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.116777410A= | CA1737039889 | MET | c.*886A= (n.*886A=) c.3335A= (p.His1112=) c.3281A= (p.His1094=) c.1991A= (p.His664=) c.3338A= (p.His1113=) n.3412A= | |
| 7 | g.116777410A>C | CA164908384 | MET | c.*886A>C (n.*886A>C) c.3335A>C (p.His1112Pro) c.3281A>C (p.His1094Pro) c.1991A>C (p.His664Pro) c.3338A>C (p.His1113Pro) n.3412A>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.116777410A>G | CA221506 | MET | c.*886A>G (n.*886A>G) c.3335A>G (p.His1112Arg) c.3281A>G (p.His1094Arg) c.1991A>G (p.His664Arg) c.3338A>G (p.His1113Arg) n.3412A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.116777410A>T | CA368989599 | MET | c.*886A>T (n.*886A>T) c.3335A>T (p.His1112Leu) c.3281A>T (p.His1094Leu) c.1991A>T (p.His664Leu) c.3338A>T (p.His1113Leu) n.3412A>T | dbSNP COSMIC |
| 7 | g.116777411T>A | CA368989601 | MET | c.*887T>A (n.*887T>A) c.3336T>A (p.His1112Gln) c.3282T>A (p.His1094Gln) c.1992T>A (p.His664Gln) c.3339T>A (p.His1113Gln) n.3413T>A | |
| 7 | g.116777411T>C | CA457218581 | MET | c.*887T>C (n.*887T>C) c.3336T>C (p.His1112=) c.3282T>C (p.His1094=) c.1992T>C (p.His664=) c.3339T>C (p.His1113=) n.3413T>C | gnomAD v4 |
| 7 | g.116777411T>G | CA368989602 | MET | c.*887T>G (n.*887T>G) c.3336T>G (p.His1112Gln) c.3282T>G (p.His1094Gln) c.1992T>G (p.His664Gln) c.3339T>G (p.His1113Gln) n.3413T>G | ClinVar dbSNP |
| 7 | g.116777411T= | CA1737039890 | MET | c.*887T= (n.*887T=) c.3336T= (p.His1112=) c.3282T= (p.His1094=) c.1992T= (p.His664=) c.3339T= (p.His1113=) n.3413T= | |
| 7 | g.116777412G>A | CA368989603 | MET | c.*888G>A (n.*888G>A) c.3337G>A (p.Gly1113Arg) c.3283G>A (p.Gly1095Arg) c.1993G>A (p.Gly665Arg) c.3340G>A (p.Gly1114Arg) n.3414G>A | |
| 7 | g.116777412G>C | CA368989605 | MET | c.*888G>C (n.*888G>C) c.3337G>C (p.Gly1113Arg) c.3283G>C (p.Gly1095Arg) c.1993G>C (p.Gly665Arg) c.3340G>C (p.Gly1114Arg) n.3414G>C | dbSNP |
| 7 | g.116777412G>T | CA368989607 | MET | c.*888G>T (n.*888G>T) c.3337G>T (p.Gly1113Trp) c.3283G>T (p.Gly1095Trp) c.1993G>T (p.Gly665Trp) c.3340G>T (p.Gly1114Trp) n.3414G>T | |
| 7 | g.116777414del | CA2715551690 | MET | c.*890del (n.*890del) c.3339del (p.Thr1114LeufsTer14) c.3285del (p.Thr1096LeufsTer14) c.1995del (p.Thr666LeufsTer14) c.3342del (p.Thr1115LeufsTer14) n.3416del | dbSNP |
| 7 | g.116777413G>A | CA368989609 | MET | c.*889G>A (n.*889G>A) c.3338G>A (p.Gly1113Glu) c.3284G>A (p.Gly1095Glu) c.1994G>A (p.Gly665Glu) c.3341G>A (p.Gly1114Glu) n.3415G>A | ClinVar dbSNP |
| 7 | g.116777413G>C | CA368989611 | MET | c.*889G>C (n.*889G>C) c.3338G>C (p.Gly1113Ala) c.3284G>C (p.Gly1095Ala) c.1994G>C (p.Gly665Ala) c.3341G>C (p.Gly1114Ala) n.3415G>C | ClinVar dbSNP |
| 7 | g.116777413G= | CA1737039891 | MET | c.*889G= (n.*889G=) c.3338G= (p.Gly1113=) c.3284G= (p.Gly1095=) c.1994G= (p.Gly665=) c.3341G= (p.Gly1114=) n.3415G= | |
| 7 | g.116777413G>T | CA368989612 | MET | c.*889G>T (n.*889G>T) c.3338G>T (p.Gly1113Val) c.3284G>T (p.Gly1095Val) c.1994G>T (p.Gly665Val) c.3341G>T (p.Gly1114Val) n.3415G>T | dbSNP |
