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 |
|---|---|---|---|---|---|
| 3 | g.179203663T>A | CA437315940 | PIK3CA | c.933T>A (p.Ile311=) n.687T>A n.3740T>A | dbSNP |
| 3 | g.179203663T>C | CA437315942 | PIK3CA | c.933T>C (p.Ile311=) n.687T>C n.3740T>C | dbSNP |
| 3 | g.179203663T>G | CA355280522 | PIK3CA | c.933T>G (p.Ile311Met) n.687T>G n.3740T>G | |
| 3 | g.179203664T>A | CA355280526 | PIK3CA | c.934T>A (p.Ser312Thr) n.688T>A n.3741T>A | |
| 3 | g.179203664T>C | CA355280531 | PIK3CA | c.934T>C (p.Ser312Pro) n.688T>C n.3741T>C | |
| 3 | g.179203664T>G | CA355280534 | PIK3CA | c.934T>G (p.Ser312Ala) n.688T>G n.3741T>G | |
| 3 | g.179203665C>A | CA355280544 | PIK3CA | c.935C>A (p.Ser312Tyr) n.689C>A n.3742C>A | dbSNP |
| 3 | g.179203665C>G | CA355280542 | PIK3CA | c.935C>G (p.Ser312Cys) n.689C>G n.3742C>G | dbSNP |
| 3 | g.179203665C>T | CA355280539 | PIK3CA | c.935C>T (p.Ser312Phe) n.689C>T n.3742C>T | dbSNP |
| 3 | g.179203666C>A | CA437315944 | PIK3CA | c.936C>A (p.Ser312=) n.690C>A n.3743C>A | |
| 3 | g.179203666C>G | CA437315945 | PIK3CA | c.936C>G (p.Ser312=) n.690C>G n.3743C>G | |
| 3 | g.179203666C>T | CA437315946 | PIK3CA | c.936C>T (p.Ser312=) n.690C>T n.3743C>T | |
| 3 | g.179203667A= | CA1423665433 | PIK3CA | c.937A= (p.Thr313=) n.691A= n.3744A= | |
| 3 | g.179203667A>C | CA355280545 | PIK3CA | c.937A>C (p.Thr313Pro) n.691A>C n.3744A>C | dbSNP |
| 3 | g.179203667A>G | CA355280547 | PIK3CA | c.937A>G (p.Thr313Ala) n.691A>G n.3744A>G | gnomAD v4 |
| 3 | g.179203667A>T | CA355280546 | PIK3CA | c.937A>T (p.Thr313Ser) n.691A>T n.3744A>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.179203668C>A | CA355280551 | PIK3CA | c.938C>A (p.Thr313Lys) n.692C>A n.3745C>A | |
| 3 | g.179203668C>G | CA355280554 | PIK3CA | c.938C>G (p.Thr313Arg) n.692C>G n.3745C>G | dbSNP |
| 3 | g.179203668C>T | CA355280556 | PIK3CA | c.938C>T (p.Thr313Ile) n.692C>T n.3745C>T | dbSNP |
| 3 | g.179203669A= | CA1423665437 | PIK3CA | c.939A= (p.Thr313=) n.693A= n.3746A= | |
| 3 | g.179203669A>C | CA437315950 | PIK3CA | c.939A>C (p.Thr313=) n.693A>C n.3746A>C | |
| 3 | g.179203669A>G | CA437315949 | PIK3CA | c.939A>G (p.Thr313=) n.693A>G n.3746A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.179203669A>T | CA437315951 | PIK3CA | c.939A>T (p.Thr313=) n.693A>T n.3746A>T | dbSNP |
| 3 | g.179203670G>A | CA355280559 | PIK3CA | c.940G>A (p.Ala314Thr) n.694G>A n.3747G>A | dbSNP gnomAD v4 |
