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 |
|---|---|---|---|---|---|
| 4 | g.15984280A>C | CA356426909 | PROM1 | c.2356T>G (p.Tyr786Asp) c.*2039T>G (n.*2039T>G) c.2329T>G (p.Tyr777Asp) c.24T>G c.107T>G c.2122T>G (p.Tyr708Asp) c.2263T>G (p.Tyr755Asp) c.2149T>G (p.Tyr717Asp) c.2083T>G (p.Tyr695Asp) | |
| 4 | g.15984280A>G | CA356426910 | PROM1 | c.2356T>C (p.Tyr786His) c.*2039T>C (n.*2039T>C) c.2329T>C (p.Tyr777His) c.24T>C c.107T>C c.2122T>C (p.Tyr708His) c.2263T>C (p.Tyr755His) c.2149T>C (p.Tyr717His) c.2083T>C (p.Tyr695His) | |
| 4 | g.15984280A>T | CA356426911 | PROM1 | c.2356T>A (p.Tyr786Asn) c.*2039T>A (n.*2039T>A) c.2329T>A (p.Tyr777Asn) c.24T>A c.107T>A c.2122T>A (p.Tyr708Asn) c.2263T>A (p.Tyr755Asn) c.2149T>A (p.Tyr717Asn) c.2083T>A (p.Tyr695Asn) | |
| 4 | g.15984281G>A | CA438381410 | PROM1 | c.2355C>T (p.Ser785=) c.*2038C>T (n.*2038C>T) c.2328C>T (p.Ser776=) c.23C>T c.106C>T c.2121C>T (p.Ser707=) c.2262C>T (p.Ser754=) c.2148C>T (p.Ser716=) c.2082C>T (p.Ser694=) | |
| 4 | g.15984281G>C | CA356426912 | PROM1 | c.2355C>G (p.Ser785Arg) c.*2038C>G (n.*2038C>G) c.2328C>G (p.Ser776Arg) c.23C>G c.106C>G c.2121C>G (p.Ser707Arg) c.2262C>G (p.Ser754Arg) c.2148C>G (p.Ser716Arg) c.2082C>G (p.Ser694Arg) | |
| 4 | g.15984281G>T | CA356426913 | PROM1 | c.2355C>A (p.Ser785Arg) c.*2038C>A (n.*2038C>A) c.2328C>A (p.Ser776Arg) c.23C>A c.106C>A c.2121C>A (p.Ser707Arg) c.2262C>A (p.Ser754Arg) c.2148C>A (p.Ser716Arg) c.2082C>A (p.Ser694Arg) | gnomAD v4 |
| 4 | g.15984282C>A | CA356426914 | PROM1 | c.2354G>T (p.Ser785Ile) c.*2037G>T (n.*2037G>T) c.2327G>T (p.Ser776Ile) c.22G>T c.105G>T c.2120G>T (p.Ser707Ile) c.2261G>T (p.Ser754Ile) c.2147G>T (p.Ser716Ile) c.2081G>T (p.Ser694Ile) | gnomAD v4 |
| 4 | g.15984282C>G | CA356426915 | PROM1 | c.2354G>C (p.Ser785Thr) c.*2037G>C (n.*2037G>C) c.2327G>C (p.Ser776Thr) c.22G>C c.105G>C c.2120G>C (p.Ser707Thr) c.2261G>C (p.Ser754Thr) c.2147G>C (p.Ser716Thr) c.2081G>C (p.Ser694Thr) | |
| 4 | g.15984282C>T | CA356426916 | PROM1 | c.2354G>A (p.Ser785Asn) c.*2037G>A (n.*2037G>A) c.2327G>A (p.Ser776Asn) c.22G>A c.105G>A c.2120G>A (p.Ser707Asn) c.2261G>A (p.Ser754Asn) c.2147G>A (p.Ser716Asn) c.2081G>A (p.Ser694Asn) | |
| 4 | g.15984283T>A | CA356426919 | PROM1 | c.2353A>T (p.Ser785Cys) c.*2036A>T (n.*2036A>T) c.2326A>T (p.Ser776Cys) c.21A>T c.104A>T c.2119A>T (p.Ser707Cys) c.2260A>T (p.Ser754Cys) c.2146A>T (p.Ser716Cys) c.2080A>T (p.Ser694Cys) | |
| 4 | g.15984283T>C | CA356426918 | PROM1 | c.2353A>G (p.Ser785Gly) c.*2036A>G (n.*2036A>G) c.2326A>G (p.Ser776Gly) c.21A>G c.104A>G c.2119A>G (p.Ser707Gly) c.2260A>G (p.Ser754Gly) c.2146A>G (p.Ser716Gly) c.2080A>G (p.Ser694Gly) | |
| 4 | g.15984283T>G | CA356426917 | PROM1 | c.2353A>C (p.Ser785Arg) c.*2036A>C (n.*2036A>C) c.2326A>C (p.Ser776Arg) c.21A>C c.104A>C c.2119A>C (p.Ser707Arg) c.2260A>C (p.Ser754Arg) c.2146A>C (p.Ser716Arg) c.2080A>C (p.Ser694Arg) | |
