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 |
|---|---|---|---|---|---|
| 17 | g.50187094C>A | CA257878 | COL1A1 | c.3452G>T (p.Gly1151Val) n.29G>T c.3182G>T (p.Gly1061Val) c.2534G>T (p.Gly845Val) c.3254G>T (p.Gly1085Val) | ClinVar dbSNP |
| 17 | g.50187094C= | CA2263914527 | COL1A1 | c.3452G= (p.Gly1151=) n.29G= c.3182G= (p.Gly1061=) c.2534G= (p.Gly845=) c.3254G= (p.Gly1085=) | |
| 17 | g.50187094C>G | CA400198910 | COL1A1 | c.3452G>C (p.Gly1151Ala) n.29G>C c.3182G>C (p.Gly1061Ala) c.2534G>C (p.Gly845Ala) c.3254G>C (p.Gly1085Ala) | |
| 17 | g.50187094C>T | CA400198911 | COL1A1 | c.3452G>A (p.Gly1151Asp) n.29G>A c.3182G>A (p.Gly1061Asp) c.2534G>A (p.Gly845Asp) c.3254G>A (p.Gly1085Asp) | dbSNP gnomAD v2 |
| 17 | g.50187095del | CA2580094194 | COL1A1 | c.3452del (p.Gly1151AlafsTer?) n.29del c.3182del (p.Gly1061AlafsTer?) c.2534del (p.Gly845AlafsTer?) c.3254del (p.Gly1085AlafsTer?) | ClinVar |
| 17 | g.50187095C>A | CA400198914 | COL1A1 | c.3451G>T (p.Gly1151Cys) n.28G>T c.3181G>T (p.Gly1061Cys) c.2533G>T (p.Gly845Cys) c.3253G>T (p.Gly1085Cys) | |
| 17 | g.50187095C= | CA2263914528 | COL1A1 | c.3451G= (p.Gly1151=) n.28G= c.3181G= (p.Gly1061=) c.2533G= (p.Gly845=) c.3253G= (p.Gly1085=) | |
| 17 | g.50187095C>G | CA400198916 | COL1A1 | c.3451G>C (p.Gly1151Arg) n.28G>C c.3181G>C (p.Gly1061Arg) c.2533G>C (p.Gly845Arg) c.3253G>C (p.Gly1085Arg) | |
| 17 | g.50187095C>T | CA291542913 | COL1A1 | c.3451G>A (p.Gly1151Ser) n.28G>A c.3181G>A (p.Gly1061Ser) c.2533G>A (p.Gly845Ser) c.3253G>A (p.Gly1085Ser) | ClinVar dbSNP |
| 17 | g.50187096A>C | CA500992134 | COL1A1 | c.3450T>G (p.Pro1150=) n.27T>G c.3180T>G (p.Pro1060=) c.2532T>G (p.Pro844=) c.3252T>G (p.Pro1084=) | |
| 17 | g.50187096A>G | CA500992136 | COL1A1 | c.3450T>C (p.Pro1150=) n.27T>C c.3180T>C (p.Pro1060=) c.2532T>C (p.Pro844=) c.3252T>C (p.Pro1084=) | |
| 17 | g.50187096A>T | CA500992137 | COL1A1 | c.3450T>A (p.Pro1150=) n.27T>A c.3180T>A (p.Pro1060=) c.2532T>A (p.Pro844=) c.3252T>A (p.Pro1084=) | |
| 17 | g.50187096dup | CA2695226451 | COL1A1 | c.3450dup (p.Gly1151TrpfsTer23) n.27dup c.3180dup (p.Gly1061TrpfsTer23) c.2532dup (p.Gly845TrpfsTer23) c.3252dup (p.Gly1085TrpfsTer23) | |
| 17 | g.50187097G>A | CA400198918 | COL1A1 | c.3449C>T (p.Pro1150Leu) n.26C>T c.3179C>T (p.Pro1060Leu) c.2531C>T (p.Pro844Leu) c.3251C>T (p.Pro1084Leu) | dbSNP gnomAD v2 |
| 17 | g.50187097G>C | CA400198920 | COL1A1 | c.3449C>G (p.Pro1150Arg) n.26C>G c.3179C>G (p.Pro1060Arg) c.2531C>G (p.Pro844Arg) c.3251C>G (p.Pro1084Arg) | |
| 17 | g.50187097G= | CA2263914529 | COL1A1 | c.3449C= (p.Pro1150=) n.26C= c.3179C= (p.Pro1060=) c.2531C= (p.Pro844=) c.3251C= (p.Pro1084=) | |
