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 |
|---|---|---|---|---|---|
| 1 | g.99884635T>A | CA341321745 | AGL | c.2613T>A (p.Ser871Arg) n.2824T>A c.2565T>A (p.Ser855Arg) c.2562T>A (p.Ser854Arg) c.873T>A (p.Ser291Arg) | |
| 1 | g.99884635T>C | CA419083649 | AGL | c.2613T>C (p.Ser871=) n.2824T>C c.2565T>C (p.Ser855=) c.2562T>C (p.Ser854=) c.873T>C (p.Ser291=) | |
| 1 | g.99884635T>G | CA341321744 | AGL | c.2613T>G (p.Ser871Arg) n.2824T>G c.2565T>G (p.Ser855Arg) c.2562T>G (p.Ser854Arg) c.873T>G (p.Ser291Arg) | |
| 1 | g.99884636C>A | CA341321746 | AGL | c.2614C>A (p.Pro872Thr) n.2825C>A c.2566C>A (p.Pro856Thr) c.2563C>A (p.Pro855Thr) c.874C>A (p.Pro292Thr) | gnomAD v4 |
| 1 | g.99884636C>G | CA341321748 | AGL | c.2614C>G (p.Pro872Ala) n.2825C>G c.2566C>G (p.Pro856Ala) c.2563C>G (p.Pro855Ala) c.874C>G (p.Pro292Ala) | |
| 1 | g.99884636C>T | CA341321750 | AGL | c.2614C>T (p.Pro872Ser) n.2825C>T c.2566C>T (p.Pro856Ser) c.2563C>T (p.Pro855Ser) c.874C>T (p.Pro292Ser) | ClinVar |
| 1 | g.99884637C>A | CA341321752 | AGL | c.2615C>A (p.Pro872His) n.2826C>A c.2567C>A (p.Pro856His) c.2564C>A (p.Pro855His) c.875C>A (p.Pro292His) | |
| 1 | g.99884637C= | CA1183930645 | AGL | c.2615C= (p.Pro872=) n.2826C= c.2567C= (p.Pro856=) c.2564C= (p.Pro855=) c.875C= (p.Pro292=) | |
| 1 | g.99884637C>G | CA341321754 | AGL | c.2615C>G (p.Pro872Arg) n.2826C>G c.2567C>G (p.Pro856Arg) c.2564C>G (p.Pro855Arg) c.875C>G (p.Pro292Arg) | |
| 1 | g.99884637C>T | CA966840 | AGL | c.2615C>T (p.Pro872Leu) n.2826C>T c.2567C>T (p.Pro856Leu) c.2564C>T (p.Pro855Leu) c.875C>T (p.Pro292Leu) | dbSNP ExAC gnomAD v4 |
| 1 | g.99884638T>A | CA419083661 | AGL | c.2616T>A (p.Pro872=) n.2827T>A c.2568T>A (p.Pro856=) c.2565T>A (p.Pro855=) c.876T>A (p.Pro292=) | |
| 1 | g.99884638T>C | CA419083664 | AGL | c.2616T>C (p.Pro872=) n.2827T>C c.2568T>C (p.Pro856=) c.2565T>C (p.Pro855=) c.876T>C (p.Pro292=) | |
| 1 | g.99884638T>G | CA419083666 | AGL | c.2616T>G (p.Pro872=) n.2827T>G c.2568T>G (p.Pro856=) c.2565T>G (p.Pro855=) c.876T>G (p.Pro292=) | |
| 1 | g.99884639C>A | CA341321762 | AGL | c.2617C>A (p.His873Asn) n.2828C>A c.2569C>A (p.His857Asn) c.2566C>A (p.His856Asn) c.877C>A (p.His293Asn) | gnomAD v4 |
| 1 | g.99884639C>G | CA341321758 | AGL | c.2617C>G (p.His873Asp) n.2828C>G c.2569C>G (p.His857Asp) c.2566C>G (p.His856Asp) c.877C>G (p.His293Asp) | |
| 1 | g.99884639C>T | CA341321760 | AGL | c.2617C>T (p.His873Tyr) n.2828C>T c.2569C>T (p.His857Tyr) c.2566C>T (p.His856Tyr) c.877C>T (p.His293Tyr) | gnomAD v4 |
| 1 | g.99884640A= | CA1183930646 | AGL | c.2618A= (p.His873=) n.2829A= c.2570A= (p.His857=) c.2567A= (p.His856=) c.878A= (p.His293=) | |
