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.50185776_50185783delinsTG | CA2695226431 | COL1A1 | c.4243_4248+2delinsCA c.3973_3978+2delinsCA c.3325_3330+2delinsCA c.4045_4050+2delinsCA | |
| 17 | g.50185778_50185779delinsCG | CA2263913842 | COL1A1 | c.4247_4248delinsCG (p.Thr1416=) c.3977_3978delinsCG (p.Thr1326=) c.3329_3330delinsCG (p.Thr1110=) c.4049_4050delinsCG (p.Thr1350=) | |
| 17 | g.50185780_50185790dup | CA2695226432 | COL1A1 | c.4238_4248dup (p.Ser1417MetfsTer14) c.3968_3978dup (p.Ser1327MetfsTer14) c.3320_3330dup (p.Ser1111MetfsTer14) c.4040_4050dup (p.Ser1351MetfsTer14) | |
| 17 | g.50185779del | CA261265 | COL1A1 | c.4247del (p.Thr1416ArgfsTer11) c.3977del (p.Thr1326ArgfsTer11) c.3329del (p.Thr1110ArgfsTer11) c.4049del (p.Thr1350ArgfsTer11) | ClinVar dbSNP |
| 17 | g.50185779G>A | CA400191138 | COL1A1 | c.4247C>T (p.Thr1416Met) c.3977C>T (p.Thr1326Met) c.3329C>T (p.Thr1110Met) c.4049C>T (p.Thr1350Met) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.50185779G>C | CA400191143 | COL1A1 | c.4247C>G (p.Thr1416Arg) c.3977C>G (p.Thr1326Arg) c.3329C>G (p.Thr1110Arg) c.4049C>G (p.Thr1350Arg) | |
| 17 | g.50185779G= | CA2263913844 | COL1A1 | c.4247C= (p.Thr1416=) c.3977C= (p.Thr1326=) c.3329C= (p.Thr1110=) c.4049C= (p.Thr1350=) | |
| 17 | g.50185779G>T | CA400191146 | COL1A1 | c.4247C>A (p.Thr1416Lys) c.3977C>A (p.Thr1326Lys) c.3329C>A (p.Thr1110Lys) c.4049C>A (p.Thr1350Lys) | |
| 17 | g.50185780T>A | CA400191153 | COL1A1 | c.4246A>T (p.Thr1416Ser) c.3976A>T (p.Thr1326Ser) c.3328A>T (p.Thr1110Ser) c.4048A>T (p.Thr1350Ser) | |
| 17 | g.50185780T>C | CA400191157 | COL1A1 | c.4246A>G (p.Thr1416Ala) c.3976A>G (p.Thr1326Ala) c.3328A>G (p.Thr1110Ala) c.4048A>G (p.Thr1350Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185780T>G | CA400191162 | COL1A1 | c.4246A>C (p.Thr1416Pro) c.3976A>C (p.Thr1326Pro) c.3328A>C (p.Thr1110Pro) c.4048A>C (p.Thr1350Pro) | |
| 17 | g.50185780T= | CA2263913845 | COL1A1 | c.4246A= (p.Thr1416=) c.3976A= (p.Thr1326=) c.3328A= (p.Thr1110=) c.4048A= (p.Thr1350=) | |
| 17 | g.50185781G>A | CA500991509 | COL1A1 | c.4245C>T (p.Cys1415=) c.3975C>T (p.Cys1325=) c.3327C>T (p.Cys1109=) c.4047C>T (p.Cys1349=) | dbSNP |
| 17 | g.50185781G>C | CA400191167 | COL1A1 | c.4245C>G (p.Cys1415Trp) c.3975C>G (p.Cys1325Trp) c.3327C>G (p.Cys1109Trp) c.4047C>G (p.Cys1349Trp) | |
| 17 | g.50185781G= | CA2263913846 | COL1A1 | c.4245C= (p.Cys1415=) c.3975C= (p.Cys1325=) c.3327C= (p.Cys1109=) c.4047C= (p.Cys1349=) | |
| 17 | g.50185781G>T | CA400191169 | COL1A1 | c.4245C>A (p.Cys1415Ter) c.3975C>A (p.Cys1325Ter) c.3327C>A (p.Cys1109Ter) c.4047C>A (p.Cys1349Ter) | ClinVar dbSNP |
