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 |
|---|---|---|---|---|---|
| 7 | g.116763216T>A | CA368983546 | MET | c.2531T>A (p.Phe844Tyr) c.*136T>A (n.*136T>A) c.2585T>A (p.Phe862Tyr) c.371T>A (p.Phe124Tyr) c.1241T>A (p.Phe414Tyr) c.2588T>A (p.Phe863Tyr) n.2662T>A | dbSNP |
| 7 | g.116763216T>C | CA368983549 | MET | c.2531T>C (p.Phe844Ser) c.*136T>C (n.*136T>C) c.2585T>C (p.Phe862Ser) c.371T>C (p.Phe124Ser) c.1241T>C (p.Phe414Ser) c.2588T>C (p.Phe863Ser) n.2662T>C | |
| 7 | g.116763216T>G | CA368983548 | MET | c.2531T>G (p.Phe844Cys) c.*136T>G (n.*136T>G) c.2585T>G (p.Phe862Cys) c.371T>G (p.Phe124Cys) c.1241T>G (p.Phe414Cys) c.2588T>G (p.Phe863Cys) n.2662T>G | |
| 7 | g.116763217T>A | CA368983551 | MET | c.2532T>A (p.Phe844Leu) c.*137T>A (n.*137T>A) c.2586T>A (p.Phe862Leu) c.372T>A (p.Phe124Leu) c.1242T>A (p.Phe414Leu) c.2589T>A (p.Phe863Leu) n.2663T>A | |
| 7 | g.116763217T>C | CA457441525 | MET | c.2532T>C (p.Phe844=) c.*137T>C (n.*137T>C) c.2586T>C (p.Phe862=) c.372T>C (p.Phe124=) c.1242T>C (p.Phe414=) c.2589T>C (p.Phe863=) n.2663T>C | ClinVar dbSNP |
| 7 | g.116763217T>G | CA368983553 | MET | c.2532T>G (p.Phe844Leu) c.*137T>G (n.*137T>G) c.2586T>G (p.Phe862Leu) c.372T>G (p.Phe124Leu) c.1242T>G (p.Phe414Leu) c.2589T>G (p.Phe863Leu) n.2663T>G | |
| 7 | g.116763217T= | CA1737029684 | MET | c.2532T= (p.Phe844=) c.*137T= (n.*137T=) c.2586T= (p.Phe862=) c.372T= (p.Phe124=) c.1242T= (p.Phe414=) c.2589T= (p.Phe863=) n.2663T= | |
| 7 | g.116763218G>A | CA368983554 | MET | c.2533G>A (p.Glu845Lys) c.*138G>A (n.*138G>A) c.2587G>A (p.Glu863Lys) c.373G>A (p.Glu125Lys) c.1243G>A (p.Glu415Lys) c.2590G>A (p.Glu864Lys) n.2664G>A | dbSNP gnomAD v4 |
| 7 | g.116763218G>C | CA368983556 | MET | c.2533G>C (p.Glu845Gln) c.*138G>C (n.*138G>C) c.2587G>C (p.Glu863Gln) c.373G>C (p.Glu125Gln) c.1243G>C (p.Glu415Gln) c.2590G>C (p.Glu864Gln) n.2664G>C | ClinVar dbSNP |
| 7 | g.116763218G= | CA1737029686 | MET | c.2533G= (p.Glu845=) c.*138G= (n.*138G=) c.2587G= (p.Glu863=) c.373G= (p.Glu125=) c.1243G= (p.Glu415=) c.2590G= (p.Glu864=) n.2664G= | |
| 7 | g.116763218G>T | CA368983557 | MET | c.2533G>T (p.Glu845Ter) c.*138G>T (n.*138G>T) c.2587G>T (p.Glu863Ter) c.373G>T (p.Glu125Ter) c.1243G>T (p.Glu415Ter) c.2590G>T (p.Glu864Ter) n.2664G>T | |
| 7 | g.116763219A= | CA1737029691 | MET | c.2534A= (p.Glu845=) c.*139A= (n.*139A=) c.2588A= (p.Glu863=) c.374A= (p.Glu125=) c.1244A= (p.Glu415=) c.2591A= (p.Glu864=) n.2665A= | |
