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 |
|---|---|---|---|---|---|
| 16 | g.16177552G>A | CA7925901 | ABCC6 | c.2490C>T (p.Ala830=) c.2415+1246C>T (n.2415+1246C>T) c.2457C>T (p.Ala819=) c.2148C>T (p.Ala716=) n.2725C>T n.2726C>T n.2452+1246C>T c.2322C>T (p.Ala774=) c.2526C>T (p.Ala842=) n.2671C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16177552G>C | CA493799814 | ABCC6 | c.2490C>G (p.Ala830=) c.2415+1246C>G (n.2415+1246C>G) c.2457C>G (p.Ala819=) c.2148C>G (p.Ala716=) n.2725C>G n.2726C>G n.2452+1246C>G c.2322C>G (p.Ala774=) c.2526C>G (p.Ala842=) n.2671C>G | |
| 16 | g.16177552G= | CA2210147269 | ABCC6 | c.2490C= (p.Ala830=) c.2415+1246C= (n.2415+1246C=) c.2457C= (p.Ala819=) c.2148C= (p.Ala716=) n.2725C= n.2726C= n.2452+1246C= c.2322C= (p.Ala774=) c.2526C= (p.Ala842=) n.2671C= | |
| 16 | g.16177552G>T | CA493799815 | ABCC6 | c.2490C>A (p.Ala830=) c.2415+1246C>A (n.2415+1246C>A) c.2457C>A (p.Ala819=) c.2148C>A (p.Ala716=) n.2725C>A n.2726C>A n.2452+1246C>A c.2322C>A (p.Ala774=) c.2526C>A (p.Ala842=) n.2671C>A | |
| 16 | g.16177553G>A | CA394887713 | ABCC6 | c.2489C>T (p.Ala830Val) c.2415+1245C>T (n.2415+1245C>T) c.2456C>T (p.Ala819Val) c.2147C>T (p.Ala716Val) n.2724C>T n.2725C>T n.2452+1245C>T c.2321C>T (p.Ala774Val) c.2525C>T (p.Ala842Val) n.2670C>T | |
| 16 | g.16177553G>C | CA394887715 | ABCC6 | c.2489C>G (p.Ala830Gly) c.2415+1245C>G (n.2415+1245C>G) c.2456C>G (p.Ala819Gly) c.2147C>G (p.Ala716Gly) n.2724C>G n.2725C>G n.2452+1245C>G c.2321C>G (p.Ala774Gly) c.2525C>G (p.Ala842Gly) n.2670C>G | |
| 16 | g.16177553G>T | CA394887714 | ABCC6 | c.2489C>A (p.Ala830Asp) c.2415+1245C>A (n.2415+1245C>A) c.2456C>A (p.Ala819Asp) c.2147C>A (p.Ala716Asp) n.2724C>A n.2725C>A n.2452+1245C>A c.2321C>A (p.Ala774Asp) c.2525C>A (p.Ala842Asp) n.2670C>A | |
| 16 | g.16177554C>A | CA394887716 | ABCC6 | c.2488G>T (p.Ala830Ser) c.2415+1244G>T (n.2415+1244G>T) c.2455G>T (p.Ala819Ser) c.2146G>T (p.Ala716Ser) n.2723G>T n.2724G>T n.2452+1244G>T c.2320G>T (p.Ala774Ser) c.2524G>T (p.Ala842Ser) n.2669G>T | gnomAD v4 |
| 16 | g.16177554C= | CA2210147270 | ABCC6 | c.2488G= (p.Ala830=) c.2415+1244G= (n.2415+1244G=) c.2455G= (p.Ala819=) c.2146G= (p.Ala716=) n.2723G= n.2724G= n.2452+1244G= c.2320G= (p.Ala774=) c.2524G= (p.Ala842=) n.2669G= | |
| 16 | g.16177554C>G | CA394887718 | ABCC6 | c.2488G>C (p.Ala830Pro) c.2415+1244G>C (n.2415+1244G>C) c.2455G>C (p.Ala819Pro) c.2146G>C (p.Ala716Pro) n.2723G>C n.2724G>C n.2452+1244G>C c.2320G>C (p.Ala774Pro) c.2524G>C (p.Ala842Pro) n.2669G>C | ClinVar dbSNP |