| 1 | g.99884640A>C | CA341321765 | AGL | c.2618A>C (p.His873Pro) n.2829A>C c.2570A>C (p.His857Pro) c.2567A>C (p.His856Pro) c.878A>C (p.His293Pro) | |
| 1 | g.99884640A>G | CA27519529 | AGL | c.2618A>G (p.His873Arg) n.2829A>G c.2570A>G (p.His857Arg) c.2567A>G (p.His856Arg) c.878A>G (p.His293Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99884640A>T | CA341321769 | AGL | c.2618A>T (p.His873Leu) n.2829A>T c.2570A>T (p.His857Leu) c.2567A>T (p.His856Leu) c.878A>T (p.His293Leu) | |
| 1 | g.99884641C>A | CA341321771 | AGL | c.2619C>A (p.His873Gln) n.2830C>A c.2571C>A (p.His857Gln) c.2568C>A (p.His856Gln) c.879C>A (p.His293Gln) | |
| 1 | g.99884641C>G | CA341321772 | AGL | c.2619C>G (p.His873Gln) n.2830C>G c.2571C>G (p.His857Gln) c.2568C>G (p.His856Gln) c.879C>G (p.His293Gln) | |
| 1 | g.99884641C>T | CA419083672 | AGL | c.2619C>T (p.His873=) n.2830C>T c.2571C>T (p.His857=) c.2568C>T (p.His856=) c.879C>T (p.His293=) | ClinVar gnomAD v4 |
| 1 | g.99884642T>A | CA341321773 | AGL | c.2620T>A (p.Phe874Ile) n.2831T>A c.2572T>A (p.Phe858Ile) c.2569T>A (p.Phe857Ile) c.880T>A (p.Phe294Ile) | |
| 1 | g.99884642T>C | CA341321779 | AGL | c.2620T>C (p.Phe874Leu) n.2831T>C c.2572T>C (p.Phe858Leu) c.2569T>C (p.Phe857Leu) c.880T>C (p.Phe294Leu) | gnomAD v4 |
| 1 | g.99884642T>G | CA341321776 | AGL | c.2620T>G (p.Phe874Val) n.2831T>G c.2572T>G (p.Phe858Val) c.2569T>G (p.Phe857Val) c.880T>G (p.Phe294Val) | |
| 1 | g.99884643T>A | CA341321783 | AGL | c.2621T>A (p.Phe874Tyr) n.2832T>A c.2573T>A (p.Phe858Tyr) c.2570T>A (p.Phe857Tyr) c.881T>A (p.Phe294Tyr) | |
| 1 | g.99884643T>C | CA341321786 | AGL | c.2621T>C (p.Phe874Ser) n.2832T>C c.2573T>C (p.Phe858Ser) c.2570T>C (p.Phe857Ser) c.881T>C (p.Phe294Ser) | |
| 1 | g.99884643T>G | CA341321788 | AGL | c.2621T>G (p.Phe874Cys) n.2832T>G c.2573T>G (p.Phe858Cys) c.2570T>G (p.Phe857Cys) c.881T>G (p.Phe294Cys) | |
| 1 | g.99884644T>A | CA341321790 | AGL | c.2622T>A (p.Phe874Leu) n.2833T>A c.2574T>A (p.Phe858Leu) c.2571T>A (p.Phe857Leu) c.882T>A (p.Phe294Leu) | gnomAD v4 |
| 1 | g.99884644T>C | CA966841 | AGL | c.2622T>C (p.Phe874=) n.2833T>C c.2574T>C (p.Phe858=) c.2571T>C (p.Phe857=) c.882T>C (p.Phe294=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99884644T>G | CA341321794 | AGL | c.2622T>G (p.Phe874Leu) n.2833T>G c.2574T>G (p.Phe858Leu) c.2571T>G (p.Phe857Leu) c.882T>G (p.Phe294Leu) | |
| 1 | g.99884644T= | CA1183930647 | AGL | c.2622T= (p.Phe874=) n.2833T= c.2574T= (p.Phe858=) c.2571T= (p.Phe857=) c.882T= (p.Phe294=) | |