| 7 | g.116763219A>C | CA368983562 | MET | c.2534A>C (p.Glu845Ala) c.*139A>C (n.*139A>C) c.2588A>C (p.Glu863Ala) c.374A>C (p.Glu125Ala) c.1244A>C (p.Glu415Ala) c.2591A>C (p.Glu864Ala) n.2665A>C | |
| 7 | g.116763219A>G | CA368983561 | MET | c.2534A>G (p.Glu845Gly) c.*139A>G (n.*139A>G) c.2588A>G (p.Glu863Gly) c.374A>G (p.Glu125Gly) c.1244A>G (p.Glu415Gly) c.2591A>G (p.Glu864Gly) n.2665A>G | ClinVar dbSNP |
| 7 | g.116763219A>T | CA368983559 | MET | c.2534A>T (p.Glu845Val) c.*139A>T (n.*139A>T) c.2588A>T (p.Glu863Val) c.374A>T (p.Glu125Val) c.1244A>T (p.Glu415Val) c.2591A>T (p.Glu864Val) n.2665A>T | dbSNP |
| 7 | g.116763222del | CA2684591481 | MET | c.2537del (p.Lys846SerfsTer3) c.*142del (n.*142del) c.2591del (p.Lys864SerfsTer3) c.377del (p.Lys126SerfsTer3) c.1247del (p.Lys416SerfsTer3) c.2594del (p.Lys865SerfsTer3) n.2668del | gnomAD v4 |
| 7 | g.116763220A= | CA1737029696 | MET | c.2535A= (p.Glu845=) c.*140A= (n.*140A=) c.2589A= (p.Glu863=) c.375A= (p.Glu125=) c.1245A= (p.Glu415=) c.2592A= (p.Glu864=) n.2666A= | |
| 7 | g.116763220A>C | CA368983564 | MET | c.2535A>C (p.Glu845Asp) c.*140A>C (n.*140A>C) c.2589A>C (p.Glu863Asp) c.375A>C (p.Glu125Asp) c.1245A>C (p.Glu415Asp) c.2592A>C (p.Glu864Asp) n.2666A>C | |
| 7 | g.116763220A>G | CA4448498 | MET | c.2535A>G (p.Glu845=) c.*140A>G (n.*140A>G) c.2589A>G (p.Glu863=) c.375A>G (p.Glu125=) c.1245A>G (p.Glu415=) c.2592A>G (p.Glu864=) n.2666A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116763220A>T | CA368983566 | MET | c.2535A>T (p.Glu845Asp) c.*140A>T (n.*140A>T) c.2589A>T (p.Glu863Asp) c.375A>T (p.Glu125Asp) c.1245A>T (p.Glu415Asp) c.2592A>T (p.Glu864Asp) n.2666A>T | dbSNP |
| 7 | g.116763221A>C | CA368983568 | MET | c.2536A>C (p.Lys846Gln) c.*141A>C (n.*141A>C) c.2590A>C (p.Lys864Gln) c.376A>C (p.Lys126Gln) c.1246A>C (p.Lys416Gln) c.2593A>C (p.Lys865Gln) n.2667A>C | |
| 7 | g.116763221A>G | CA368983569 | MET | c.2536A>G (p.Lys846Glu) c.*141A>G (n.*141A>G) c.2590A>G (p.Lys864Glu) c.376A>G (p.Lys126Glu) c.1246A>G (p.Lys416Glu) c.2593A>G (p.Lys865Glu) n.2667A>G | |
| 7 | g.116763221A>T | CA368983571 | MET | c.2536A>T (p.Lys846Ter) c.*141A>T (n.*141A>T) c.2590A>T (p.Lys864Ter) c.376A>T (p.Lys126Ter) c.1246A>T (p.Lys416Ter) c.2593A>T (p.Lys865Ter) n.2667A>T | dbSNP |
| 7 | g.116763222A>C | CA368983573 | MET | c.2537A>C (p.Lys846Thr) c.*142A>C (n.*142A>C) c.2591A>C (p.Lys864Thr) c.377A>C (p.Lys126Thr) c.1247A>C (p.Lys416Thr) c.2594A>C (p.Lys865Thr) n.2668A>C | |
| 7 | g.116763222A>G | CA368983575 | MET | c.2537A>G (p.Lys846Arg) c.*142A>G (n.*142A>G) c.2591A>G (p.Lys864Arg) c.377A>G (p.Lys126Arg) c.1247A>G (p.Lys416Arg) c.2594A>G (p.Lys865Arg) n.2668A>G | dbSNP |
