WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23540506C>A | CA16043892 | NPC1 | c.2546G>T (p.Ser849Ile) n.2460G>T n.337G>T c.1624G>T c.2597G>T (p.Ser866Ile) c.2132G>T (p.Ser711Ile) | ClinVar dbSNP |
| 18 | g.23540506C= | CA2290166261 | NPC1 | c.2546G= (p.Ser849=) n.2460G= n.337G= c.1624G= c.2597G= (p.Ser866=) c.2132G= (p.Ser711=) | |
| 18 | g.23540506C>G | CA401793190 | NPC1 | c.2546G>C (p.Ser849Thr) n.2460G>C n.337G>C c.1624G>C c.2597G>C (p.Ser866Thr) c.2132G>C (p.Ser711Thr) | |
| 18 | g.23540506C>T | CA401793191 | NPC1 | c.2546G>A (p.Ser849Asn) n.2460G>A n.337G>A c.1624G>A c.2597G>A (p.Ser866Asn) c.2132G>A (p.Ser711Asn) | gnomAD v4 COSMIC COSMIC |
| 18 | g.23540507T>A | CA401793193 | NPC1 | c.2545A>T (p.Ser849Cys) n.2459A>T n.336A>T c.1623A>T c.2596A>T (p.Ser866Cys) c.2131A>T (p.Ser711Cys) | |
| 18 | g.23540507T>C | CA401793194 | NPC1 | c.2545A>G (p.Ser849Gly) n.2459A>G n.336A>G c.1623A>G c.2596A>G (p.Ser866Gly) c.2131A>G (p.Ser711Gly) | |
| 18 | g.23540507T>G | CA401793192 | NPC1 | c.2545A>C (p.Ser849Arg) n.2459A>C n.336A>C c.1623A>C c.2596A>C (p.Ser866Arg) c.2131A>C (p.Ser711Arg) | |
| 18 | g.23540508G>A | CA503322803 | NPC1 | c.2544C>T (p.Phe848=) n.2458C>T n.335C>T c.1622C>T c.2595C>T (p.Phe865=) c.2130C>T (p.Phe710=) | |
| 18 | g.23540508G>C | CA401793196 | NPC1 | c.2544C>G (p.Phe848Leu) n.2458C>G n.335C>G c.1622C>G c.2595C>G (p.Phe865Leu) c.2130C>G (p.Phe710Leu) | |
| 18 | g.23540508G>T | CA401793195 | NPC1 | c.2544C>A (p.Phe848Leu) n.2458C>A n.335C>A c.1622C>A c.2595C>A (p.Phe865Leu) c.2130C>A (p.Phe710Leu) | |
| 18 | g.23540509A>C | CA401793199 | NPC1 | c.2543T>G (p.Phe848Cys) n.2457T>G n.334T>G c.1621T>G c.2594T>G (p.Phe865Cys) c.2129T>G (p.Phe710Cys) | |
| 18 | g.23540509A>G | CA401793197 | NPC1 | c.2543T>C (p.Phe848Ser) n.2457T>C n.334T>C c.1621T>C c.2594T>C (p.Phe865Ser) c.2129T>C (p.Phe710Ser) | |
| 18 | g.23540509A>T | CA401793198 | NPC1 | c.2543T>A (p.Phe848Tyr) n.2457T>A n.334T>A c.1621T>A c.2594T>A (p.Phe865Tyr) c.2129T>A (p.Phe710Tyr) | |
| 18 | g.23540510A>C | CA401793200 | NPC1 | c.2542T>G (p.Phe848Val) n.2456T>G n.333T>G c.1620T>G c.2593T>G (p.Phe865Val) c.2128T>G (p.Phe710Val) | |
| 18 | g.23540510A>G | CA401793201 | NPC1 | c.2542T>C (p.Phe848Leu) n.2456T>C n.333T>C c.1620T>C c.2593T>C (p.Phe865Leu) c.2128T>C (p.Phe710Leu) | gnomAD v4 |
| 18 | g.23540510A>T | CA401793202 | NPC1 | c.2542T>A (p.Phe848Ile) n.2456T>A n.333T>A c.1620T>A c.2593T>A (p.Phe865Ile) c.2128T>A (p.Phe710Ile) | |
| 18 | g.23540511T>A | CA503322804 | NPC1 | c.2541A>T (p.Ser847=) n.2455A>T n.332A>T c.1619A>T c.2592A>T (p.Ser864=) c.2127A>T (p.Ser709=) | |