| 16 | g.16177554C>T | CA394887717 | ABCC6 | c.2488G>A (p.Ala830Thr) c.2415+1244G>A (n.2415+1244G>A) c.2455G>A (p.Ala819Thr) c.2146G>A (p.Ala716Thr) n.2723G>A n.2724G>A n.2452+1244G>A c.2320G>A (p.Ala774Thr) c.2524G>A (p.Ala842Thr) n.2669G>A | ClinVar |
| 16 | g.16177555C>A | CA493799816 | ABCC6 | c.2487G>T (p.Gly829=) c.2415+1243G>T (n.2415+1243G>T) c.2454G>T (p.Gly818=) c.2145G>T (p.Gly715=) n.2722G>T n.2723G>T n.2452+1243G>T c.2319G>T (p.Gly773=) c.2523G>T (p.Gly841=) n.2668G>T | |
| 16 | g.16177555C>G | CA493799817 | ABCC6 | c.2487G>C (p.Gly829=) c.2415+1243G>C (n.2415+1243G>C) c.2454G>C (p.Gly818=) c.2145G>C (p.Gly715=) n.2722G>C n.2723G>C n.2452+1243G>C c.2319G>C (p.Gly773=) c.2523G>C (p.Gly841=) n.2668G>C | |
| 16 | g.16177555C>T | CA493799818 | ABCC6 | c.2487G>A (p.Gly829=) c.2415+1243G>A (n.2415+1243G>A) c.2454G>A (p.Gly818=) c.2145G>A (p.Gly715=) n.2722G>A n.2723G>A n.2452+1243G>A c.2319G>A (p.Gly773=) c.2523G>A (p.Gly841=) n.2668G>A | gnomAD v4 COSMIC |
| 16 | g.16177556C>A | CA394887719 | ABCC6 | c.2486G>T (p.Gly829Val) c.2415+1242G>T (n.2415+1242G>T) c.2453G>T (p.Gly818Val) c.2144G>T (p.Gly715Val) n.2721G>T n.2722G>T n.2452+1242G>T c.2318G>T (p.Gly773Val) c.2522G>T (p.Gly841Val) n.2667G>T | |
| 16 | g.16177556C>G | CA394887721 | ABCC6 | c.2486G>C (p.Gly829Ala) c.2415+1242G>C (n.2415+1242G>C) c.2453G>C (p.Gly818Ala) c.2144G>C (p.Gly715Ala) n.2721G>C n.2722G>C n.2452+1242G>C c.2318G>C (p.Gly773Ala) c.2522G>C (p.Gly841Ala) n.2667G>C | gnomAD v4 |
| 16 | g.16177556C>T | CA394887720 | ABCC6 | c.2486G>A (p.Gly829Glu) c.2415+1242G>A (n.2415+1242G>A) c.2453G>A (p.Gly818Glu) c.2144G>A (p.Gly715Glu) n.2721G>A n.2722G>A n.2452+1242G>A c.2318G>A (p.Gly773Glu) c.2522G>A (p.Gly841Glu) n.2667G>A | |
| 16 | g.16177557C>A | CA394887722 | ABCC6 | c.2485G>T (p.Gly829Trp) c.2415+1241G>T (n.2415+1241G>T) c.2452G>T (p.Gly818Trp) c.2143G>T (p.Gly715Trp) n.2720G>T n.2721G>T n.2452+1241G>T c.2317G>T (p.Gly773Trp) c.2521G>T (p.Gly841Trp) n.2666G>T | gnomAD v4 |
| 16 | g.16177557C= | CA2210147271 | ABCC6 | c.2485G= (p.Gly829=) c.2415+1241G= (n.2415+1241G=) c.2452G= (p.Gly818=) c.2143G= (p.Gly715=) n.2720G= n.2721G= n.2452+1241G= c.2317G= (p.Gly773=) c.2521G= (p.Gly841=) n.2666G= | |
| 16 | g.16177557C>G | CA394887723 | ABCC6 | c.2485G>C (p.Gly829Arg) c.2415+1241G>C (n.2415+1241G>C) c.2452G>C (p.Gly818Arg) c.2143G>C (p.Gly715Arg) n.2720G>C n.2721G>C n.2452+1241G>C c.2317G>C (p.Gly773Arg) c.2521G>C (p.Gly841Arg) n.2666G>C | |