| 7 | g.116763222A>T | CA368983574 | MET | c.2537A>T (p.Lys846Met) c.*142A>T (n.*142A>T) c.2591A>T (p.Lys864Met) c.377A>T (p.Lys126Met) c.1247A>T (p.Lys416Met) c.2594A>T (p.Lys865Met) n.2668A>T | dbSNP |
| 7 | g.116763223G>A | CA457441547 | MET | c.2538G>A (p.Lys846=) c.*143G>A (n.*143G>A) c.2592G>A (p.Lys864=) c.378G>A (p.Lys126=) c.1248G>A (p.Lys416=) c.2595G>A (p.Lys865=) n.2669G>A | |
| 7 | g.116763223G>C | CA368983576 | MET | c.2538G>C (p.Lys846Asn) c.*143G>C (n.*143G>C) c.2592G>C (p.Lys864Asn) c.378G>C (p.Lys126Asn) c.1248G>C (p.Lys416Asn) c.2595G>C (p.Lys865Asn) n.2669G>C | ClinVar dbSNP |
| 7 | g.116763223G= | CA1737029701 | MET | c.2538G= (p.Lys846=) c.*143G= (n.*143G=) c.2592G= (p.Lys864=) c.378G= (p.Lys126=) c.1248G= (p.Lys416=) c.2595G= (p.Lys865=) n.2669G= | |
| 7 | g.116763223G>T | CA368983577 | MET | c.2538G>T (p.Lys846Asn) c.*143G>T (n.*143G>T) c.2592G>T (p.Lys864Asn) c.378G>T (p.Lys126Asn) c.1248G>T (p.Lys416Asn) c.2595G>T (p.Lys865Asn) n.2669G>T | |
| 7 | g.116763224C>A | CA368983580 | MET | c.2539C>A (p.Pro847Thr) c.*144C>A (n.*144C>A) c.2593C>A (p.Pro865Thr) c.379C>A (p.Pro127Thr) c.1249C>A (p.Pro417Thr) c.2596C>A (p.Pro866Thr) n.2670C>A | dbSNP |
| 7 | g.116763224C= | CA1737029707 | MET | c.2539C= (p.Pro847=) c.*144C= (n.*144C=) c.2593C= (p.Pro865=) c.379C= (p.Pro127=) c.1249C= (p.Pro417=) c.2596C= (p.Pro866=) n.2670C= | |
| 7 | g.116763224C>G | CA368983581 | MET | c.2539C>G (p.Pro847Ala) c.*144C>G (n.*144C>G) c.2593C>G (p.Pro865Ala) c.379C>G (p.Pro127Ala) c.1249C>G (p.Pro417Ala) c.2596C>G (p.Pro866Ala) n.2670C>G | dbSNP |
| 7 | g.116763224C>T | CA368983583 | MET | c.2539C>T (p.Pro847Ser) c.*144C>T (n.*144C>T) c.2593C>T (p.Pro865Ser) c.379C>T (p.Pro127Ser) c.1249C>T (p.Pro417Ser) c.2596C>T (p.Pro866Ser) n.2670C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116763225C>A | CA368983584 | MET | c.2540C>A (p.Pro847Gln) c.*145C>A (n.*145C>A) c.2594C>A (p.Pro865Gln) c.380C>A (p.Pro127Gln) c.1250C>A (p.Pro417Gln) c.2597C>A (p.Pro866Gln) n.2671C>A | dbSNP |
| 7 | g.116763225C>G | CA368983586 | MET | c.2540C>G (p.Pro847Arg) c.*145C>G (n.*145C>G) c.2594C>G (p.Pro865Arg) c.380C>G (p.Pro127Arg) c.1250C>G (p.Pro417Arg) c.2597C>G (p.Pro866Arg) n.2671C>G | ClinVar dbSNP |
| 7 | g.116763225C>T | CA368983587 | MET | c.2540C>T (p.Pro847Leu) c.*145C>T (n.*145C>T) c.2594C>T (p.Pro865Leu) c.380C>T (p.Pro127Leu) c.1250C>T (p.Pro417Leu) c.2597C>T (p.Pro866Leu) n.2671C>T | ClinVar dbSNP |