| 3 | g.179203670G>C | CA355280560 | PIK3CA | c.940G>C (p.Ala314Pro) n.694G>C n.3747G>C | dbSNP |
| 3 | g.179203670G= | CA1423665442 | PIK3CA | c.940G= (p.Ala314=) n.694G= n.3747G= | |
| 3 | g.179203670G>T | CA355280562 | PIK3CA | c.940G>T (p.Ala314Ser) n.694G>T n.3747G>T | dbSNP |
| 3 | g.179203671C>A | CA355280563 | PIK3CA | c.941C>A (p.Ala314Asp) n.695C>A n.3748C>A | |
| 3 | g.179203671C>G | CA355280564 | PIK3CA | c.941C>G (p.Ala314Gly) n.695C>G n.3748C>G | dbSNP |
| 3 | g.179203671C>T | CA355280567 | PIK3CA | c.941C>T (p.Ala314Val) n.695C>T n.3748C>T | |
| 3 | g.179203672T>A | CA437315952 | PIK3CA | c.942T>A (p.Ala314=) n.696T>A n.3749T>A | dbSNP |
| 3 | g.179203672T>C | CA437315953 | PIK3CA | c.942T>C (p.Ala314=) n.696T>C n.3749T>C | dbSNP |
| 3 | g.179203672T>G | CA437315954 | PIK3CA | c.942T>G (p.Ala314=) n.696T>G n.3749T>G | |
| 3 | g.179203673A>C | CA355280574 | PIK3CA | c.943A>C (p.Thr315Pro) n.697A>C n.3750A>C | dbSNP |
| 3 | g.179203673A>G | CA355280580 | PIK3CA | c.943A>G (p.Thr315Ala) n.697A>G n.3750A>G | |
| 3 | g.179203673A>T | CA355280584 | PIK3CA | c.943A>T (p.Thr315Ser) n.697A>T n.3750A>T | dbSNP |
| 3 | g.179203674C>A | CA355280589 | PIK3CA | c.944C>A (p.Thr315Lys) n.698C>A n.3751C>A | |
| 3 | g.179203674C>G | CA355280586 | PIK3CA | c.944C>G (p.Thr315Arg) n.698C>G n.3751C>G | dbSNP |
| 3 | g.179203674C>T | CA355280588 | PIK3CA | c.944C>T (p.Thr315Ile) n.698C>T n.3751C>T | dbSNP |
| 3 | g.179203675A>C | CA437315957 | PIK3CA | c.945A>C (p.Thr315=) n.699A>C n.3752A>C | |
| 3 | g.179203675A>G | CA437315958 | PIK3CA | c.945A>G (p.Thr315=) n.699A>G n.3752A>G | ClinVar gnomAD v4 |
| 3 | g.179203675A>T | CA437315959 | PIK3CA | c.945A>T (p.Thr315=) n.699A>T n.3752A>T | |
| 3 | g.179203676C>A | CA355280591 | PIK3CA | c.946C>A (p.Pro316Thr) n.700C>A n.3753C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.179203676C= | CA1423665451 | PIK3CA | c.946C= (p.Pro316=) n.700C= n.3753C= | |
| 3 | g.179203676C>G | CA355280595 | PIK3CA | c.946C>G (p.Pro316Ala) n.700C>G n.3753C>G | dbSNP COSMIC COSMIC |
| 3 | g.179203676C>T | CA355280602 | PIK3CA | c.946C>T (p.Pro316Ser) n.700C>T n.3753C>T | dbSNP |
| 3 | g.179203677C>A | CA355280611 | PIK3CA | c.947C>A (p.Pro316Gln) n.701C>A n.3754C>A | |
| 3 | g.179203677C>G | CA355280614 | PIK3CA | c.947C>G (p.Pro316Arg) n.701C>G n.3754C>G | |
| 3 | g.179203677C>T | CA355280617 | PIK3CA | c.947C>T (p.Pro316Leu) n.701C>T n.3754C>T | gnomAD v4 |
| 3 | g.179203678A>C | CA437315961 | PIK3CA | c.948A>C (p.Pro316=) n.702A>C n.3755A>C |