| 17 | g.50185782C>A | CA400191176 | COL1A1 | c.4244G>T (p.Cys1415Phe) c.3974G>T (p.Cys1325Phe) c.3326G>T (p.Cys1109Phe) c.4046G>T (p.Cys1349Phe) | COSMIC |
| 17 | g.50185782C>G | CA400191179 | COL1A1 | c.4244G>C (p.Cys1415Ser) c.3974G>C (p.Cys1325Ser) c.3326G>C (p.Cys1109Ser) c.4046G>C (p.Cys1349Ser) | |
| 17 | g.50185782C>T | CA400191184 | COL1A1 | c.4244G>A (p.Cys1415Tyr) c.3974G>A (p.Cys1325Tyr) c.3326G>A (p.Cys1109Tyr) c.4046G>A (p.Cys1349Tyr) | |
| 17 | g.50185783A>C | CA400191189 | COL1A1 | c.4243T>G (p.Cys1415Gly) c.3973T>G (p.Cys1325Gly) c.3325T>G (p.Cys1109Gly) c.4045T>G (p.Cys1349Gly) | |
| 17 | g.50185783A>G | CA400191192 | COL1A1 | c.4243T>C (p.Cys1415Arg) c.3973T>C (p.Cys1325Arg) c.3325T>C (p.Cys1109Arg) c.4045T>C (p.Cys1349Arg) | |
| 17 | g.50185783A>T | CA400191191 | COL1A1 | c.4243T>A (p.Cys1415Ser) c.3973T>A (p.Cys1325Ser) c.3325T>A (p.Cys1109Ser) c.4045T>A (p.Cys1349Ser) | |
| 17 | g.50185784G>A | CA500991513 | COL1A1 | c.4242C>T (p.Gly1414=) c.3972C>T (p.Gly1324=) c.3324C>T (p.Gly1108=) c.4044C>T (p.Gly1348=) | ClinVar |
| 17 | g.50185784G>C | CA500991514 | COL1A1 | c.4242C>G (p.Gly1414=) c.3972C>G (p.Gly1324=) c.3324C>G (p.Gly1108=) c.4044C>G (p.Gly1348=) | |
| 17 | g.50185784G>T | CA500991515 | COL1A1 | c.4242C>A (p.Gly1414=) c.3972C>A (p.Gly1324=) c.3324C>A (p.Gly1108=) c.4044C>A (p.Gly1348=) | |
| 17 | g.50185785C>A | CA400191199 | COL1A1 | c.4241G>T (p.Gly1414Val) c.3971G>T (p.Gly1324Val) c.3323G>T (p.Gly1108Val) c.4043G>T (p.Gly1348Val) | ClinVar |
| 17 | g.50185785C= | CA2263913847 | COL1A1 | c.4241G= (p.Gly1414=) c.3971G= (p.Gly1324=) c.3323G= (p.Gly1108=) c.4043G= (p.Gly1348=) | |
| 17 | g.50185785C>G | CA400191208 | COL1A1 | c.4241G>C (p.Gly1414Ala) c.3971G>C (p.Gly1324Ala) c.3323G>C (p.Gly1108Ala) c.4043G>C (p.Gly1348Ala) | |
| 17 | g.50185785C>T | CA400191211 | COL1A1 | c.4241G>A (p.Gly1414Asp) c.3971G>A (p.Gly1324Asp) c.3323G>A (p.Gly1108Asp) c.4043G>A (p.Gly1348Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185786C>A | CA400191215 | COL1A1 | c.4240G>T (p.Gly1414Cys) c.3970G>T (p.Gly1324Cys) c.3322G>T (p.Gly1108Cys) c.4042G>T (p.Gly1348Cys) | |
| 17 | g.50185786C>G | CA400191218 | COL1A1 | c.4240G>C (p.Gly1414Arg) c.3970G>C (p.Gly1324Arg) c.3322G>C (p.Gly1108Arg) c.4042G>C (p.Gly1348Arg) | |
| 17 | g.50185786C>T | CA400191222 | COL1A1 | c.4240G>A (p.Gly1414Ser) c.3970G>A (p.Gly1324Ser) c.3322G>A (p.Gly1108Ser) c.4042G>A (p.Gly1348Ser) | |
| 17 | g.50185787A= | CA2263913848 | COL1A1 | c.4239T= (p.Asp1413=) c.3969T= (p.Asp1323=) c.3321T= (p.Asp1107=) c.4041T= (p.Asp1347=) | |
