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.23535488G>A | CA401791154 | NPC1 | c.3458C>T (p.Ser1153Phe) c.213C>T n.213C>T c.2536C>T c.135C>T c.3509C>T (p.Ser1170Phe) c.3044C>T (p.Ser1015Phe) | |
| 18 | g.23535488G>C | CA401791155 | NPC1 | c.3458C>G (p.Ser1153Cys) c.213C>G n.213C>G c.2536C>G c.135C>G c.3509C>G (p.Ser1170Cys) c.3044C>G (p.Ser1015Cys) | |
| 18 | g.23535488G>T | CA401791156 | NPC1 | c.3458C>A (p.Ser1153Tyr) c.213C>A n.213C>A c.2536C>A c.135C>A c.3509C>A (p.Ser1170Tyr) c.3044C>A (p.Ser1015Tyr) | |
| 18 | g.23535488_23535489dup | CA628978705 | NPC1 | c.3457_3458dup (p.Leu1154ProfsTer6) c.212_213dup n.212_213dup c.2535_2536dup c.134_135dup c.3508_3509dup (p.Leu1171ProfsTer6) c.3043_3044dup (p.Leu1016ProfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23535489A>C | CA401791157 | NPC1 | c.3457T>G (p.Ser1153Ala) c.212T>G n.212T>G c.2535T>G c.134T>G c.3508T>G (p.Ser1170Ala) c.3043T>G (p.Ser1015Ala) | |
| 18 | g.23535489A>G | CA401791158 | NPC1 | c.3457T>C (p.Ser1153Pro) c.212T>C n.212T>C c.2535T>C c.134T>C c.3508T>C (p.Ser1170Pro) c.3043T>C (p.Ser1015Pro) | |
| 18 | g.23535489A>T | CA401791159 | NPC1 | c.3457T>A (p.Ser1153Thr) c.212T>A n.212T>A c.2535T>A c.134T>A c.3508T>A (p.Ser1170Thr) c.3043T>A (p.Ser1015Thr) | |
| 18 | g.23535490T>A | CA503521657 | NPC1 | c.3456A>T (p.Val1152=) c.211A>T n.211A>T c.2534A>T c.133A>T c.3507A>T (p.Val1169=) c.3042A>T (p.Val1014=) | |
| 18 | g.23535490T>C | CA503521659 | NPC1 | c.3456A>G (p.Val1152=) c.211A>G n.211A>G c.2534A>G c.133A>G c.3507A>G (p.Val1169=) c.3042A>G (p.Val1014=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23535490T>G | CA503521658 | NPC1 | c.3456A>C (p.Val1152=) c.211A>C n.211A>C c.2534A>C c.133A>C c.3507A>C (p.Val1169=) c.3042A>C (p.Val1014=) | |
| 18 | g.23535490T= | CA2290163853 | NPC1 | c.3456A= (p.Val1152=) c.211A= n.211A= c.2534A= c.133A= c.3507A= (p.Val1169=) c.3042A= (p.Val1014=) | |
| 18 | g.23535491A>C | CA401791162 | NPC1 | c.3455T>G (p.Val1152Gly) c.210T>G n.210T>G c.2533T>G c.132T>G c.3506T>G (p.Val1169Gly) c.3041T>G (p.Val1014Gly) | |
| 18 | g.23535491A>G | CA401791161 | NPC1 | c.3455T>C (p.Val1152Ala) c.210T>C n.210T>C c.2533T>C c.132T>C c.3506T>C (p.Val1169Ala) c.3041T>C (p.Val1014Ala) | gnomAD v4 |
| 18 | g.23535491A>T | CA401791160 | NPC1 | c.3455T>A (p.Val1152Glu) c.210T>A n.210T>A c.2533T>A c.132T>A c.3506T>A (p.Val1169Glu) c.3041T>A (p.Val1014Glu) | |
| 18 | g.23535492C>A | CA401791163 | NPC1 | c.3454G>T (p.Val1152Leu) c.209G>T n.209G>T c.2532G>T c.131G>T c.3505G>T (p.Val1169Leu) c.3040G>T (p.Val1014Leu) | |
| 18 | g.23535492C= | CA2290163854 | NPC1 | c.3454G= (p.Val1152=) c.209G= n.209G= c.2532G= c.131G= c.3505G= (p.Val1169=) c.3040G= (p.Val1014=) | |
