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.50188114_50188122dup | CA2580094216 | COL1A1 | c.3238_3246dup (p.Gly1082_Ala1083insProValGly) n.436_444dup n.562_570dup c.2968_2976dup (p.Gly992_Ala993insProValGly) c.2320_2328dup (p.Gly776_Ala777insProValGly) c.3040_3048dup (p.Gly1016_Ala1017insProValGly) | ClinVar |
| 17 | g.50188120_50188124delinsGCCGA | CA2263914989 | COL1A1 | c.3233_3237delinsTCGGC (p.Val1078=) n.431_435delinsTCGGC n.557_561delinsTCGGC c.2963_2967delinsTCGGC (p.Val988=) c.2315_2319delinsTCGGC (p.Val772=) c.3035_3039delinsTCGGC (p.Val1012=) | |
| 17 | g.50188122_50188125del | CA645293906 | COL1A1 | c.3233_3236del (p.Val1078AlafsTer29) n.431_434del n.557_560del c.2963_2966del (p.Val988AlafsTer29) c.2315_2318del (p.Val772AlafsTer29) c.3035_3038del (p.Val1012AlafsTer29) | ClinVar dbSNP |
| 17 | g.50188122C>A | CA400200127 | COL1A1 | c.3235G>T (p.Gly1079Cys) n.433G>T n.559G>T c.2965G>T (p.Gly989Cys) c.2317G>T (p.Gly773Cys) c.3037G>T (p.Gly1013Cys) | |
| 17 | g.50188122C= | CA2263914990 | COL1A1 | c.3235G= (p.Gly1079=) n.433G= n.559G= c.2965G= (p.Gly989=) c.2317G= (p.Gly773=) c.3037G= (p.Gly1013=) | |
| 17 | g.50188122C>G | CA400200131 | COL1A1 | c.3235G>C (p.Gly1079Arg) n.433G>C n.559G>C c.2965G>C (p.Gly989Arg) c.2317G>C (p.Gly773Arg) c.3037G>C (p.Gly1013Arg) | |
| 17 | g.50188122C>T | CA281089 | COL1A1 | c.3235G>A (p.Gly1079Ser) n.433G>A n.559G>A c.2965G>A (p.Gly989Ser) c.2317G>A (p.Gly773Ser) c.3037G>A (p.Gly1013Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50188122_50188123del | CA2809757586 | COL1A1 | c.3234_3235del (p.Gly1079ProfsTer16) n.432_433del n.558_559del c.2964_2965del (p.Gly989ProfsTer16) c.2316_2317del (p.Gly773ProfsTer16) c.3036_3037del (p.Gly1013ProfsTer16) | |
| 17 | g.50188123G>A | CA291543016 | COL1A1 | c.3234C>T (p.Val1078=) n.432C>T n.558C>T c.2964C>T (p.Val988=) c.2316C>T (p.Val772=) c.3036C>T (p.Val1012=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50188123G>C | CA500844305 | COL1A1 | c.3234C>G (p.Val1078=) n.432C>G n.558C>G c.2964C>G (p.Val988=) c.2316C>G (p.Val772=) c.3036C>G (p.Val1012=) | |
| 17 | g.50188123G= | CA2263914991 | COL1A1 | c.3234C= (p.Val1078=) n.432C= n.558C= c.2964C= (p.Val988=) c.2316C= (p.Val772=) c.3036C= (p.Val1012=) | |
| 17 | g.50188123G>T | CA8644517 | COL1A1 | c.3234C>A (p.Val1078=) n.432C>A n.558C>A c.2964C>A (p.Val988=) c.2316C>A (p.Val772=) c.3036C>A (p.Val1012=) | dbSNP ExAC gnomAD v4 |
| 17 | g.50188124A= | CA2263914992 | COL1A1 | c.3233T= (p.Val1078=) n.431T= n.557T= c.2963T= (p.Val988=) c.2315T= (p.Val772=) c.3035T= (p.Val1012=) | |
| 17 | g.50188124A>C | CA400200133 | COL1A1 | c.3233T>G (p.Val1078Gly) n.431T>G n.557T>G c.2963T>G (p.Val988Gly) c.2315T>G (p.Val772Gly) c.3035T>G (p.Val1012Gly) | |
| 17 | g.50188124A>G | CA8644518 | COL1A1 | c.3233T>C (p.Val1078Ala) n.431T>C n.557T>C c.2963T>C (p.Val988Ala) c.2315T>C (p.Val772Ala) c.3035T>C (p.Val1012Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50188124A>T | CA400200153 | COL1A1 | c.3233T>A (p.Val1078Asp) n.431T>A n.557T>A c.2963T>A (p.Val988Asp) c.2315T>A (p.Val772Asp) c.3035T>A (p.Val1012Asp) | ClinVar |
| 17 | g.50188125C>A | CA400200158 | COL1A1 | c.3232G>T (p.Val1078Phe) n.430G>T n.556G>T c.2962G>T (p.Val988Phe) c.2314G>T (p.Val772Phe) c.3034G>T (p.Val1012Phe) | COSMIC |
| 17 | g.50188125C= | CA2263914993 | COL1A1 | c.3232G= (p.Val1078=) n.430G= n.556G= c.2962G= (p.Val988=) c.2314G= (p.Val772=) c.3034G= (p.Val1012=) | |
| 17 | g.50188125C>G | CA400200162 | COL1A1 | c.3232G>C (p.Val1078Leu) n.430G>C n.556G>C c.2962G>C (p.Val988Leu) c.2314G>C (p.Val772Leu) c.3034G>C (p.Val1012Leu) | |
| 17 | g.50188125C>T | CA291543017 | COL1A1 | c.3232G>A (p.Val1078Ile) n.430G>A n.556G>A c.2962G>A (p.Val988Ile) c.2314G>A (p.Val772Ile) c.3034G>A (p.Val1012Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50188125dup | CA2809757590 | COL1A1 | c.3232dup (p.Val1078GlyfsTer18) n.430dup n.556dup c.2962dup (p.Val988GlyfsTer18) c.2314dup (p.Val772GlyfsTer18) c.3034dup (p.Val1012GlyfsTer18) | |
| 17 | g.50188126A= | CA2263914994 | COL1A1 | c.3231T= (p.Pro1077=) n.429T= n.555T= c.2961T= (p.Pro987=) c.2313T= (p.Pro771=) c.3033T= (p.Pro1011=) | |
| 17 | g.50188126A>C | CA500844339 | COL1A1 | c.3231T>G (p.Pro1077=) n.429T>G n.555T>G c.2961T>G (p.Pro987=) c.2313T>G (p.Pro771=) c.3033T>G (p.Pro1011=) | |
| 17 | g.50188126A>G | CA500844340 | COL1A1 | c.3231T>C (p.Pro1077=) n.429T>C n.555T>C c.2961T>C (p.Pro987=) c.2313T>C (p.Pro771=) c.3033T>C (p.Pro1011=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50188126A>T | CA500844341 | COL1A1 | c.3231T>A (p.Pro1077=) n.429T>A n.555T>A c.2961T>A (p.Pro987=) c.2313T>A (p.Pro771=) c.3033T>A (p.Pro1011=) | |
| 17 | g.50188126_50188127del | CA2695226464 | COL1A1 | c.3230_3231del (p.Pro1077ArgfsTer18) n.428_429del n.554_555del c.2960_2961del (p.Pro987ArgfsTer18) c.2312_2313del (p.Pro771ArgfsTer18) c.3032_3033del (p.Pro1011ArgfsTer18) | |
| 17 | g.50188127G>A | CA400200174 | COL1A1 | c.3230C>T (p.Pro1077Leu) n.428C>T n.554C>T c.2960C>T (p.Pro987Leu) c.2312C>T (p.Pro771Leu) c.3032C>T (p.Pro1011Leu) | |
| 17 | g.50188127G>C | CA400200175 | COL1A1 | c.3230C>G (p.Pro1077Arg) n.428C>G n.554C>G c.2960C>G (p.Pro987Arg) c.2312C>G (p.Pro771Arg) c.3032C>G (p.Pro1011Arg) | |
| 17 | g.50188127G>T | CA400200180 | COL1A1 | c.3230C>A (p.Pro1077His) n.428C>A n.554C>A c.2960C>A (p.Pro987His) c.2312C>A (p.Pro771His) c.3032C>A (p.Pro1011His) | gnomAD v4 |
| 17 | g.50188128G>A | CA400200185 | COL1A1 | c.3229C>T (p.Pro1077Ser) n.427C>T n.553C>T c.2959C>T (p.Pro987Ser) c.2311C>T (p.Pro771Ser) c.3031C>T (p.Pro1011Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50188128G>C | CA400200183 | COL1A1 | c.3229C>G (p.Pro1077Ala) n.427C>G n.553C>G c.2959C>G (p.Pro987Ala) c.2311C>G (p.Pro771Ala) c.3031C>G (p.Pro1011Ala) | |
| 17 | g.50188128G= | CA2263914995 | COL1A1 | c.3229C= (p.Pro1077=) n.427C= n.553C= c.2959C= (p.Pro987=) c.2311C= (p.Pro771=) c.3031C= (p.Pro1011=) | |
| 17 | g.50188128G>T | CA400200182 | COL1A1 | c.3229C>A (p.Pro1077Thr) n.427C>A n.553C>A c.2959C>A (p.Pro987Thr) c.2311C>A (p.Pro771Thr) c.3031C>A (p.Pro1011Thr) | |
| 17 | g.50188129A>C | CA500844343 | COL1A1 | c.3228T>G (p.Gly1076=) n.426T>G n.552T>G c.2958T>G (p.Gly986=) c.2310T>G (p.Gly770=) c.3030T>G (p.Gly1010=) | gnomAD v4 |
| 17 | g.50188129A>G | CA500844344 | COL1A1 | c.3228T>C (p.Gly1076=) n.426T>C n.552T>C c.2958T>C (p.Gly986=) c.2310T>C (p.Gly770=) c.3030T>C (p.Gly1010=) | |
| 17 | g.50188129A>T | CA500844345 | COL1A1 | c.3228T>A (p.Gly1076=) n.426T>A n.552T>A c.2958T>A (p.Gly986=) c.2310T>A (p.Gly770=) c.3030T>A (p.Gly1010=) | |
| 17 | g.50188129_50188130insGCA | CA2809757592 | COL1A1 | c.3228_3229insGCT (p.Gly1076_Pro1077insAla) n.426_427insGCT n.552_553insGCT c.2958_2959insGCT (p.Gly986_Pro987insAla) c.2310_2311insGCT (p.Gly770_Pro771insAla) c.3030_3031insGCT (p.Gly1010_Pro1011insAla) | |
| 17 | g.50188130C>A | CA400200188 | COL1A1 | c.3227G>T (p.Gly1076Val) n.425G>T n.551G>T c.2957G>T (p.Gly986Val) c.2309G>T (p.Gly770Val) c.3029G>T (p.Gly1010Val) | |
| 17 | g.50188130C>G | CA400200190 | COL1A1 | c.3227G>C (p.Gly1076Ala) n.425G>C n.551G>C c.2957G>C (p.Gly986Ala) c.2309G>C (p.Gly770Ala) c.3029G>C (p.Gly1010Ala) | |
| 17 | g.50188130C>T | CA400200194 | COL1A1 | c.3227G>A (p.Gly1076Asp) n.425G>A n.551G>A c.2957G>A (p.Gly986Asp) c.2309G>A (p.Gly770Asp) c.3029G>A (p.Gly1010Asp) | |
| 17 | g.50188131C>A | CA291543019 | COL1A1 | c.3226G>T (p.Gly1076Cys) n.424G>T n.550G>T c.2956G>T (p.Gly986Cys) c.2308G>T (p.Gly770Cys) c.3028G>T (p.Gly1010Cys) | dbSNP |
| 17 | g.50188131C= | CA2263914997 | COL1A1 | c.3226G= (p.Gly1076=) n.424G= n.550G= c.2956G= (p.Gly986=) c.2308G= (p.Gly770=) c.3028G= (p.Gly1010=) | |
| 17 | g.50188131C>G | CA400200203 | COL1A1 | c.3226G>C (p.Gly1076Arg) n.424G>C n.550G>C c.2956G>C (p.Gly986Arg) c.2308G>C (p.Gly770Arg) c.3028G>C (p.Gly1010Arg) | |
| 17 | g.50188131C>T | CA291543018 | COL1A1 | c.3226G>A (p.Gly1076Ser) n.424G>A n.550G>A c.2956G>A (p.Gly986Ser) c.2308G>A (p.Gly770Ser) c.3028G>A (p.Gly1010Ser) | ClinVar dbSNP |
| 17 | g.50188131_50188132delinsCG | CA2263914996 | COL1A1 | c.3225_3226delinsCG (p.Ala1075=) n.423_424delinsCG n.549_550delinsCG c.2955_2956delinsCG (p.Ala985=) c.2307_2308delinsCG (p.Ala769=) c.3027_3028delinsCG (p.Ala1009=) | |
| 17 | g.50188132G>A | CA8644519 | COL1A1 | c.3225C>T (p.Ala1075=) n.423C>T n.549C>T c.2955C>T (p.Ala985=) c.2307C>T (p.Ala769=) c.3027C>T (p.Ala1009=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50188132G>C | CA500844347 | COL1A1 | c.3225C>G (p.Ala1075=) n.423C>G n.549C>G c.2955C>G (p.Ala985=) c.2307C>G (p.Ala769=) c.3027C>G (p.Ala1009=) | |
| 17 | g.50188132G= | CA2263914998 | COL1A1 | c.3225C= (p.Ala1075=) n.423C= n.549C= c.2955C= (p.Ala985=) c.2307C= (p.Ala769=) c.3027C= (p.Ala1009=) | |
| 17 | g.50188132G>T | CA500844346 | COL1A1 | c.3225C>A (p.Ala1075=) n.423C>A n.549C>A c.2955C>A (p.Ala985=) c.2307C>A (p.Ala769=) c.3027C>A (p.Ala1009=) | ClinVar gnomAD v4 |
| 17 | g.50188133del | CA891843989 | COL1A1 | c.3225del (p.Gly1076ValfsTer?) n.423del n.549del c.2955del (p.Gly986ValfsTer?) c.2307del (p.Gly770ValfsTer?) c.3027del (p.Gly1010ValfsTer?) | ClinVar dbSNP |