| 16 | g.16177557C>T | CA394887724 | ABCC6 | c.2485G>A (p.Gly829Arg) c.2415+1241G>A (n.2415+1241G>A) c.2452G>A (p.Gly818Arg) c.2143G>A (p.Gly715Arg) n.2720G>A n.2721G>A n.2452+1241G>A c.2317G>A (p.Gly773Arg) c.2521G>A (p.Gly841Arg) n.2666G>A | dbSNP |
| 16 | g.16177558A>C | CA394887725 | ABCC6 | c.2484T>G (p.Asn828Lys) c.2415+1240T>G (n.2415+1240T>G) c.2451T>G (p.Asn817Lys) c.2142T>G (p.Asn714Lys) n.2719T>G n.2720T>G n.2452+1240T>G c.2316T>G (p.Asn772Lys) c.2520T>G (p.Asn840Lys) n.2665T>G | |
| 16 | g.16177558A>G | CA493799819 | ABCC6 | c.2484T>C (p.Asn828=) c.2415+1240T>C (n.2415+1240T>C) c.2451T>C (p.Asn817=) c.2142T>C (p.Asn714=) n.2719T>C n.2720T>C n.2452+1240T>C c.2316T>C (p.Asn772=) c.2520T>C (p.Asn840=) n.2665T>C | |
| 16 | g.16177558A>T | CA394887726 | ABCC6 | c.2484T>A (p.Asn828Lys) c.2415+1240T>A (n.2415+1240T>A) c.2451T>A (p.Asn817Lys) c.2142T>A (p.Asn714Lys) n.2719T>A n.2720T>A n.2452+1240T>A c.2316T>A (p.Asn772Lys) c.2520T>A (p.Asn840Lys) n.2665T>A | |
| 16 | g.16177559T>A | CA394887727 | ABCC6 | c.2483A>T (p.Asn828Ile) c.2415+1239A>T (n.2415+1239A>T) c.2450A>T (p.Asn817Ile) c.2141A>T (p.Asn714Ile) n.2718A>T n.2719A>T n.2452+1239A>T c.2315A>T (p.Asn772Ile) c.2519A>T (p.Asn840Ile) n.2664A>T | |
| 16 | g.16177559T>C | CA394887728 | ABCC6 | c.2483A>G (p.Asn828Ser) c.2415+1239A>G (n.2415+1239A>G) c.2450A>G (p.Asn817Ser) c.2141A>G (p.Asn714Ser) n.2718A>G n.2719A>G n.2452+1239A>G c.2315A>G (p.Asn772Ser) c.2519A>G (p.Asn840Ser) n.2664A>G | |
| 16 | g.16177559T>G | CA394887729 | ABCC6 | c.2483A>C (p.Asn828Thr) c.2415+1239A>C (n.2415+1239A>C) c.2450A>C (p.Asn817Thr) c.2141A>C (p.Asn714Thr) n.2718A>C n.2719A>C n.2452+1239A>C c.2315A>C (p.Asn772Thr) c.2519A>C (p.Asn840Thr) n.2664A>C | |
| 16 | g.16177560T>A | CA394887730 | ABCC6 | c.2482A>T (p.Asn828Tyr) c.2415+1238A>T (n.2415+1238A>T) c.2449A>T (p.Asn817Tyr) c.2140A>T (p.Asn714Tyr) n.2717A>T n.2718A>T n.2452+1238A>T c.2314A>T (p.Asn772Tyr) c.2518A>T (p.Asn840Tyr) n.2663A>T | |
| 16 | g.16177560T>C | CA7925902 | ABCC6 | c.2482A>G (p.Asn828Asp) c.2415+1238A>G (n.2415+1238A>G) c.2449A>G (p.Asn817Asp) c.2140A>G (p.Asn714Asp) n.2717A>G n.2718A>G n.2452+1238A>G c.2314A>G (p.Asn772Asp) c.2518A>G (p.Asn840Asp) n.2663A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16177560T>G | CA7925903 | ABCC6 | c.2482A>C (p.Asn828His) c.2415+1238A>C (n.2415+1238A>C) c.2449A>C (p.Asn817His) c.2140A>C (p.Asn714His) n.2717A>C n.2718A>C n.2452+1238A>C c.2314A>C (p.Asn772His) c.2518A>C (p.Asn840His) n.2663A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.16177560T= | CA2210147272 | ABCC6 | c.2482A= (p.Asn828=) c.2415+1238A= (n.2415+1238A=) c.2449A= (p.Asn817=) c.2140A= (p.Asn714=) n.2717A= n.2718A= n.2452+1238A= c.2314A= (p.Asn772=) c.2518A= (p.Asn840=) n.2663A= | |