| 18 | g.23535492C>G | CA401791164 | NPC1 | c.3454G>C (p.Val1152Leu) c.209G>C n.209G>C c.2532G>C c.131G>C c.3505G>C (p.Val1169Leu) c.3040G>C (p.Val1014Leu) | |
| 18 | g.23535492C>T | CA401791165 | NPC1 | c.3454G>A (p.Val1152Ile) c.209G>A n.209G>A c.2532G>A c.131G>A c.3505G>A (p.Val1169Ile) c.3040G>A (p.Val1014Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535493A>C | CA503521660 | NPC1 | c.3453T>G (p.Ala1151=) c.208T>G n.208T>G c.2531T>G c.130T>G c.3504T>G (p.Ala1168=) c.3039T>G (p.Ala1013=) | |
| 18 | g.23535493A>G | CA503521661 | NPC1 | c.3453T>C (p.Ala1151=) c.208T>C n.208T>C c.2531T>C c.130T>C c.3504T>C (p.Ala1168=) c.3039T>C (p.Ala1013=) | gnomAD v4 |
| 18 | g.23535493A>T | CA503521662 | NPC1 | c.3453T>A (p.Ala1151=) c.208T>A n.208T>A c.2531T>A c.130T>A c.3504T>A (p.Ala1168=) c.3039T>A (p.Ala1013=) | ClinVar gnomAD v4 |
| 18 | g.23535494G>A | CA401791166 | NPC1 | c.3452C>T (p.Ala1151Val) c.207C>T n.207C>T c.2530C>T c.129C>T c.3503C>T (p.Ala1168Val) c.3038C>T (p.Ala1013Val) | |
| 18 | g.23535494G>C | CA401791167 | NPC1 | c.3452C>G (p.Ala1151Gly) c.207C>G n.207C>G c.2530C>G c.129C>G c.3503C>G (p.Ala1168Gly) c.3038C>G (p.Ala1013Gly) | |
| 18 | g.23535494G>T | CA401791168 | NPC1 | c.3452C>A (p.Ala1151Asp) c.207C>A n.207C>A c.2530C>A c.129C>A c.3503C>A (p.Ala1168Asp) c.3038C>A (p.Ala1013Asp) | |
| 18 | g.23535495C>A | CA401791169 | NPC1 | c.3451G>T (p.Ala1151Ser) c.206G>T n.206G>T c.2529G>T c.128G>T c.3502G>T (p.Ala1168Ser) c.3037G>T (p.Ala1013Ser) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23535495C= | CA2290163855 | NPC1 | c.3451G= (p.Ala1151=) c.206G= n.206G= c.2529G= c.128G= c.3502G= (p.Ala1168=) c.3037G= (p.Ala1013=) | |
| 18 | g.23535495C>G | CA401791170 | NPC1 | c.3451G>C (p.Ala1151Pro) c.206G>C n.206G>C c.2529G>C c.128G>C c.3502G>C (p.Ala1168Pro) c.3037G>C (p.Ala1013Pro) | |
| 18 | g.23535495C>T | CA8912773 | NPC1 | c.3451G>A (p.Ala1151Thr) c.206G>A n.206G>A c.2529G>A c.128G>A c.3502G>A (p.Ala1168Thr) c.3037G>A (p.Ala1013Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.23535496G>A | CA8912774 | NPC1 | c.3450C>T (p.Asn1150=) c.205C>T n.205C>T c.2528C>T c.127C>T c.3501C>T (p.Asn1167=) c.3036C>T (p.Asn1012=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535496G>C | CA401791171 | NPC1 | c.3450C>G (p.Asn1150Lys) c.205C>G n.205C>G c.2528C>G c.127C>G c.3501C>G (p.Asn1167Lys) c.3036C>G (p.Asn1012Lys) | |
| 18 | g.23535496G= | CA2290163856 | NPC1 | c.3450C= (p.Asn1150=) c.205C= n.205C= c.2528C= c.127C= c.3501C= (p.Asn1167=) c.3036C= (p.Asn1012=) | |
| 18 | g.23535496G>T | CA297079142 | NPC1 | c.3450C>A (p.Asn1150Lys) c.205C>A n.205C>A c.2528C>A c.127C>A c.3501C>A (p.Asn1167Lys) c.3036C>A (p.Asn1012Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535497T>A | CA401791174 | NPC1 | c.3449A>T (p.Asn1150Ile) c.204A>T n.204A>T c.2527A>T c.126A>T c.3500A>T (p.Asn1167Ile) c.3035A>T (p.Asn1012Ile) | |