| 1 | g.99884645A= | CA1183930648 | AGL | c.2623A= (p.Lys875=) n.2834A= c.2575A= (p.Lys859=) c.2572A= (p.Lys858=) c.883A= (p.Lys295=) | |
| 1 | g.99884645A>C | CA966842 | AGL | c.2623A>C (p.Lys875Gln) n.2834A>C c.2575A>C (p.Lys859Gln) c.2572A>C (p.Lys858Gln) c.883A>C (p.Lys295Gln) | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.99884645A>G | CA341321800 | AGL | c.2623A>G (p.Lys875Glu) n.2834A>G c.2575A>G (p.Lys859Glu) c.2572A>G (p.Lys858Glu) c.883A>G (p.Lys295Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99884645A>T | CA341321802 | AGL | c.2623A>T (p.Lys875Ter) n.2834A>T c.2575A>T (p.Lys859Ter) c.2572A>T (p.Lys858Ter) c.883A>T (p.Lys295Ter) | ClinVar |
| 1 | g.99884646A>C | CA341321805 | AGL | c.2624A>C (p.Lys875Thr) n.2835A>C c.2576A>C (p.Lys859Thr) c.2573A>C (p.Lys858Thr) c.884A>C (p.Lys295Thr) | COSMIC COSMIC |
| 1 | g.99884646A>G | CA341321807 | AGL | c.2624A>G (p.Lys875Arg) n.2835A>G c.2576A>G (p.Lys859Arg) c.2573A>G (p.Lys858Arg) c.884A>G (p.Lys295Arg) | |
| 1 | g.99884646A>T | CA341321809 | AGL | c.2624A>T (p.Lys875Ile) n.2835A>T c.2576A>T (p.Lys859Ile) c.2573A>T (p.Lys858Ile) c.884A>T (p.Lys295Ile) | |
| 1 | g.99884647A>C | CA341321811 | AGL | c.2625A>C (p.Lys875Asn) n.2836A>C c.2577A>C (p.Lys859Asn) c.2574A>C (p.Lys858Asn) c.885A>C (p.Lys295Asn) | |
| 1 | g.99884647A>G | CA419083703 | AGL | c.2625A>G (p.Lys875=) n.2836A>G c.2577A>G (p.Lys859=) c.2574A>G (p.Lys858=) c.885A>G (p.Lys295=) | |
| 1 | g.99884647A>T | CA341321823 | AGL | c.2625A>T (p.Lys875Asn) n.2836A>T c.2577A>T (p.Lys859Asn) c.2574A>T (p.Lys858Asn) c.885A>T (p.Lys295Asn) | |
| 1 | g.99884648T>A | CA341321827 | AGL | c.2626T>A (p.Ser876Thr) n.2837T>A c.2578T>A (p.Ser860Thr) c.2575T>A (p.Ser859Thr) c.886T>A (p.Ser296Thr) | |
| 1 | g.99884648T>C | CA341321839 | AGL | c.2626T>C (p.Ser876Pro) n.2837T>C c.2578T>C (p.Ser860Pro) c.2575T>C (p.Ser859Pro) c.886T>C (p.Ser296Pro) | |
| 1 | g.99884648T>G | CA341321838 | AGL | c.2626T>G (p.Ser876Ala) n.2837T>G c.2578T>G (p.Ser860Ala) c.2575T>G (p.Ser859Ala) c.886T>G (p.Ser296Ala) | |
| 1 | g.99884649C>A | CA341321840 | AGL | c.2627C>A (p.Ser876Tyr) n.2838C>A c.2579C>A (p.Ser860Tyr) c.2576C>A (p.Ser859Tyr) c.887C>A (p.Ser296Tyr) | |
| 1 | g.99884649C>G | CA341321841 | AGL | c.2627C>G (p.Ser876Cys) n.2838C>G c.2579C>G (p.Ser860Cys) c.2576C>G (p.Ser859Cys) c.887C>G (p.Ser296Cys) | gnomAD v4 |
| 1 | g.99884649C>T | CA341321842 | AGL | c.2627C>T (p.Ser876Phe) n.2838C>T c.2579C>T (p.Ser860Phe) c.2576C>T (p.Ser859Phe) c.887C>T (p.Ser296Phe) | |
| 1 | g.99884650T>A | CA419083705 | AGL | c.2628T>A (p.Ser876=) n.2839T>A c.2580T>A (p.Ser860=) c.2577T>A (p.Ser859=) c.888T>A (p.Ser296=) |