| 7 | g.116763226A>C | CA457441566 | MET | c.2541A>C (p.Pro847=) c.*146A>C (n.*146A>C) c.2595A>C (p.Pro865=) c.381A>C (p.Pro127=) c.1251A>C (p.Pro417=) c.2598A>C (p.Pro866=) n.2672A>C | |
| 7 | g.116763226A>G | CA457441564 | MET | c.2541A>G (p.Pro847=) c.*146A>G (n.*146A>G) c.2595A>G (p.Pro865=) c.381A>G (p.Pro127=) c.1251A>G (p.Pro417=) c.2598A>G (p.Pro866=) n.2672A>G | ClinVar dbSNP |
| 7 | g.116763226A>T | CA457441562 | MET | c.2541A>T (p.Pro847=) c.*146A>T (n.*146A>T) c.2595A>T (p.Pro865=) c.381A>T (p.Pro127=) c.1251A>T (p.Pro417=) c.2598A>T (p.Pro866=) n.2672A>T | dbSNP |
| 7 | g.116763227G>A | CA368983589 | MET | c.2542G>A (p.Val848Met) c.*147G>A (n.*147G>A) c.2596G>A (p.Val866Met) c.382G>A (p.Val128Met) c.1252G>A (p.Val418Met) c.2599G>A (p.Val867Met) n.2673G>A | dbSNP |
| 7 | g.116763227G>C | CA368983591 | MET | c.2542G>C (p.Val848Leu) c.*147G>C (n.*147G>C) c.2596G>C (p.Val866Leu) c.382G>C (p.Val128Leu) c.1252G>C (p.Val418Leu) c.2599G>C (p.Val867Leu) n.2673G>C | dbSNP |
| 7 | g.116763227G>T | CA368983592 | MET | c.2542G>T (p.Val848Leu) c.*147G>T (n.*147G>T) c.2596G>T (p.Val866Leu) c.382G>T (p.Val128Leu) c.1252G>T (p.Val418Leu) c.2599G>T (p.Val867Leu) n.2673G>T | |
| 7 | g.116763228T>A | CA368983593 | MET | c.2543T>A (p.Val848Glu) c.*148T>A (n.*148T>A) c.2597T>A (p.Val866Glu) c.383T>A (p.Val128Glu) c.1253T>A (p.Val418Glu) c.2600T>A (p.Val867Glu) n.2674T>A | dbSNP gnomAD v4 |
| 7 | g.116763228T>C | CA167284 | MET | c.2543T>C (p.Val848Ala) c.*148T>C (n.*148T>C) c.2597T>C (p.Val866Ala) c.383T>C (p.Val128Ala) c.1253T>C (p.Val418Ala) c.2600T>C (p.Val867Ala) n.2674T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116763228T>G | CA368983594 | MET | c.2543T>G (p.Val848Gly) c.*148T>G (n.*148T>G) c.2597T>G (p.Val866Gly) c.383T>G (p.Val128Gly) c.1253T>G (p.Val418Gly) c.2600T>G (p.Val867Gly) n.2674T>G | |
| 7 | g.116763228T= | CA1737029715 | MET | c.2543T= (p.Val848=) c.*148T= (n.*148T=) c.2597T= (p.Val866=) c.383T= (p.Val128=) c.1253T= (p.Val418=) c.2600T= (p.Val867=) n.2674T= | |
| 7 | g.116763229G>A | CA4448499 | MET | c.2544G>A (p.Val848=) c.*149G>A (n.*149G>A) c.2598G>A (p.Val866=) c.384G>A (p.Val128=) c.1254G>A (p.Val418=) c.2601G>A (p.Val867=) n.2675G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116763229G>C | CA457441570 | MET | c.2544G>C (p.Val848=) c.*149G>C (n.*149G>C) c.2598G>C (p.Val866=) c.384G>C (p.Val128=) c.1254G>C (p.Val418=) c.2601G>C (p.Val867=) n.2675G>C | dbSNP |
| 7 | g.116763229G= | CA1737029721 | MET | c.2544G= (p.Val848=) c.*149G= (n.*149G=) c.2598G= (p.Val866=) c.384G= (p.Val128=) c.1254G= (p.Val418=) c.2601G= (p.Val867=) n.2675G= |