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 |
|---|---|---|---|---|---|
| 18 | g.23532378_23536675del | CA913190465 | NPC1 | c.3243_3755-94del c.2321_2833-94del c.3294_3805+977del c.3294_3806-94del c.3243_3754+977del c.2829_3340+977del | ClinVar |
| 18 | g.23535595del | CA2290163901 | NPC1 | c.3353del (p.Gly1118AlafsTer?) c.108del n.108del c.2431del c.30del c.3404del (p.Gly1135AlafsTer?) c.2939del (p.Gly980AlafsTer?) | dbSNP |
| 18 | g.23535594C>A | CA401791391 | NPC1 | c.3352G>T (p.Gly1118Cys) c.107G>T n.107G>T c.2430G>T c.29G>T c.3403G>T (p.Gly1135Cys) c.2938G>T (p.Gly980Cys) | |
| 18 | g.23535594C= | CA2290163903 | NPC1 | c.3352G= (p.Gly1118=) c.107G= n.107G= c.2430G= c.29G= c.3403G= (p.Gly1135=) c.2938G= (p.Gly980=) | |
| 18 | g.23535594C>G | CA401791392 | NPC1 | c.3352G>C (p.Gly1118Arg) c.107G>C n.107G>C c.2430G>C c.29G>C c.3403G>C (p.Gly1135Arg) c.2938G>C (p.Gly980Arg) | |
| 18 | g.23535594C>T | CA401791393 | NPC1 | c.3352G>A (p.Gly1118Ser) c.107G>A n.107G>A c.2430G>A c.29G>A c.3403G>A (p.Gly1135Ser) c.2938G>A (p.Gly980Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.23535595C>A | CA503521716 | NPC1 | c.3351G>T (p.Leu1117=) c.106G>T n.106G>T c.2429G>T c.28G>T c.3402G>T (p.Leu1134=) c.2937G>T (p.Leu979=) | |
| 18 | g.23535595C>G | CA503521715 | NPC1 | c.3351G>C (p.Leu1117=) c.106G>C n.106G>C c.2429G>C c.28G>C c.3402G>C (p.Leu1134=) c.2937G>C (p.Leu979=) | |
| 18 | g.23535595C>T | CA503521714 | NPC1 | c.3351G>A (p.Leu1117=) c.106G>A n.106G>A c.2429G>A c.28G>A c.3402G>A (p.Leu1134=) c.2937G>A (p.Leu979=) | |
| 18 | g.23535596A= | CA2290163904 | NPC1 | c.3350T= (p.Leu1117=) c.105T= n.105T= c.2428T= c.27T= c.3401T= (p.Leu1134=) c.2936T= (p.Leu979=) | |
| 18 | g.23535596A>C | CA401791396 | NPC1 | c.3350T>G (p.Leu1117Arg) c.105T>G n.105T>G c.2428T>G c.27T>G c.3401T>G (p.Leu1134Arg) c.2936T>G (p.Leu979Arg) | |
| 18 | g.23535596A>G | CA401791394 | NPC1 | c.3350T>C (p.Leu1117Pro) c.105T>C n.105T>C c.2428T>C c.27T>C c.3401T>C (p.Leu1134Pro) c.2936T>C (p.Leu979Pro) | |
| 18 | g.23535596A>T | CA401791395 | NPC1 | c.3350T>A (p.Leu1117Gln) c.105T>A n.105T>A c.2428T>A c.27T>A c.3401T>A (p.Leu1134Gln) c.2936T>A (p.Leu979Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23535597G>A | CA503521717 | NPC1 | c.3349C>T (p.Leu1117=) c.104C>T n.104C>T c.2427C>T c.26C>T c.3400C>T (p.Leu1134=) c.2935C>T (p.Leu979=) | |
| 18 | g.23535597G>C | CA401791397 | NPC1 | c.3349C>G (p.Leu1117Val) c.104C>G n.104C>G c.2427C>G c.26C>G c.3400C>G (p.Leu1134Val) c.2935C>G (p.Leu979Val) | |
| 18 | g.23535597G>T | CA401791398 | NPC1 | c.3349C>A (p.Leu1117Met) c.104C>A n.104C>A c.2427C>A c.26C>A c.3400C>A (p.Leu1134Met) c.2935C>A (p.Leu979Met) | |