| 18 | g.23535497T>C | CA401791173 | NPC1 | c.3449A>G (p.Asn1150Ser) c.204A>G n.204A>G c.2527A>G c.126A>G c.3500A>G (p.Asn1167Ser) c.3035A>G (p.Asn1012Ser) | |
| 18 | g.23535497T>G | CA401791172 | NPC1 | c.3449A>C (p.Asn1150Thr) c.204A>C n.204A>C c.2527A>C c.126A>C c.3500A>C (p.Asn1167Thr) c.3035A>C (p.Asn1012Thr) | |
| 18 | g.23535498T>A | CA401791177 | NPC1 | c.3448A>T (p.Asn1150Tyr) c.203A>T n.203A>T c.2526A>T c.125A>T c.3499A>T (p.Asn1167Tyr) c.3034A>T (p.Asn1012Tyr) | |
| 18 | g.23535498T>C | CA401791175 | NPC1 | c.3448A>G (p.Asn1150Asp) c.203A>G n.203A>G c.2526A>G c.125A>G c.3499A>G (p.Asn1167Asp) c.3034A>G (p.Asn1012Asp) | |
| 18 | g.23535498T>G | CA401791176 | NPC1 | c.3448A>C (p.Asn1150His) c.203A>C n.203A>C c.2526A>C c.125A>C c.3499A>C (p.Asn1167His) c.3034A>C (p.Asn1012His) | |
| 18 | g.23535499C>A | CA503521663 | NPC1 | c.3447G>T (p.Leu1149=) c.202G>T n.202G>T c.2525G>T c.124G>T c.3498G>T (p.Leu1166=) c.3033G>T (p.Leu1011=) | |
| 18 | g.23535499C= | CA2290163857 | NPC1 | c.3447G= (p.Leu1149=) c.202G= n.202G= c.2525G= c.124G= c.3498G= (p.Leu1166=) c.3033G= (p.Leu1011=) | |
| 18 | g.23535499C>G | CA503521664 | NPC1 | c.3447G>C (p.Leu1149=) c.202G>C n.202G>C c.2525G>C c.124G>C c.3498G>C (p.Leu1166=) c.3033G>C (p.Leu1011=) | |
| 18 | g.23535499C>T | CA8912775 | NPC1 | c.3447G>A (p.Leu1149=) c.202G>A n.202G>A c.2525G>A c.124G>A c.3498G>A (p.Leu1166=) c.3033G>A (p.Leu1011=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535500A>C | CA401791178 | NPC1 | c.3446T>G (p.Leu1149Arg) c.201T>G n.201T>G c.2524T>G c.123T>G c.3497T>G (p.Leu1166Arg) c.3032T>G (p.Leu1011Arg) | |
| 18 | g.23535500A>G | CA401791179 | NPC1 | c.3446T>C (p.Leu1149Pro) c.201T>C n.201T>C c.2524T>C c.123T>C c.3497T>C (p.Leu1166Pro) c.3032T>C (p.Leu1011Pro) | |
| 18 | g.23535500A>T | CA401791180 | NPC1 | c.3446T>A (p.Leu1149Gln) c.201T>A n.201T>A c.2524T>A c.123T>A c.3497T>A (p.Leu1166Gln) c.3032T>A (p.Leu1011Gln) | |
| 18 | g.23535501G>A | CA503521665 | NPC1 | c.3445C>T (p.Leu1149=) c.200C>T n.200C>T c.2523C>T c.122C>T c.3496C>T (p.Leu1166=) c.3031C>T (p.Leu1011=) | ClinVar |
| 18 | g.23535501G>C | CA401791181 | NPC1 | c.3445C>G (p.Leu1149Val) c.200C>G n.200C>G c.2523C>G c.122C>G c.3496C>G (p.Leu1166Val) c.3031C>G (p.Leu1011Val) | |
| 18 | g.23535501G>T | CA401791182 | NPC1 | c.3445C>A (p.Leu1149Met) c.200C>A n.200C>A c.2523C>A c.122C>A c.3496C>A (p.Leu1166Met) c.3031C>A (p.Leu1011Met) | |
| 18 | g.23535502A= | CA2290163858 | NPC1 | c.3444T= (p.Ser1148=) c.199T= n.199T= c.2522T= c.121T= c.3495T= (p.Ser1165=) c.3030T= (p.Ser1010=) |