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 |
|---|---|---|---|---|---|
| 9 | g.130489436C>A | CA467385719 | ASS1 | c.942C>A (p.Gly314=) n.213C>A c.1056C>A (p.Gly352=) c.1038C>A (p.Gly346=) | |
| 9 | g.130489436C= | CA1881276661 | ASS1 | c.942C= (p.Gly314=) n.213C= c.1056C= (p.Gly352=) c.1038C= (p.Gly346=) | |
| 9 | g.130489436C>G | CA467385720 | ASS1 | c.942C>G (p.Gly314=) n.213C>G c.1056C>G (p.Gly352=) c.1038C>G (p.Gly346=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130489436C>T | CA467385721 | ASS1 | c.942C>T (p.Gly314=) n.213C>T c.1056C>T (p.Gly352=) c.1038C>T (p.Gly346=) | |
| 9 | g.130489437T>A | CA375230743 | ASS1 | c.943T>A (p.Leu315Met) n.214T>A c.1057T>A (p.Leu353Met) c.1039T>A (p.Leu347Met) | dbSNP |
| 9 | g.130489437T>C | CA5283578 | ASS1 | c.943T>C (p.Leu315=) n.214T>C c.1057T>C (p.Leu353=) c.1039T>C (p.Leu347=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130489437T>G | CA375230745 | ASS1 | c.943T>G (p.Leu315Val) n.214T>G c.1057T>G (p.Leu353Val) c.1039T>G (p.Leu347Val) | |
| 9 | g.130489437T= | CA1881276662 | ASS1 | c.943T= (p.Leu315=) n.214T= c.1057T= (p.Leu353=) c.1039T= (p.Leu347=) | |
| 9 | g.130489438T>A | CA375230750 | ASS1 | c.944T>A (p.Leu315Ter) n.215T>A c.1058T>A (p.Leu353Ter) c.1040T>A (p.Leu347Ter) | ClinVar dbSNP |
| 9 | g.130489438T>C | CA375230752 | ASS1 | c.944T>C (p.Leu315Ser) n.215T>C c.1058T>C (p.Leu353Ser) c.1040T>C (p.Leu347Ser) | |
| 9 | g.130489438T>G | CA375230748 | ASS1 | c.944T>G (p.Leu315Trp) n.215T>G c.1058T>G (p.Leu353Trp) c.1040T>G (p.Leu347Trp) | |
| 9 | g.130489439G>A | CA467385723 | ASS1 | c.945G>A (p.Leu315=) n.216G>A c.1059G>A (p.Leu353=) c.1041G>A (p.Leu347=) | |
| 9 | g.130489439G>C | CA375230754 | ASS1 | c.945G>C (p.Leu315Phe) n.216G>C c.1059G>C (p.Leu353Phe) c.1041G>C (p.Leu347Phe) | COSMIC |
| 9 | g.130489439G>T | CA375230756 | ASS1 | c.945G>T (p.Leu315Phe) n.216G>T c.1059G>T (p.Leu353Phe) c.1041G>T (p.Leu347Phe) | |
| 9 | g.130489440A>C | CA375230759 | ASS1 | c.946A>C (p.Lys316Gln) n.217A>C c.1060A>C (p.Lys354Gln) c.1042A>C (p.Lys348Gln) | |
| 9 | g.130489440A>G | CA375230761 | ASS1 | c.946A>G (p.Lys316Glu) n.217A>G c.1060A>G (p.Lys354Glu) c.1042A>G (p.Lys348Glu) | |
| 9 | g.130489440A>T | CA375230762 | ASS1 | c.946A>T (p.Lys316Ter) n.217A>T c.1060A>T (p.Lys354Ter) c.1042A>T (p.Lys348Ter) | |
| 9 | g.130489441A>C | CA375230769 | ASS1 | c.947A>C (p.Lys316Thr) n.218A>C c.1061A>C (p.Lys354Thr) c.1043A>C (p.Lys348Thr) | |
| 9 | g.130489441A>G | CA375230767 | ASS1 | c.947A>G (p.Lys316Arg) n.218A>G c.1061A>G (p.Lys354Arg) c.1043A>G (p.Lys348Arg) | |
| 9 | g.130489441A>T | CA375230765 | ASS1 | c.947A>T (p.Lys316Ile) n.218A>T c.1061A>T (p.Lys354Ile) c.1043A>T (p.Lys348Ile) | |
| 9 | g.130489442A>C | CA375230772 | ASS1 | c.948A>C (p.Lys316Asn) n.219A>C c.1062A>C (p.Lys354Asn) c.1044A>C (p.Lys348Asn) | |
| 9 | g.130489442A>G | CA467385726 | ASS1 | c.948A>G (p.Lys316=) n.219A>G c.1062A>G (p.Lys354=) c.1044A>G (p.Lys348=) | |
| 9 | g.130489442A>T | CA375230774 | ASS1 | c.948A>T (p.Lys316Asn) n.219A>T c.1062A>T (p.Lys354Asn) c.1044A>T (p.Lys348Asn) | |
| 9 | g.130489442_130489443del | CA913142384 | ASS1 | c.948_949del (p.Lys316AsnfsTer3) n.219_220del c.1062_1063del (p.Lys354AsnfsTer3) c.1044_1045del (p.Lys348AsnfsTer3) | |
| 9 | g.130489442_130489443delinsAT | CA1881276663 | ASS1 | c.948_949delinsAT (p.Lys316=) n.219_220delinsAT c.1062_1063delinsAT (p.Lys354=) c.1044_1045delinsAT (p.Lys348=) | |