| 16 | g.16177561T>A | CA493799821 | ABCC6 | c.2481A>T (p.Ala827=) c.2415+1237A>T (n.2415+1237A>T) c.2448A>T (p.Ala816=) c.2139A>T (p.Ala713=) n.2716A>T n.2717A>T n.2452+1237A>T c.2313A>T (p.Ala771=) c.2517A>T (p.Ala839=) n.2662A>T | |
| 16 | g.16177561T>C | CA7925904 | ABCC6 | c.2481A>G (p.Ala827=) c.2415+1237A>G (n.2415+1237A>G) c.2448A>G (p.Ala816=) c.2139A>G (p.Ala713=) n.2716A>G n.2717A>G n.2452+1237A>G c.2313A>G (p.Ala771=) c.2517A>G (p.Ala839=) n.2662A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.16177561T>G | CA493799820 | ABCC6 | c.2481A>C (p.Ala827=) c.2415+1237A>C (n.2415+1237A>C) c.2448A>C (p.Ala816=) c.2139A>C (p.Ala713=) n.2716A>C n.2717A>C n.2452+1237A>C c.2313A>C (p.Ala771=) c.2517A>C (p.Ala839=) n.2662A>C | |
| 16 | g.16177561T= | CA2210147273 | ABCC6 | c.2481A= (p.Ala827=) c.2415+1237A= (n.2415+1237A=) c.2448A= (p.Ala816=) c.2139A= (p.Ala713=) n.2716A= n.2717A= n.2452+1237A= c.2313A= (p.Ala771=) c.2517A= (p.Ala839=) n.2662A= | |
| 16 | g.16177562G>A | CA394887731 | ABCC6 | c.2480C>T (p.Ala827Val) c.2415+1236C>T (n.2415+1236C>T) c.2447C>T (p.Ala816Val) c.2138C>T (p.Ala713Val) n.2715C>T n.2716C>T n.2452+1236C>T c.2312C>T (p.Ala771Val) c.2516C>T (p.Ala839Val) n.2661C>T | |
| 16 | g.16177562G>C | CA394887733 | ABCC6 | c.2480C>G (p.Ala827Gly) c.2415+1236C>G (n.2415+1236C>G) c.2447C>G (p.Ala816Gly) c.2138C>G (p.Ala713Gly) n.2715C>G n.2716C>G n.2452+1236C>G c.2312C>G (p.Ala771Gly) c.2516C>G (p.Ala839Gly) n.2661C>G | |
| 16 | g.16177562G>T | CA394887732 | ABCC6 | c.2480C>A (p.Ala827Glu) c.2415+1236C>A (n.2415+1236C>A) c.2447C>A (p.Ala816Glu) c.2138C>A (p.Ala713Glu) n.2715C>A n.2716C>A n.2452+1236C>A c.2312C>A (p.Ala771Glu) c.2516C>A (p.Ala839Glu) n.2661C>A | |
| 16 | g.16177563C>A | CA394887734 | ABCC6 | c.2479G>T (p.Ala827Ser) c.2415+1235G>T (n.2415+1235G>T) c.2446G>T (p.Ala816Ser) c.2137G>T (p.Ala713Ser) n.2714G>T n.2715G>T n.2452+1235G>T c.2311G>T (p.Ala771Ser) c.2515G>T (p.Ala839Ser) n.2660G>T | |
| 16 | g.16177563C= | CA2210147274 | ABCC6 | c.2479G= (p.Ala827=) c.2415+1235G= (n.2415+1235G=) c.2446G= (p.Ala816=) c.2137G= (p.Ala713=) n.2714G= n.2715G= n.2452+1235G= c.2311G= (p.Ala771=) c.2515G= (p.Ala839=) n.2660G= | |