| 18 | g.23535598dup | CA2573054631 | NPC1 | c.3349dup (p.Leu1117ProfsTer4) c.104dup n.104dup c.2427dup c.26dup c.3400dup (p.Leu1134ProfsTer4) c.2935dup (p.Leu979ProfsTer4) | ClinVar dbSNP |
| 18 | g.23535598G>A | CA503521720 | NPC1 | c.3348C>T (p.Leu1116=) c.103C>T n.103C>T c.2426C>T c.25C>T c.3399C>T (p.Leu1133=) c.2934C>T (p.Leu978=) | COSMIC |
| 18 | g.23535598G>C | CA503521718 | NPC1 | c.3348C>G (p.Leu1116=) c.103C>G n.103C>G c.2426C>G c.25C>G c.3399C>G (p.Leu1133=) c.2934C>G (p.Leu978=) | |
| 18 | g.23535598G>T | CA503521719 | NPC1 | c.3348C>A (p.Leu1116=) c.103C>A n.103C>A c.2426C>A c.25C>A c.3399C>A (p.Leu1133=) c.2934C>A (p.Leu978=) | |
| 18 | g.23535599_23535600del | CA2695227423 | NPC1 | c.3347_3348del (p.Leu1116ProfsTer4) c.102_103del n.102_103del c.2425_2426del c.24_25del c.3398_3399del (p.Leu1133ProfsTer4) c.2933_2934del (p.Leu978ProfsTer4) | |
| 18 | g.23535599del | CA2580095543 | NPC1 | c.3347del (p.Leu1116ProfsTer?) c.102del n.102del c.2425del c.24del c.3398del (p.Leu1133ProfsTer?) c.2933del (p.Leu978ProfsTer?) | ClinVar |
| 18 | g.23535599A>C | CA401791399 | NPC1 | c.3347T>G (p.Leu1116Arg) c.102T>G n.102T>G c.2425T>G c.24T>G c.3398T>G (p.Leu1133Arg) c.2933T>G (p.Leu978Arg) | |
| 18 | g.23535599A>G | CA401791400 | NPC1 | c.3347T>C (p.Leu1116Pro) c.102T>C n.102T>C c.2425T>C c.24T>C c.3398T>C (p.Leu1133Pro) c.2933T>C (p.Leu978Pro) | |
| 18 | g.23535599A>T | CA401791401 | NPC1 | c.3347T>A (p.Leu1116His) c.102T>A n.102T>A c.2425T>A c.24T>A c.3398T>A (p.Leu1133His) c.2933T>A (p.Leu978His) | |
| 18 | g.23535600G>A | CA401791402 | NPC1 | c.3346C>T (p.Leu1116Phe) c.101C>T n.101C>T c.2424C>T c.23C>T c.3397C>T (p.Leu1133Phe) c.2932C>T (p.Leu978Phe) | |
| 18 | g.23535600G>C | CA401791403 | NPC1 | c.3346C>G (p.Leu1116Val) c.101C>G n.101C>G c.2424C>G c.23C>G c.3397C>G (p.Leu1133Val) c.2932C>G (p.Leu978Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23535600G= | CA2290163905 | NPC1 | c.3346C= (p.Leu1116=) c.101C= n.101C= c.2424C= c.23C= c.3397C= (p.Leu1133=) c.2932C= (p.Leu978=) | |
| 18 | g.23535600G>T | CA401791404 | NPC1 | c.3346C>A (p.Leu1116Ile) c.101C>A n.101C>A c.2424C>A c.23C>A c.3397C>A (p.Leu1133Ile) c.2932C>A (p.Leu978Ile) | |
| 18 | g.23535601G>A | CA503521721 | NPC1 | c.3345C>T (p.Val1115=) c.100C>T n.100C>T c.2423C>T c.22C>T c.3396C>T (p.Val1132=) c.2931C>T (p.Val977=) | dbSNP gnomAD v4 |
| 18 | g.23535601G>C | CA503521722 | NPC1 | c.3345C>G (p.Val1115=) c.100C>G n.100C>G c.2423C>G c.22C>G c.3396C>G (p.Val1132=) c.2931C>G (p.Val977=) | |
| 18 | g.23535601G= | CA2290163906 | NPC1 | c.3345C= (p.Val1115=) c.100C= n.100C= c.2423C= c.22C= c.3396C= (p.Val1132=) c.2931C= (p.Val977=) | |
| 18 | g.23535601G>T | CA503521723 | NPC1 | c.3345C>A (p.Val1115=) c.100C>A n.100C>A c.2423C>A c.22C>A c.3396C>A (p.Val1132=) c.2931C>A (p.Val977=) | |