| 9 | g.130489443T>A | CA375230776 | ASS1 | c.949T>A (p.Phe317Ile) n.220T>A c.1063T>A (p.Phe355Ile) c.1045T>A (p.Phe349Ile) | |
| 9 | g.130489443T>C | CA375230778 | ASS1 | c.949T>C (p.Phe317Leu) n.220T>C c.1063T>C (p.Phe355Leu) c.1045T>C (p.Phe349Leu) | gnomAD v4 |
| 9 | g.130489443T>G | CA375230780 | ASS1 | c.949T>G (p.Phe317Val) n.220T>G c.1063T>G (p.Phe355Val) c.1045T>G (p.Phe349Val) | |
| 9 | g.130489445del | CA5283579 | ASS1 | c.951del (p.Phe317LeufsTer?) n.222del c.1065del (p.Phe355LeufsTer?) c.1047del (p.Phe349LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130489444T>A | CA375230784 | ASS1 | c.950T>A (p.Phe317Tyr) n.221T>A c.1064T>A (p.Phe355Tyr) c.1046T>A (p.Phe349Tyr) | |
| 9 | g.130489444T>C | CA375230788 | ASS1 | c.950T>C (p.Phe317Ser) n.221T>C c.1064T>C (p.Phe355Ser) c.1046T>C (p.Phe349Ser) | |
| 9 | g.130489444T>G | CA375230785 | ASS1 | c.950T>G (p.Phe317Cys) n.221T>G c.1064T>G (p.Phe355Cys) c.1046T>G (p.Phe349Cys) | |
| 9 | g.130489445T>A | CA375230790 | ASS1 | c.951T>A (p.Phe317Leu) n.222T>A c.1065T>A (p.Phe355Leu) c.1047T>A (p.Phe349Leu) | |
| 9 | g.130489445T>C | CA467385731 | ASS1 | c.951T>C (p.Phe317=) n.222T>C c.1065T>C (p.Phe355=) c.1047T>C (p.Phe349=) | |
| 9 | g.130489445T>G | CA375230792 | ASS1 | c.951T>G (p.Phe317Leu) n.222T>G c.1065T>G (p.Phe355Leu) c.1047T>G (p.Phe349Leu) | |
| 9 | g.130489446del | CA2692135024 | ASS1 | c.952del (p.Ala318LeufsTer?) n.223del c.1066del (p.Ala356LeufsTer?) c.1048del (p.Ala350LeufsTer?) | gnomAD v4 |
| 9 | g.130489446G>A | CA375230794 | ASS1 | c.952G>A (p.Ala318Thr) n.223G>A c.1066G>A (p.Ala356Thr) c.1048G>A (p.Ala350Thr) | |
| 9 | g.130489446G>C | CA375230796 | ASS1 | c.952G>C (p.Ala318Pro) n.223G>C c.1066G>C (p.Ala356Pro) c.1048G>C (p.Ala350Pro) | |
| 9 | g.130489446G>T | CA375230799 | ASS1 | c.952G>T (p.Ala318Ser) n.223G>T c.1066G>T (p.Ala356Ser) c.1048G>T (p.Ala350Ser) | |
| 9 | g.130489446_130489447delinsTT | CA2695211475 | ASS1 | c.952_953delinsTT (p.Ala318Phe) n.223_224delinsTT c.1066_1067delinsTT (p.Ala356Phe) c.1048_1049delinsTT (p.Ala350Phe) | |
| 9 | g.130489447C>A | CA375230801 | ASS1 | c.953C>A (p.Ala318Asp) n.224C>A c.1067C>A (p.Ala356Asp) c.1049C>A (p.Ala350Asp) | |
| 9 | g.130489447C>G | CA375230803 | ASS1 | c.953C>G (p.Ala318Gly) n.224C>G c.1067C>G (p.Ala356Gly) c.1049C>G (p.Ala350Gly) | |
| 9 | g.130489447C>T | CA375230805 | ASS1 | c.953C>T (p.Ala318Val) n.224C>T c.1067C>T (p.Ala356Val) c.1049C>T (p.Ala350Val) | dbSNP |
| 9 | g.130489448T>A | CA467385735 | ASS1 | c.954T>A (p.Ala318=) n.225T>A c.1068T>A (p.Ala356=) c.1050T>A (p.Ala350=) | gnomAD v4 |
| 9 | g.130489448T>C | CA467385737 | ASS1 | c.954T>C (p.Ala318=) n.225T>C c.1068T>C (p.Ala356=) c.1050T>C (p.Ala350=) | |
| 9 | g.130489448T>G | CA467385736 | ASS1 | c.954T>G (p.Ala318=) n.225T>G c.1068T>G (p.Ala356=) c.1050T>G (p.Ala350=) | |
| 9 | g.130489449G>A | CA375230807 | ASS1 | c.955G>A (p.Glu319Lys) n.226G>A c.1069G>A (p.Glu357Lys) c.1051G>A (p.Glu351Lys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.130489449G>C | CA375230809 | ASS1 | c.955G>C (p.Glu319Gln) n.226G>C c.1069G>C (p.Glu357Gln) c.1051G>C (p.Glu351Gln) | |
| 9 | g.130489449G= | CA1881276664 | ASS1 | c.955G= (p.Glu319=) n.226G= c.1069G= (p.Glu357=) c.1051G= (p.Glu351=) | |
| 9 | g.130489449G>T | CA375230811 | ASS1 | c.955G>T (p.Glu319Ter) n.226G>T c.1069G>T (p.Glu357Ter) c.1051G>T (p.Glu351Ter) | COSMIC |