| 17 | g.50185787A>C | CA400191228 | COL1A1 | c.4239T>G (p.Asp1413Glu) c.3969T>G (p.Asp1323Glu) c.3321T>G (p.Asp1107Glu) c.4041T>G (p.Asp1347Glu) | |
| 17 | g.50185787A>G | CA8644220 | COL1A1 | c.4239T>C (p.Asp1413=) c.3969T>C (p.Asp1323=) c.3321T>C (p.Asp1107=) c.4041T>C (p.Asp1347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185787A>T | CA400191234 | COL1A1 | c.4239T>A (p.Asp1413Glu) c.3969T>A (p.Asp1323Glu) c.3321T>A (p.Asp1107Glu) c.4041T>A (p.Asp1347Glu) | ClinVar dbSNP |
| 17 | g.50185788T>A | CA400191238 | COL1A1 | c.4238A>T (p.Asp1413Val) c.3968A>T (p.Asp1323Val) c.3320A>T (p.Asp1107Val) c.4040A>T (p.Asp1347Val) | |
| 17 | g.50185788T>C | CA400191242 | COL1A1 | c.4238A>G (p.Asp1413Gly) c.3968A>G (p.Asp1323Gly) c.3320A>G (p.Asp1107Gly) c.4040A>G (p.Asp1347Gly) | ClinVar dbSNP |
| 17 | g.50185788T>G | CA400191245 | COL1A1 | c.4238A>C (p.Asp1413Ala) c.3968A>C (p.Asp1323Ala) c.3320A>C (p.Asp1107Ala) c.4040A>C (p.Asp1347Ala) | |
| 17 | g.50185789C>A | CA400191258 | COL1A1 | c.4237G>T (p.Asp1413Tyr) c.3967G>T (p.Asp1323Tyr) c.3319G>T (p.Asp1107Tyr) c.4039G>T (p.Asp1347Tyr) | |
| 17 | g.50185789C= | CA2263913849 | COL1A1 | c.4237G= (p.Asp1413=) c.3967G= (p.Asp1323=) c.3319G= (p.Asp1107=) c.4039G= (p.Asp1347=) | |
| 17 | g.50185789C>G | CA400191252 | COL1A1 | c.4237G>C (p.Asp1413His) c.3967G>C (p.Asp1323His) c.3319G>C (p.Asp1107His) c.4039G>C (p.Asp1347His) | |
| 17 | g.50185789C>T | CA291542789 | COL1A1 | c.4237G>A (p.Asp1413Asn) c.3967G>A (p.Asp1323Asn) c.3319G>A (p.Asp1107Asn) c.4039G>A (p.Asp1347Asn) | ClinVar dbSNP |
| 17 | g.50185791_50185799del | CA2695226436 | COL1A1 | c.4229_4237del (p.Val1410_Val1412del) c.3959_3967del (p.Val1320_Val1322del) c.3311_3319del (p.Val1104_Val1106del) c.4031_4039del (p.Val1344_Val1346del) | |
| 17 | g.50185790G>A | CA8644221 | COL1A1 | c.4236C>T (p.Val1412=) c.3966C>T (p.Val1322=) c.3318C>T (p.Val1106=) c.4038C>T (p.Val1346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185790G>C | CA500991520 | COL1A1 | c.4236C>G (p.Val1412=) c.3966C>G (p.Val1322=) c.3318C>G (p.Val1106=) c.4038C>G (p.Val1346=) | gnomAD v4 |
| 17 | g.50185790G= | CA2263913850 | COL1A1 | c.4236C= (p.Val1412=) c.3966C= (p.Val1322=) c.3318C= (p.Val1106=) c.4038C= (p.Val1346=) | |
| 17 | g.50185790G>T | CA8644222 | COL1A1 | c.4236C>A (p.Val1412=) c.3966C>A (p.Val1322=) c.3318C>A (p.Val1106=) c.4038C>A (p.Val1346=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185791A= | CA2263913851 | COL1A1 | c.4235T= (p.Val1412=) c.3965T= (p.Val1322=) c.3317T= (p.Val1106=) c.4037T= (p.Val1346=) | |
| 17 | g.50185791A>C | CA400191274 | COL1A1 | c.4235T>G (p.Val1412Gly) c.3965T>G (p.Val1322Gly) c.3317T>G (p.Val1106Gly) c.4037T>G (p.Val1346Gly) |