| 17 | g.50187097G>T | CA400198921 | COL1A1 | c.3449C>A (p.Pro1150His) n.26C>A c.3179C>A (p.Pro1060His) c.2531C>A (p.Pro844His) c.3251C>A (p.Pro1084His) | |
| 17 | g.50187098G>A | CA8644433 | COL1A1 | c.3448C>T (p.Pro1150Ser) n.25C>T c.3178C>T (p.Pro1060Ser) c.2530C>T (p.Pro844Ser) c.3250C>T (p.Pro1084Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50187098G>C | CA400198924 | COL1A1 | c.3448C>G (p.Pro1150Ala) n.25C>G c.3178C>G (p.Pro1060Ala) c.2530C>G (p.Pro844Ala) c.3250C>G (p.Pro1084Ala) | |
| 17 | g.50187098G= | CA2263914530 | COL1A1 | c.3448C= (p.Pro1150=) n.25C= c.3178C= (p.Pro1060=) c.2530C= (p.Pro844=) c.3250C= (p.Pro1084=) | |
| 17 | g.50187098G>T | CA400198925 | COL1A1 | c.3448C>A (p.Pro1150Thr) n.25C>A c.3178C>A (p.Pro1060Thr) c.2530C>A (p.Pro844Thr) c.3250C>A (p.Pro1084Thr) | |
| 17 | g.50187099A>C | CA500992141 | COL1A1 | c.3447T>G (p.Ala1149=) n.24T>G c.3177T>G (p.Ala1059=) c.2529T>G (p.Ala843=) c.3249T>G (p.Ala1083=) | |
| 17 | g.50187099A>G | CA500992142 | COL1A1 | c.3447T>C (p.Ala1149=) n.24T>C c.3177T>C (p.Ala1059=) c.2529T>C (p.Ala843=) c.3249T>C (p.Ala1083=) | |
| 17 | g.50187099A>T | CA500992143 | COL1A1 | c.3447T>A (p.Ala1149=) n.24T>A c.3177T>A (p.Ala1059=) c.2529T>A (p.Ala843=) c.3249T>A (p.Ala1083=) | |
| 17 | g.50187100G>A | CA400198926 | COL1A1 | c.3446C>T (p.Ala1149Val) n.23C>T c.3176C>T (p.Ala1059Val) c.2528C>T (p.Ala843Val) c.3248C>T (p.Ala1083Val) | |
| 17 | g.50187100G>C | CA400198928 | COL1A1 | c.3446C>G (p.Ala1149Gly) n.23C>G c.3176C>G (p.Ala1059Gly) c.2528C>G (p.Ala843Gly) c.3248C>G (p.Ala1083Gly) | |
| 17 | g.50187100G>T | CA400198930 | COL1A1 | c.3446C>A (p.Ala1149Asp) n.23C>A c.3176C>A (p.Ala1059Asp) c.2528C>A (p.Ala843Asp) c.3248C>A (p.Ala1083Asp) | |
| 17 | g.50187101C>A | CA400198932 | COL1A1 | c.3445G>T (p.Ala1149Ser) n.22G>T c.3175G>T (p.Ala1059Ser) c.2527G>T (p.Ala843Ser) c.3247G>T (p.Ala1083Ser) | ClinVar |
| 17 | g.50187101C= | CA2263914531 | COL1A1 | c.3445G= (p.Ala1149=) n.22G= c.3175G= (p.Ala1059=) c.2527G= (p.Ala843=) c.3247G= (p.Ala1083=) | |
| 17 | g.50187101C>G | CA400198933 | COL1A1 | c.3445G>C (p.Ala1149Pro) n.22G>C c.3175G>C (p.Ala1059Pro) c.2527G>C (p.Ala843Pro) c.3247G>C (p.Ala1083Pro) | gnomAD v4 |
| 17 | g.50187101C>T | CA400198935 | COL1A1 | c.3445G>A (p.Ala1149Thr) n.22G>A c.3175G>A (p.Ala1059Thr) c.2527G>A (p.Ala843Thr) c.3247G>A (p.Ala1083Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50187102A>C | CA500844037 | COL1A1 | c.3444T>G (p.Gly1148=) n.21T>G c.3174T>G (p.Gly1058=) c.2526T>G (p.Gly842=) c.3246T>G (p.Gly1082=) | |
| 17 | g.50187102A>G | CA500844038 | COL1A1 | c.3444T>C (p.Gly1148=) n.21T>C c.3174T>C (p.Gly1058=) c.2526T>C (p.Gly842=) c.3246T>C (p.Gly1082=) | |
