20 | g.33417808G>T | CA510251266 | SNTA1 | c.612C>A (p.Pro204=) n.845C>A c.285C>A (p.Pro95=) | gnomAD v4 |
| 20 | g.33417809G>A | CA408632534 | SNTA1 | c.611C>T (p.Pro204Leu) n.844C>T c.284C>T (p.Pro95Leu) | |
| 20 | g.33417809G>C | CA408632536 | SNTA1 | c.611C>G (p.Pro204Arg) n.844C>G c.284C>G (p.Pro95Arg) | |
| 20 | g.33417809G>T | CA408632537 | SNTA1 | c.611C>A (p.Pro204His) n.844C>A c.284C>A (p.Pro95His) | |
| 20 | g.33417810G>A | CA408632539 | SNTA1 | c.610C>T (p.Pro204Ser) n.843C>T c.283C>T (p.Pro95Ser) | |
| 20 | g.33417810G>C | CA408632540 | SNTA1 | c.610C>G (p.Pro204Ala) n.843C>G c.283C>G (p.Pro95Ala) | COSMIC |
| 20 | g.33417810G>T | CA408632541 | SNTA1 | c.610C>A (p.Pro204Thr) n.843C>A c.283C>A (p.Pro95Thr) | |
| 20 | g.33417811G>A | CA510251270 | SNTA1 | c.609C>T (p.Gly203=) n.842C>T c.282C>T (p.Gly94=) | |
| 20 | g.33417811G>C | CA510251271 | SNTA1 | c.609C>G (p.Gly203=) n.842C>G c.282C>G (p.Gly94=) | |
| 20 | g.33417811G>T | CA510251272 | SNTA1 | c.609C>A (p.Gly203=) n.842C>A c.282C>A (p.Gly94=) | |
| 20 | g.33417812C>A | CA408632547 | SNTA1 | c.608G>T (p.Gly203Val) n.841G>T c.281G>T (p.Gly94Val) | |
| 20 | g.33417812C>G | CA408632543 | SNTA1 | c.608G>C (p.Gly203Ala) n.841G>C c.281G>C (p.Gly94Ala) | |
| 20 | g.33417812C>T | CA408632545 | SNTA1 | c.608G>A (p.Gly203Asp) n.841G>A c.281G>A (p.Gly94Asp) | |
| 20 | g.33417813C>A | CA408632548 | SNTA1 | c.607G>T (p.Gly203Cys) n.840G>T c.280G>T (p.Gly94Cys) | |
| 20 | g.33417813C>G | CA408632550 | SNTA1 | c.607G>C (p.Gly203Arg) n.840G>C c.280G>C (p.Gly94Arg) | |
| 20 | g.33417813C>T | CA408632552 | SNTA1 | c.607G>A (p.Gly203Ser) n.840G>A c.280G>A (p.Gly94Ser) | gnomAD v4 |
| 20 | g.33417813_33417814delinsCA | CA2360743990 | SNTA1 | c.606_607delinsTG (p.Pro202=) n.839_840delinsTG c.279_280delinsTG (p.Pro93=) | |
| 20 | g.33417814del | CA743716241 | SNTA1 | c.606del (p.Gly203AlafsTer15) n.839del c.279del (p.Gly94AlafsTer15) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.33417814A= | CA2360743991 | SNTA1 | c.606T= (p.Pro202=) n.839T= c.279T= (p.Pro93=) | |
| 20 | g.33417814A>C | CA510251273 | SNTA1 | c.606T>G (p.Pro202=) n.839T>G c.279T>G (p.Pro93=) | |
| 20 | g.33417814A>G | CA510251275 | SNTA1 | c.606T>C (p.Pro202=) n.839T>C c.279T>C (p.Pro93=) | dbSNP |
| 20 | g.33417814A>T | CA510251277 | SNTA1 | c.606T>A (p.Pro202=) n.839T>A c.279T>A (p.Pro93=) | |
| 20 | g.33417815G>A | CA408632553 | SNTA1 | c.605C>T (p.Pro202Leu) n.838C>T c.278C>T (p.Pro93Leu) | gnomAD v4 |
| 20 | g.33417815G>C | CA408632555 | SNTA1 | c.605C>G (p.Pro202Arg) n.838C>G c.278C>G (p.Pro93Arg) | |
| 20 | g.33417815G>T | CA408632557 | SNTA1 | c.605C>A (p.Pro202His) n.838C>A c.278C>A (p.Pro93His) | |
| 20 | g.33417816G>A | CA408632559 | SNTA1 | c.604C>T (p.Pro202Ser) n.837C>T c.277C>T (p.Pro93Ser) | |
| 20 | g.33417816G>C | CA408632560 | SNTA1 | c.604C>G (p.Pro202Ala) n.837C>G c.277C>G (p.Pro93Ala) | |
| 20 | g.33417816G>T | CA408632562 | SNTA1 | c.604C>A (p.Pro202Thr) n.837C>A c.277C>A (p.Pro93Thr) | |
| 20 | g.33417817G>A | CA510251278 | SNTA1 | c.603C>T (p.Ser201=) n.836C>T c.276C>T (p.Ser92=) | |
| 20 | g.33417817G>C | CA510251279 | SNTA1 | c.603C>G (p.Ser201=) n.836C>G c.276C>G (p.Ser92=) | |
| 20 | g.33417817G>T | CA510251280 | SNTA1 | c.603C>A (p.Ser201=) n.836C>A c.276C>A (p.Ser92=) | |
| 20 | g.33417818G>A | CA408632563 | SNTA1 | c.602C>T (p.Ser201Phe) n.835C>T c.275C>T (p.Ser92Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33417818G>C | CA408632565 | SNTA1 | c.602C>G (p.Ser201Cys) n.835C>G c.275C>G (p.Ser92Cys) | |
| 20 | g.33417818G= | CA2360743992 | SNTA1 | c.602C= (p.Ser201=) n.835C= c.275C= (p.Ser92=) | |
| 20 | g.33417818G>T | CA408632566 | SNTA1 | c.602C>A (p.Ser201Tyr) n.835C>A c.275C>A (p.Ser92Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.33417819A= | CA2360743993 | SNTA1 | c.601T= (p.Ser201=) n.834T= c.274T= (p.Ser92=) | |
| 20 | g.33417819A>C | CA408632570 | SNTA1 | c.601T>G (p.Ser201Ala) n.834T>G c.274T>G (p.Ser92Ala) | |
| 20 | g.33417819A>G | CA408632568 | SNTA1 | c.601T>C (p.Ser201Pro) n.834T>C c.274T>C (p.Ser92Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33417819A>T | CA408632567 | SNTA1 | c.601T>A (p.Ser201Thr) n.834T>A c.274T>A (p.Ser92Thr) | |
| 20 | g.33417820G>A | CA510251284 | SNTA1 | c.600C>T (p.Ser200=) n.833C>T c.273C>T (p.Ser91=) | dbSNP gnomAD v4 |
| 20 | g.33417820G>C | CA510251285 | SNTA1 | c.600C>G (p.Ser200=) n.833C>G c.273C>G (p.Ser91=) | |
| 20 | g.33417820G= | CA2360743994 | SNTA1 | c.600C= (p.Ser200=) n.833C= c.273C= (p.Ser91=) |