| 16 | g.16177563C>G | CA394887735 | ABCC6 | c.2479G>C (p.Ala827Pro) c.2415+1235G>C (n.2415+1235G>C) c.2446G>C (p.Ala816Pro) c.2137G>C (p.Ala713Pro) n.2714G>C n.2715G>C n.2452+1235G>C c.2311G>C (p.Ala771Pro) c.2515G>C (p.Ala839Pro) n.2660G>C | |
| 16 | g.16177563C>T | CA394887736 | ABCC6 | c.2479G>A (p.Ala827Thr) c.2415+1235G>A (n.2415+1235G>A) c.2446G>A (p.Ala816Thr) c.2137G>A (p.Ala713Thr) n.2714G>A n.2715G>A n.2452+1235G>A c.2311G>A (p.Ala771Thr) c.2515G>A (p.Ala839Thr) n.2660G>A | dbSNP |
| 16 | g.16177564C>A | CA493799822 | ABCC6 | c.2478G>T (p.Leu826=) c.2415+1234G>T (n.2415+1234G>T) c.2445G>T (p.Leu815=) c.2136G>T (p.Leu712=) n.2713G>T n.2714G>T n.2452+1234G>T c.2310G>T (p.Leu770=) c.2514G>T (p.Leu838=) n.2659G>T | |
| 16 | g.16177564C= | CA2210147275 | ABCC6 | c.2478G= (p.Leu826=) c.2415+1234G= (n.2415+1234G=) c.2445G= (p.Leu815=) c.2136G= (p.Leu712=) n.2713G= n.2714G= n.2452+1234G= c.2310G= (p.Leu770=) c.2514G= (p.Leu838=) n.2659G= | |
| 16 | g.16177564C>G | CA7925905 | ABCC6 | c.2478G>C (p.Leu826=) c.2415+1234G>C (n.2415+1234G>C) c.2445G>C (p.Leu815=) c.2136G>C (p.Leu712=) n.2713G>C n.2714G>C n.2452+1234G>C c.2310G>C (p.Leu770=) c.2514G>C (p.Leu838=) n.2659G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16177564C>T | CA493799823 | ABCC6 | c.2478G>A (p.Leu826=) c.2415+1234G>A (n.2415+1234G>A) c.2445G>A (p.Leu815=) c.2136G>A (p.Leu712=) n.2713G>A n.2714G>A n.2452+1234G>A c.2310G>A (p.Leu770=) c.2514G>A (p.Leu838=) n.2659G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.16177565A= | CA2210147276 | ABCC6 | c.2477T= (p.Leu826=) c.2415+1233T= (n.2415+1233T=) c.2444T= (p.Leu815=) c.2135T= (p.Leu712=) n.2712T= n.2713T= n.2452+1233T= c.2309T= (p.Leu770=) c.2513T= (p.Leu838=) n.2658T= | |
| 16 | g.16177565A>C | CA394887737 | ABCC6 | c.2477T>G (p.Leu826Arg) c.2415+1233T>G (n.2415+1233T>G) c.2444T>G (p.Leu815Arg) c.2135T>G (p.Leu712Arg) n.2712T>G n.2713T>G n.2452+1233T>G c.2309T>G (p.Leu770Arg) c.2513T>G (p.Leu838Arg) n.2658T>G | |
| 16 | g.16177565A>G | CA7925906 | ABCC6 | c.2477T>C (p.Leu826Pro) c.2415+1233T>C (n.2415+1233T>C) c.2444T>C (p.Leu815Pro) c.2135T>C (p.Leu712Pro) n.2712T>C n.2713T>C n.2452+1233T>C c.2309T>C (p.Leu770Pro) c.2513T>C (p.Leu838Pro) n.2658T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16177565A>T | CA394887738 | ABCC6 | c.2477T>A (p.Leu826Gln) c.2415+1233T>A (n.2415+1233T>A) c.2444T>A (p.Leu815Gln) c.2135T>A (p.Leu712Gln) n.2712T>A n.2713T>A n.2452+1233T>A c.2309T>A (p.Leu770Gln) c.2513T>A (p.Leu838Gln) n.2658T>A |