| 17 | g.50187102A>T | CA500844039 | COL1A1 | c.3444T>A (p.Gly1148=) n.21T>A c.3174T>A (p.Gly1058=) c.2526T>A (p.Gly842=) c.3246T>A (p.Gly1082=) | |
| 17 | g.50187103C>A | CA400198948 | COL1A1 | c.3443G>T (p.Gly1148Val) n.20G>T c.3173G>T (p.Gly1058Val) c.2525G>T (p.Gly842Val) c.3245G>T (p.Gly1082Val) | |
| 17 | g.50187103C= | CA2263914532 | COL1A1 | c.3443G= (p.Gly1148=) n.20G= c.3173G= (p.Gly1058=) c.2525G= (p.Gly842=) c.3245G= (p.Gly1082=) | |
| 17 | g.50187103C>G | CA400198937 | COL1A1 | c.3443G>C (p.Gly1148Ala) n.20G>C c.3173G>C (p.Gly1058Ala) c.2525G>C (p.Gly842Ala) c.3245G>C (p.Gly1082Ala) | |
| 17 | g.50187103C>T | CA400198947 | COL1A1 | c.3443G>A (p.Gly1148Asp) n.20G>A c.3173G>A (p.Gly1058Asp) c.2525G>A (p.Gly842Asp) c.3245G>A (p.Gly1082Asp) | ClinVar dbSNP |
| 17 | g.50187104C>A | CA400198950 | COL1A1 | c.3442G>T (p.Gly1148Cys) n.19G>T c.3172G>T (p.Gly1058Cys) c.2524G>T (p.Gly842Cys) c.3244G>T (p.Gly1082Cys) | |
| 17 | g.50187104C>G | CA400198952 | COL1A1 | c.3442G>C (p.Gly1148Arg) n.19G>C c.3172G>C (p.Gly1058Arg) c.2524G>C (p.Gly842Arg) c.3244G>C (p.Gly1082Arg) | |
| 17 | g.50187104C>T | CA400198954 | COL1A1 | c.3442G>A (p.Gly1148Ser) n.19G>A c.3172G>A (p.Gly1058Ser) c.2524G>A (p.Gly842Ser) c.3244G>A (p.Gly1082Ser) | |
| 17 | g.50187105A= | CA2263914533 | COL1A1 | c.3441T= (p.Ala1147=) n.18T= c.3171T= (p.Ala1057=) c.2523T= (p.Ala841=) c.3243T= (p.Ala1081=) | |
| 17 | g.50187105A>C | CA500844040 | COL1A1 | c.3441T>G (p.Ala1147=) n.18T>G c.3171T>G (p.Ala1057=) c.2523T>G (p.Ala841=) c.3243T>G (p.Ala1081=) | |
| 17 | g.50187105A>G | CA8644434 | COL1A1 | c.3441T>C (p.Ala1147=) n.18T>C c.3171T>C (p.Ala1057=) c.2523T>C (p.Ala841=) c.3243T>C (p.Ala1081=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50187105A>T | CA500844041 | COL1A1 | c.3441T>A (p.Ala1147=) n.18T>A c.3171T>A (p.Ala1057=) c.2523T>A (p.Ala841=) c.3243T>A (p.Ala1081=) | |
| 17 | g.50187106G>A | CA400198958 | COL1A1 | c.3440C>T (p.Ala1147Val) n.17C>T c.3170C>T (p.Ala1057Val) c.2522C>T (p.Ala841Val) c.3242C>T (p.Ala1081Val) | |
| 17 | g.50187106G>C | CA400198959 | COL1A1 | c.3440C>G (p.Ala1147Gly) n.17C>G c.3170C>G (p.Ala1057Gly) c.2522C>G (p.Ala841Gly) c.3242C>G (p.Ala1081Gly) | |
| 17 | g.50187106G>T | CA400198962 | COL1A1 | c.3440C>A (p.Ala1147Asp) n.17C>A c.3170C>A (p.Ala1057Asp) c.2522C>A (p.Ala841Asp) c.3242C>A (p.Ala1081Asp) | gnomAD v4 |
| 17 | g.50187107C>A | CA291542914 | COL1A1 | c.3439G>T (p.Ala1147Ser) n.16G>T c.3169G>T (p.Ala1057Ser) c.2521G>T (p.Ala841Ser) c.3241G>T (p.Ala1081Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50187107C= | CA2263914534 | COL1A1 | c.3439G= (p.Ala1147=) n.16G= c.3169G= (p.Ala1057=) c.2521G= (p.Ala841=) c.3241G= (p.Ala1081=) |