| 18 | g.23540511T>C | CA503322805 | NPC1 | c.2541A>G (p.Ser847=) n.2455A>G n.332A>G c.1619A>G c.2592A>G (p.Ser864=) c.2127A>G (p.Ser709=) | |
| 18 | g.23540511T>G | CA503322806 | NPC1 | c.2541A>C (p.Ser847=) n.2455A>C n.332A>C c.1619A>C c.2592A>C (p.Ser864=) c.2127A>C (p.Ser709=) | |
| 18 | g.23540512G>A | CA401793203 | NPC1 | c.2540C>T (p.Ser847Leu) n.2454C>T n.331C>T c.1618C>T c.2591C>T (p.Ser864Leu) c.2126C>T (p.Ser709Leu) | dbSNP gnomAD v4 |
| 18 | g.23540512G>C | CA401793204 | NPC1 | c.2540C>G (p.Ser847Ter) n.2454C>G n.331C>G c.1618C>G c.2591C>G (p.Ser864Ter) c.2126C>G (p.Ser709Ter) | |
| 18 | g.23540512G>T | CA401793205 | NPC1 | c.2540C>A (p.Ser847Ter) n.2454C>A n.331C>A c.1618C>A c.2591C>A (p.Ser864Ter) c.2126C>A (p.Ser709Ter) | gnomAD v4 |
| 18 | g.23540513A>C | CA401793206 | NPC1 | c.2539T>G (p.Ser847Ala) n.2453T>G n.330T>G c.1617T>G c.2590T>G (p.Ser864Ala) c.2125T>G (p.Ser709Ala) | |
| 18 | g.23540513A>G | CA401793207 | NPC1 | c.2539T>C (p.Ser847Pro) n.2453T>C n.330T>C c.1617T>C c.2590T>C (p.Ser864Pro) c.2125T>C (p.Ser709Pro) | gnomAD v4 |
| 18 | g.23540513A>T | CA401793208 | NPC1 | c.2539T>A (p.Ser847Thr) n.2453T>A n.330T>A c.1617T>A c.2590T>A (p.Ser864Thr) c.2125T>A (p.Ser709Thr) | |
| 18 | g.23540514C>A | CA503322807 | NPC1 | c.2538G>T (p.Leu846=) n.2452G>T n.329G>T c.1616G>T c.2589G>T (p.Leu863=) c.2124G>T (p.Leu708=) | |
| 18 | g.23540514C>G | CA503322808 | NPC1 | c.2538G>C (p.Leu846=) n.2452G>C n.329G>C c.1616G>C c.2589G>C (p.Leu863=) c.2124G>C (p.Leu708=) | |
| 18 | g.23540514C>T | CA503322809 | NPC1 | c.2538G>A (p.Leu846=) n.2452G>A n.329G>A c.1616G>A c.2589G>A (p.Leu863=) c.2124G>A (p.Leu708=) | |
| 18 | g.23540515A>C | CA401793211 | NPC1 | c.2537T>G (p.Leu846Arg) n.2451T>G n.328T>G c.1615T>G c.2588T>G (p.Leu863Arg) c.2123T>G (p.Leu708Arg) | |
| 18 | g.23540515A>G | CA401793210 | NPC1 | c.2537T>C (p.Leu846Pro) n.2451T>C n.328T>C c.1615T>C c.2588T>C (p.Leu863Pro) c.2123T>C (p.Leu708Pro) | gnomAD v4 |
| 18 | g.23540515A>T | CA401793209 | NPC1 | c.2537T>A (p.Leu846Gln) n.2451T>A n.328T>A c.1615T>A c.2588T>A (p.Leu863Gln) c.2123T>A (p.Leu708Gln) | |
| 18 | g.23540516_23540517del | CA2580095541 | NPC1 | c.2536_2537del (p.Leu846ValfsTer23) n.2450_2451del n.327_328del c.1614_1615del c.2587_2588del (p.Leu863ValfsTer23) c.2122_2123del (p.Leu708ValfsTer23) | ClinVar |
| 18 | g.23540516G>A | CA503322810 | NPC1 | c.2536C>T (p.Leu846=) n.2450C>T n.327C>T c.1614C>T c.2587C>T (p.Leu863=) c.2122C>T (p.Leu708=) | |