| 18 | g.23535602A= | CA2290163907 | NPC1 | c.3344T= (p.Val1115=) c.99T= n.99T= c.2422T= c.21T= c.3395T= (p.Val1132=) c.2930T= (p.Val977=) | |
| 18 | g.23535602A>C | CA401791405 | NPC1 | c.3344T>G (p.Val1115Gly) c.99T>G n.99T>G c.2422T>G c.21T>G c.3395T>G (p.Val1132Gly) c.2930T>G (p.Val977Gly) | |
| 18 | g.23535602A>G | CA297079211 | NPC1 | c.3344T>C (p.Val1115Ala) c.99T>C n.99T>C c.2422T>C c.21T>C c.3395T>C (p.Val1132Ala) c.2930T>C (p.Val977Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23535602A>T | CA401791406 | NPC1 | c.3344T>A (p.Val1115Asp) c.99T>A n.99T>A c.2422T>A c.21T>A c.3395T>A (p.Val1132Asp) c.2930T>A (p.Val977Asp) | |
| 18 | g.23535603C>A | CA145964 | NPC1 | c.3343G>T (p.Val1115Phe) c.98G>T n.98G>T c.2421G>T c.20G>T c.3394G>T (p.Val1132Phe) c.2929G>T (p.Val977Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535603C= | CA2290163908 | NPC1 | c.3343G= (p.Val1115=) c.98G= n.98G= c.2421G= c.20G= c.3394G= (p.Val1132=) c.2929G= (p.Val977=) | |
| 18 | g.23535603C>G | CA401791407 | NPC1 | c.3343G>C (p.Val1115Leu) c.98G>C n.98G>C c.2421G>C c.20G>C c.3394G>C (p.Val1132Leu) c.2929G>C (p.Val977Leu) | |
| 18 | g.23535603C>T | CA8912793 | NPC1 | c.3343G>A (p.Val1115Ile) c.98G>A n.98G>A c.2421G>A c.20G>A c.3394G>A (p.Val1132Ile) c.2929G>A (p.Val977Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535604C>A | CA401791409 | NPC1 | c.3342G>T (p.Met1114Ile) c.97G>T n.97G>T c.2420G>T c.19G>T c.3393G>T (p.Met1131Ile) c.2928G>T (p.Met976Ile) | |
| 18 | g.23535604C= | CA2290163909 | NPC1 | c.3342G= (p.Met1114=) c.97G= n.97G= c.2420G= c.19G= c.3393G= (p.Met1131=) c.2928G= (p.Met976=) | |
| 18 | g.23535604C>G | CA401791408 | NPC1 | c.3342G>C (p.Met1114Ile) c.97G>C n.97G>C c.2420G>C c.19G>C c.3393G>C (p.Met1131Ile) c.2928G>C (p.Met976Ile) | |
| 18 | g.23535604C>T | CA8912794 | NPC1 | c.3342G>A (p.Met1114Ile) c.97G>A n.97G>A c.2420G>A c.19G>A c.3393G>A (p.Met1131Ile) c.2928G>A (p.Met976Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535605A>C | CA401791410 | NPC1 | c.3341T>G (p.Met1114Arg) c.96T>G n.96T>G c.2419T>G c.18T>G c.3392T>G (p.Met1131Arg) c.2927T>G (p.Met976Arg) | |
| 18 | g.23535605A>G | CA401791411 | NPC1 | c.3341T>C (p.Met1114Thr) c.96T>C n.96T>C c.2419T>C c.18T>C c.3392T>C (p.Met1131Thr) c.2927T>C (p.Met976Thr) | gnomAD v4 |
| 18 | g.23535605A>T | CA401791412 | NPC1 | c.3341T>A (p.Met1114Lys) c.96T>A n.96T>A c.2419T>A c.18T>A c.3392T>A (p.Met1131Lys) c.2927T>A (p.Met976Lys) | |
| 18 | g.23535606T>A | CA401791415 | NPC1 | c.3340A>T (p.Met1114Leu) c.95A>T n.95A>T c.2418A>T c.17A>T c.3391A>T (p.Met1131Leu) c.2926A>T (p.Met976Leu) | |
| 18 | g.23535606T>C | CA401791414 | NPC1 | c.3340A>G (p.Met1114Val) c.95A>G n.95A>G c.2418A>G c.17A>G c.3391A>G (p.Met1131Val) c.2926A>G (p.Met976Val) | ClinVar dbSNP gnomAD v4 |