| 7 | g.116777414G>A | CA457218582 | MET | c.*890G>A (n.*890G>A) c.3339G>A (p.Gly1113=) c.3285G>A (p.Gly1095=) c.1995G>A (p.Gly665=) c.3342G>A (p.Gly1114=) n.3416G>A | gnomAD v4 |
| 7 | g.116777414G>C | CA457218583 | MET | c.*890G>C (n.*890G>C) c.3339G>C (p.Gly1113=) c.3285G>C (p.Gly1095=) c.1995G>C (p.Gly665=) c.3342G>C (p.Gly1114=) n.3416G>C | dbSNP |
| 7 | g.116777414G>T | CA457218584 | MET | c.*890G>T (n.*890G>T) c.3339G>T (p.Gly1113=) c.3285G>T (p.Gly1095=) c.1995G>T (p.Gly665=) c.3342G>T (p.Gly1114=) n.3416G>T | dbSNP COSMIC |
| 7 | g.116777415A>C | CA368989617 | MET | c.*891A>C (n.*891A>C) c.3340A>C (p.Thr1114Pro) c.3286A>C (p.Thr1096Pro) c.1996A>C (p.Thr666Pro) c.3343A>C (p.Thr1115Pro) n.3417A>C | |
| 7 | g.116777415A>G | CA368989614 | MET | c.*891A>G (n.*891A>G) c.3340A>G (p.Thr1114Ala) c.3286A>G (p.Thr1096Ala) c.1996A>G (p.Thr666Ala) c.3343A>G (p.Thr1115Ala) n.3417A>G | ClinVar dbSNP |
| 7 | g.116777415A>T | CA368989616 | MET | c.*891A>T (n.*891A>T) c.3340A>T (p.Thr1114Ser) c.3286A>T (p.Thr1096Ser) c.1996A>T (p.Thr666Ser) c.3343A>T (p.Thr1115Ser) n.3417A>T | dbSNP |
| 7 | g.116777416C>A | CA368989619 | MET | c.*892C>A (n.*892C>A) c.3341C>A (p.Thr1114Asn) c.3287C>A (p.Thr1096Asn) c.1997C>A (p.Thr666Asn) c.3344C>A (p.Thr1115Asn) n.3418C>A | |
| 7 | g.116777416C= | CA1737039892 | MET | c.*892C= (n.*892C=) c.3341C= (p.Thr1114=) c.3287C= (p.Thr1096=) c.1997C= (p.Thr666=) c.3344C= (p.Thr1115=) n.3418C= | |
| 7 | g.116777416C>G | CA164908391 | MET | c.*892C>G (n.*892C>G) c.3341C>G (p.Thr1114Ser) c.3287C>G (p.Thr1096Ser) c.1997C>G (p.Thr666Ser) c.3344C>G (p.Thr1115Ser) n.3418C>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.116777416C>T | CA368989621 | MET | c.*892C>T (n.*892C>T) c.3341C>T (p.Thr1114Ile) c.3287C>T (p.Thr1096Ile) c.1997C>T (p.Thr666Ile) c.3344C>T (p.Thr1115Ile) n.3418C>T | ClinVar dbSNP |
| 7 | g.116777417T>A | CA457218586 | MET | c.*893T>A (n.*893T>A) c.3342T>A (p.Thr1114=) c.3288T>A (p.Thr1096=) c.1998T>A (p.Thr666=) c.3345T>A (p.Thr1115=) n.3419T>A | |
| 7 | g.116777417T>C | CA457218588 | MET | c.*893T>C (n.*893T>C) c.3342T>C (p.Thr1114=) c.3288T>C (p.Thr1096=) c.1998T>C (p.Thr666=) c.3345T>C (p.Thr1115=) n.3419T>C | |
| 7 | g.116777417T>G | CA457218587 | MET | c.*893T>G (n.*893T>G) c.3342T>G (p.Thr1114=) c.3288T>G (p.Thr1096=) c.1998T>G (p.Thr666=) c.3345T>G (p.Thr1115=) n.3419T>G | |
| 7 | g.116777418T>A | CA368989624 | MET | c.*894T>A (n.*894T>A) c.3343T>A (p.Leu1115Met) c.3289T>A (p.Leu1097Met) c.1999T>A (p.Leu667Met) c.3346T>A (p.Leu1116Met) n.3420T>A | |
| 7 | g.116777418T>C | CA4448690 | MET | c.*894T>C (n.*894T>C) c.3343T>C (p.Leu1115=) c.3289T>C (p.Leu1097=) c.1999T>C (p.Leu667=) c.3346T>C (p.Leu1116=) n.3420T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116777418T>G | CA164908398 | MET | c.*894T>G (n.*894T>G) c.3343T>G (p.Leu1115Val) c.3289T>G (p.Leu1097Val) c.1999T>G (p.Leu667Val) c.3346T>G (p.Leu1116Val) n.3420T>G | dbSNP |
| 7 | g.116777418T= | CA1737039893 | MET | c.*894T= (n.*894T=) c.3343T= (p.Leu1115=) c.3289T= (p.Leu1097=) c.1999T= (p.Leu667=) c.3346T= (p.Leu1116=) n.3420T= | |