| 18 | g.23540516G>C | CA8913056 | NPC1 | c.2536C>G (p.Leu846Val) n.2450C>G n.327C>G c.1614C>G c.2587C>G (p.Leu863Val) c.2122C>G (p.Leu708Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23540516G= | CA2290166262 | NPC1 | c.2536C= (p.Leu846=) n.2450C= n.327C= c.1614C= c.2587C= (p.Leu863=) c.2122C= (p.Leu708=) | |
| 18 | g.23540516G>T | CA401793212 | NPC1 | c.2536C>A (p.Leu846Met) n.2450C>A n.327C>A c.1614C>A c.2587C>A (p.Leu863Met) c.2122C>A (p.Leu708Met) | gnomAD v4 |
| 18 | g.23540517A= | CA2290166263 | NPC1 | c.2535T= (p.Val845=) n.2449T= n.326T= c.1613T= c.2586T= (p.Val862=) c.2121T= (p.Val707=) | |
| 18 | g.23540517A>C | CA503322811 | NPC1 | c.2535T>G (p.Val845=) n.2449T>G n.326T>G c.1613T>G c.2586T>G (p.Val862=) c.2121T>G (p.Val707=) | ClinVar dbSNP |
| 18 | g.23540517A>G | CA503322812 | NPC1 | c.2535T>C (p.Val845=) n.2449T>C n.326T>C c.1613T>C c.2586T>C (p.Val862=) c.2121T>C (p.Val707=) | |
| 18 | g.23540517A>T | CA503322813 | NPC1 | c.2535T>A (p.Val845=) n.2449T>A n.326T>A c.1613T>A c.2586T>A (p.Val862=) c.2121T>A (p.Val707=) | |
| 18 | g.23540518A>C | CA401793213 | NPC1 | c.2534T>G (p.Val845Gly) n.2448T>G n.325T>G c.1612T>G c.2585T>G (p.Val862Gly) c.2120T>G (p.Val707Gly) | |
| 18 | g.23540518A>G | CA401793214 | NPC1 | c.2534T>C (p.Val845Ala) n.2448T>C n.325T>C c.1612T>C c.2585T>C (p.Val862Ala) c.2120T>C (p.Val707Ala) | |
| 18 | g.23540518A>T | CA401793215 | NPC1 | c.2534T>A (p.Val845Asp) n.2448T>A n.325T>A c.1612T>A c.2585T>A (p.Val862Asp) c.2120T>A (p.Val707Asp) | |
| 18 | g.23540519C>A | CA8913057 | NPC1 | c.2533G>T (p.Val845Phe) n.2447G>T n.324G>T c.1611G>T c.2584G>T (p.Val862Phe) c.2119G>T (p.Val707Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23540519C= | CA2290166264 | NPC1 | c.2533G= (p.Val845=) n.2447G= n.324G= c.1611G= c.2584G= (p.Val862=) c.2119G= (p.Val707=) | |
| 18 | g.23540519C>G | CA401793216 | NPC1 | c.2533G>C (p.Val845Leu) n.2447G>C n.324G>C c.1611G>C c.2584G>C (p.Val862Leu) c.2119G>C (p.Val707Leu) | |
| 18 | g.23540519C>T | CA401793217 | NPC1 | c.2533G>A (p.Val845Ile) n.2447G>A n.324G>A c.1611G>A c.2584G>A (p.Val862Ile) c.2119G>A (p.Val707Ile) | |
| 18 | g.23540520A= | CA2290166265 | NPC1 | c.2532T= (p.Gly844=) n.2446T= n.323T= c.1610T= c.2583T= (p.Gly861=) c.2118T= (p.Gly706=) | |
| 18 | g.23540520A>C | CA503322815 | NPC1 | c.2532T>G (p.Gly844=) n.2446T>G n.323T>G c.1610T>G c.2583T>G (p.Gly861=) c.2118T>G (p.Gly706=) | |
| 18 | g.23540520A>G | CA8913058 | NPC1 | c.2532T>C (p.Gly844=) n.2446T>C n.323T>C c.1610T>C c.2583T>C (p.Gly861=) c.2118T>C (p.Gly706=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |