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 |
|---|---|---|---|---|---|
| 1 | g.99891338A>C | CA419314499 | AGL | c.2931A>C (p.Arg977=) n.3142A>C c.2883A>C (p.Arg961=) c.2880A>C (p.Arg960=) c.1191A>C (p.Arg397=) | |
| 1 | g.99891338A>G | CA419314501 | AGL | c.2931A>G (p.Arg977=) n.3142A>G c.2883A>G (p.Arg961=) c.2880A>G (p.Arg960=) c.1191A>G (p.Arg397=) | gnomAD v4 |
| 1 | g.99891338A>T | CA419314500 | AGL | c.2931A>T (p.Arg977=) n.3142A>T c.2883A>T (p.Arg961=) c.2880A>T (p.Arg960=) c.1191A>T (p.Arg397=) | |
| 1 | g.99891339T>A | CA341325352 | AGL | c.2932T>A (p.Ser978Thr) n.3143T>A c.2884T>A (p.Ser962Thr) c.2881T>A (p.Ser961Thr) c.1192T>A (p.Ser398Thr) | |
| 1 | g.99891339T>C | CA341325354 | AGL | c.2932T>C (p.Ser978Pro) n.3143T>C c.2884T>C (p.Ser962Pro) c.2881T>C (p.Ser961Pro) c.1192T>C (p.Ser398Pro) | |
| 1 | g.99891339T>G | CA341325356 | AGL | c.2932T>G (p.Ser978Ala) n.3143T>G c.2884T>G (p.Ser962Ala) c.2881T>G (p.Ser961Ala) c.1192T>G (p.Ser398Ala) | |
| 1 | g.99891340C>A | CA341325360 | AGL | c.2933C>A (p.Ser978Ter) n.3144C>A c.2885C>A (p.Ser962Ter) c.2882C>A (p.Ser961Ter) c.1193C>A (p.Ser398Ter) | |
| 1 | g.99891340C>G | CA341325362 | AGL | c.2933C>G (p.Ser978Ter) n.3144C>G c.2885C>G (p.Ser962Ter) c.2882C>G (p.Ser961Ter) c.1193C>G (p.Ser398Ter) | |
| 1 | g.99891340C>T | CA341325358 | AGL | c.2933C>T (p.Ser978Leu) n.3144C>T c.2885C>T (p.Ser962Leu) c.2882C>T (p.Ser961Leu) c.1193C>T (p.Ser398Leu) | |
| 1 | g.99891341A= | CA1183933250 | AGL | c.2934A= (p.Ser978=) n.3145A= c.2886A= (p.Ser962=) c.2883A= (p.Ser961=) c.1194A= (p.Ser398=) | |
| 1 | g.99891341A>C | CA419314502 | AGL | c.2934A>C (p.Ser978=) n.3145A>C c.2886A>C (p.Ser962=) c.2883A>C (p.Ser961=) c.1194A>C (p.Ser398=) | |
| 1 | g.99891341A>G | CA419314503 | AGL | c.2934A>G (p.Ser978=) n.3145A>G c.2886A>G (p.Ser962=) c.2883A>G (p.Ser961=) c.1194A>G (p.Ser398=) | dbSNP gnomAD v4 |
| 1 | g.99891341A>T | CA419314504 | AGL | c.2934A>T (p.Ser978=) n.3145A>T c.2886A>T (p.Ser962=) c.2883A>T (p.Ser961=) c.1194A>T (p.Ser398=) | |
| 1 | g.99891342G>A | CA966933 | AGL | c.2935G>A (p.Gly979Arg) n.3146G>A c.2887G>A (p.Gly963Arg) c.2884G>A (p.Gly962Arg) c.1195G>A (p.Gly399Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99891342G>C | CA341325366 | AGL | c.2935G>C (p.Gly979Arg) n.3146G>C c.2887G>C (p.Gly963Arg) c.2884G>C (p.Gly962Arg) c.1195G>C (p.Gly399Arg) | |
| 1 | g.99891342G= | CA1183933251 | AGL | c.2935G= (p.Gly979=) n.3146G= c.2887G= (p.Gly963=) c.2884G= (p.Gly962=) c.1195G= (p.Gly399=) | |
| 1 | g.99891342G>T | CA341325369 | AGL | c.2935G>T (p.Gly979Ter) n.3146G>T c.2887G>T (p.Gly963Ter) c.2884G>T (p.Gly962Ter) c.1195G>T (p.Gly399Ter) | |
| 1 | g.99891343del | CA2574444490 | AGL | c.2936del (p.Gly979GlufsTer17) n.3147del c.2888del (p.Gly963GlufsTer17) c.2885del (p.Gly962GlufsTer17) c.1196del (p.Gly399GlufsTer17) | ClinVar gnomAD v4 |
| 1 | g.99891343G>A | CA341325374 | AGL | c.2936G>A (p.Gly979Glu) n.3147G>A c.2888G>A (p.Gly963Glu) c.2885G>A (p.Gly962Glu) c.1196G>A (p.Gly399Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99891343G>C | CA341325375 | AGL | c.2936G>C (p.Gly979Ala) n.3147G>C c.2888G>C (p.Gly963Ala) c.2885G>C (p.Gly962Ala) c.1196G>C (p.Gly399Ala) | |
| 1 | g.99891343G= | CA1183933252 | AGL | c.2936G= (p.Gly979=) n.3147G= c.2888G= (p.Gly963=) c.2885G= (p.Gly962=) c.1196G= (p.Gly399=) | |
| 1 | g.99891343G>T | CA341325377 | AGL | c.2936G>T (p.Gly979Val) n.3147G>T c.2888G>T (p.Gly963Val) c.2885G>T (p.Gly962Val) c.1196G>T (p.Gly399Val) | |
| 1 | g.99891344A>C | CA419314505 | AGL | c.2937A>C (p.Gly979=) n.3148A>C c.2889A>C (p.Gly963=) c.2886A>C (p.Gly962=) c.1197A>C (p.Gly399=) | |
| 1 | g.99891344A>G | CA419314506 | AGL | c.2937A>G (p.Gly979=) n.3148A>G c.2889A>G (p.Gly963=) c.2886A>G (p.Gly962=) c.1197A>G (p.Gly399=) | |
| 1 | g.99891344A>T | CA419314507 | AGL | c.2937A>T (p.Gly979=) n.3148A>T c.2889A>T (p.Gly963=) c.2886A>T (p.Gly962=) c.1197A>T (p.Gly399=) | |
| 1 | g.99891345A>C | CA341325379 | AGL | c.2938A>C (p.Thr980Pro) n.3149A>C c.2890A>C (p.Thr964Pro) c.2887A>C (p.Thr963Pro) c.1198A>C (p.Thr400Pro) | |
| 1 | g.99891345A>G | CA341325381 | AGL | c.2938A>G (p.Thr980Ala) n.3149A>G c.2890A>G (p.Thr964Ala) c.2887A>G (p.Thr963Ala) c.1198A>G (p.Thr400Ala) | |
| 1 | g.99891345A>T | CA341325384 | AGL | c.2938A>T (p.Thr980Ser) n.3149A>T c.2890A>T (p.Thr964Ser) c.2887A>T (p.Thr963Ser) c.1198A>T (p.Thr400Ser) | |
| 1 | g.99891346C>A | CA341325388 | AGL | c.2939C>A (p.Thr980Asn) n.3150C>A c.2891C>A (p.Thr964Asn) c.2888C>A (p.Thr963Asn) c.1199C>A (p.Thr400Asn) | |
| 1 | g.99891346C>G | CA341325392 | AGL | c.2939C>G (p.Thr980Ser) n.3150C>G c.2891C>G (p.Thr964Ser) c.2888C>G (p.Thr963Ser) c.1199C>G (p.Thr400Ser) | |
| 1 | g.99891346C>T | CA341325393 | AGL | c.2939C>T (p.Thr980Ile) n.3150C>T c.2891C>T (p.Thr964Ile) c.2888C>T (p.Thr963Ile) c.1199C>T (p.Thr400Ile) | |
| 1 | g.99891347T>A | CA419314508 | AGL | c.2940T>A (p.Thr980=) n.3151T>A c.2892T>A (p.Thr964=) c.2889T>A (p.Thr963=) c.1200T>A (p.Thr400=) | gnomAD v4 |
| 1 | g.99891347T>C | CA419314509 | AGL | c.2940T>C (p.Thr980=) n.3151T>C c.2892T>C (p.Thr964=) c.2889T>C (p.Thr963=) c.1200T>C (p.Thr400=) | |
| 1 | g.99891347T>G | CA419314510 | AGL | c.2940T>G (p.Thr980=) n.3151T>G c.2892T>G (p.Thr964=) c.2889T>G (p.Thr963=) c.1200T>G (p.Thr400=) | |
| 1 | g.99891348A= | CA1142273929 | AGL | c.2941A= (p.Ile981=) n.3152A= c.2893A= (p.Ile965=) c.2890A= (p.Ile964=) c.1201A= (p.Ile401=) | |
| 1 | g.99891348A>C | CA341325395 | AGL | c.2941A>C (p.Ile981Leu) n.3152A>C c.2893A>C (p.Ile965Leu) c.2890A>C (p.Ile964Leu) c.1201A>C (p.Ile401Leu) | |
| 1 | g.99891348A>G | CA966934 | AGL | c.2941A>G (p.Ile981Val) n.3152A>G c.2893A>G (p.Ile965Val) c.2890A>G (p.Ile964Val) c.1201A>G (p.Ile401Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99891348A>T | CA341325398 | AGL | c.2941A>T (p.Ile981Phe) n.3152A>T c.2893A>T (p.Ile965Phe) c.2890A>T (p.Ile964Phe) c.1201A>T (p.Ile401Phe) | dbSNP |
| 1 | g.99891349T>A | CA341325399 | AGL | c.2942T>A (p.Ile981Asn) n.3153T>A c.2894T>A (p.Ile965Asn) c.2891T>A (p.Ile964Asn) c.1202T>A (p.Ile401Asn) | |
| 1 | g.99891349T>C | CA27526484 | AGL | c.2942T>C (p.Ile981Thr) n.3153T>C c.2894T>C (p.Ile965Thr) c.2891T>C (p.Ile964Thr) c.1202T>C (p.Ile401Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99891349T>G | CA341325402 | AGL | c.2942T>G (p.Ile981Ser) n.3153T>G c.2894T>G (p.Ile965Ser) c.2891T>G (p.Ile964Ser) c.1202T>G (p.Ile401Ser) | |
| 1 | g.99891349T= | CA1141610775 | AGL | c.2942T= (p.Ile981=) n.3153T= c.2894T= (p.Ile965=) c.2891T= (p.Ile964=) c.1202T= (p.Ile401=) | |
| 1 | g.99891350T>A | CA419314511 | AGL | c.2943T>A (p.Ile981=) n.3154T>A c.2895T>A (p.Ile965=) c.2892T>A (p.Ile964=) c.1203T>A (p.Ile401=) | |
| 1 | g.99891350T>C | CA419314512 | AGL | c.2943T>C (p.Ile981=) n.3154T>C c.2895T>C (p.Ile965=) c.2892T>C (p.Ile964=) c.1203T>C (p.Ile401=) | |
| 1 | g.99891350T>G | CA341325405 | AGL | c.2943T>G (p.Ile981Met) n.3154T>G c.2895T>G (p.Ile965Met) c.2892T>G (p.Ile964Met) c.1203T>G (p.Ile401Met) | |
| 1 | g.99891351G>A | CA966935 | AGL | c.2944G>A (p.Ala982Thr) n.3155G>A c.2896G>A (p.Ala966Thr) c.2893G>A (p.Ala965Thr) c.1204G>A (p.Ala402Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891351G>C | CA341325409 | AGL | c.2944G>C (p.Ala982Pro) n.3155G>C c.2896G>C (p.Ala966Pro) c.2893G>C (p.Ala965Pro) c.1204G>C (p.Ala402Pro) | |
| 1 | g.99891351G= | CA1183933253 | AGL | c.2944G= (p.Ala982=) n.3155G= c.2896G= (p.Ala966=) c.2893G= (p.Ala965=) c.1204G= (p.Ala402=) | |
| 1 | g.99891351G>T | CA341325410 | AGL | c.2944G>T (p.Ala982Ser) n.3155G>T c.2896G>T (p.Ala966Ser) c.2893G>T (p.Ala965Ser) c.1204G>T (p.Ala402Ser) | |
| 1 | g.99891352C>A | CA341325413 | AGL | c.2945C>A (p.Ala982Asp) n.3156C>A c.2897C>A (p.Ala966Asp) c.2894C>A (p.Ala965Asp) c.1205C>A (p.Ala402Asp) |