| 7 | g.116777419T>A | CA368989627 | MET | c.*895T>A (n.*895T>A) c.3344T>A (p.Leu1115Ter) c.3290T>A (p.Leu1097Ter) c.2000T>A (p.Leu667Ter) c.3347T>A (p.Leu1116Ter) n.3421T>A | |
| 7 | g.116777419T>C | CA368989629 | MET | c.*895T>C (n.*895T>C) c.3344T>C (p.Leu1115Ser) c.3290T>C (p.Leu1097Ser) c.2000T>C (p.Leu667Ser) c.3347T>C (p.Leu1116Ser) n.3421T>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116777419T>G | CA368989630 | MET | c.*895T>G (n.*895T>G) c.3344T>G (p.Leu1115Trp) c.3290T>G (p.Leu1097Trp) c.2000T>G (p.Leu667Trp) c.3347T>G (p.Leu1116Trp) n.3421T>G | |
| 7 | g.116777419T= | CA1737039894 | MET | c.*895T= (n.*895T=) c.3344T= (p.Leu1115=) c.3290T= (p.Leu1097=) c.2000T= (p.Leu667=) c.3347T= (p.Leu1116=) n.3421T= | |
| 7 | g.116777420G>A | CA457218589 | MET | c.*896G>A (n.*896G>A) c.3345G>A (p.Leu1115=) c.3291G>A (p.Leu1097=) c.2001G>A (p.Leu667=) c.3348G>A (p.Leu1116=) n.3422G>A | |
| 7 | g.116777420G>C | CA368989631 | MET | c.*896G>C (n.*896G>C) c.3345G>C (p.Leu1115Phe) c.3291G>C (p.Leu1097Phe) c.2001G>C (p.Leu667Phe) c.3348G>C (p.Leu1116Phe) n.3422G>C | dbSNP |
| 7 | g.116777420G>T | CA368989633 | MET | c.*896G>T (n.*896G>T) c.3345G>T (p.Leu1115Phe) c.3291G>T (p.Leu1097Phe) c.2001G>T (p.Leu667Phe) c.3348G>T (p.Leu1116Phe) n.3422G>T | ClinVar dbSNP |
| 7 | g.116777421T>A | CA368989635 | MET | c.*897T>A (n.*897T>A) c.3346T>A (p.Leu1116Met) c.3292T>A (p.Leu1098Met) c.2002T>A (p.Leu668Met) c.3349T>A (p.Leu1117Met) n.3423T>A | dbSNP |
| 7 | g.116777421T>C | CA16612163 | MET | c.*897T>C (n.*897T>C) c.3346T>C (p.Leu1116=) c.3292T>C (p.Leu1098=) c.2002T>C (p.Leu668=) c.3349T>C (p.Leu1117=) n.3423T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116777421T>G | CA368989637 | MET | c.*897T>G (n.*897T>G) c.3346T>G (p.Leu1116Val) c.3292T>G (p.Leu1098Val) c.2002T>G (p.Leu668Val) c.3349T>G (p.Leu1117Val) n.3423T>G | |
| 7 | g.116777421T= | CA1737039895 | MET | c.*897T= (n.*897T=) c.3346T= (p.Leu1116=) c.3292T= (p.Leu1098=) c.2002T= (p.Leu668=) c.3349T= (p.Leu1117=) n.3423T= | |
| 7 | g.116777422T>A | CA368989639 | MET | c.*898T>A (n.*898T>A) c.3347T>A (p.Leu1116Ter) c.3293T>A (p.Leu1098Ter) c.2003T>A (p.Leu668Ter) c.3350T>A (p.Leu1117Ter) n.3424T>A | |
| 7 | g.116777422T>C | CA368989641 | MET | c.*898T>C (n.*898T>C) c.3347T>C (p.Leu1116Ser) c.3293T>C (p.Leu1098Ser) c.2003T>C (p.Leu668Ser) c.3350T>C (p.Leu1117Ser) n.3424T>C | ClinVar gnomAD v4 |
| 7 | g.116777422T>G | CA368989643 | MET | c.*898T>G (n.*898T>G) c.3347T>G (p.Leu1116Trp) c.3293T>G (p.Leu1098Trp) c.2003T>G (p.Leu668Trp) c.3350T>G (p.Leu1117Trp) n.3424T>G | |
| 7 | g.116777423G>A | CA457218590 | MET | c.*899G>A (n.*899G>A) c.3348G>A (p.Leu1116=) c.3294G>A (p.Leu1098=) c.2004G>A (p.Leu668=) c.3351G>A (p.Leu1117=) n.3425G>A | ClinVar dbSNP |
| 7 | g.116777423G>C | CA368989645 | MET | c.*899G>C (n.*899G>C) c.3348G>C (p.Leu1116Phe) c.3294G>C (p.Leu1098Phe) c.2004G>C (p.Leu668Phe) c.3351G>C (p.Leu1117Phe) n.3425G>C | dbSNP |
| 7 | g.116777423G>T | CA368989647 | MET | c.*899G>T (n.*899G>T) c.3348G>T (p.Leu1116Phe) c.3294G>T (p.Leu1098Phe) c.2004G>T (p.Leu668Phe) c.3351G>T (p.Leu1117Phe) n.3425G>T | dbSNP |