| 4 | g.15984284A>C | CA356426920 | PROM1 | c.2352T>G (p.Cys784Trp) c.*2035T>G (n.*2035T>G) c.2325T>G (p.Cys775Trp) c.20T>G c.103T>G c.2118T>G (p.Cys706Trp) c.2259T>G (p.Cys753Trp) c.2145T>G (p.Cys715Trp) c.2079T>G (p.Cys693Trp) | |
| 4 | g.15984284A>G | CA438381412 | PROM1 | c.2352T>C (p.Cys784=) c.*2035T>C (n.*2035T>C) c.2325T>C (p.Cys775=) c.20T>C c.103T>C c.2118T>C (p.Cys706=) c.2259T>C (p.Cys753=) c.2145T>C (p.Cys715=) c.2079T>C (p.Cys693=) | gnomAD v4 |
| 4 | g.15984284A>T | CA356426921 | PROM1 | c.2352T>A (p.Cys784Ter) c.*2035T>A (n.*2035T>A) c.2325T>A (p.Cys775Ter) c.20T>A c.103T>A c.2118T>A (p.Cys706Ter) c.2259T>A (p.Cys753Ter) c.2145T>A (p.Cys715Ter) c.2079T>A (p.Cys693Ter) | |
| 4 | g.15984285C>A | CA356426922 | PROM1 | c.2351G>T (p.Cys784Phe) c.*2034G>T (n.*2034G>T) c.2324G>T (p.Cys775Phe) c.19G>T c.102G>T c.2117G>T (p.Cys706Phe) c.2258G>T (p.Cys753Phe) c.2144G>T (p.Cys715Phe) c.2078G>T (p.Cys693Phe) | gnomAD v4 |
| 4 | g.15984285C>G | CA356426924 | PROM1 | c.2351G>C (p.Cys784Ser) c.*2034G>C (n.*2034G>C) c.2324G>C (p.Cys775Ser) c.19G>C c.102G>C c.2117G>C (p.Cys706Ser) c.2258G>C (p.Cys753Ser) c.2144G>C (p.Cys715Ser) c.2078G>C (p.Cys693Ser) | |
| 4 | g.15984285C>T | CA356426923 | PROM1 | c.2351G>A (p.Cys784Tyr) c.*2034G>A (n.*2034G>A) c.2324G>A (p.Cys775Tyr) c.19G>A c.102G>A c.2117G>A (p.Cys706Tyr) c.2258G>A (p.Cys753Tyr) c.2144G>A (p.Cys715Tyr) c.2078G>A (p.Cys693Tyr) | ClinVar |
| 4 | g.15984286A>C | CA356426925 | PROM1 | c.2350T>G (p.Cys784Gly) c.*2033T>G (n.*2033T>G) c.2323T>G (p.Cys775Gly) c.18T>G c.101T>G c.2116T>G (p.Cys706Gly) c.2257T>G (p.Cys753Gly) c.2143T>G (p.Cys715Gly) c.2077T>G (p.Cys693Gly) | |
| 4 | g.15984286A>G | CA356426926 | PROM1 | c.2350T>C (p.Cys784Arg) c.*2033T>C (n.*2033T>C) c.2323T>C (p.Cys775Arg) c.18T>C c.101T>C c.2116T>C (p.Cys706Arg) c.2257T>C (p.Cys753Arg) c.2143T>C (p.Cys715Arg) c.2077T>C (p.Cys693Arg) | |
| 4 | g.15984286A>T | CA356426927 | PROM1 | c.2350T>A (p.Cys784Ser) c.*2033T>A (n.*2033T>A) c.2323T>A (p.Cys775Ser) c.18T>A c.101T>A c.2116T>A (p.Cys706Ser) c.2257T>A (p.Cys753Ser) c.2143T>A (p.Cys715Ser) c.2077T>A (p.Cys693Ser) | |
| 4 | g.15984287C>A | CA438381415 | PROM1 | c.2349G>T (p.Leu783=) c.*2032G>T (n.*2032G>T) c.2322G>T (p.Leu774=) c.17G>T c.100G>T c.2115G>T (p.Leu705=) c.2256G>T (p.Leu752=) c.2142G>T (p.Leu714=) c.2076G>T (p.Leu692=) | |
| 4 | g.15984287C= | CA1440892944 | PROM1 | c.2349G= (p.Leu783=) c.*2032G= (n.*2032G=) c.2322G= (p.Leu774=) c.17G= c.100G= c.2115G= (p.Leu705=) c.2256G= (p.Leu752=) c.2142G= (p.Leu714=) c.2076G= (p.Leu692=) | |
| 4 | g.15984287C>G | CA438381416 | PROM1 | c.2349G>C (p.Leu783=) c.*2032G>C (n.*2032G>C) c.2322G>C (p.Leu774=) c.17G>C c.100G>C c.2115G>C (p.Leu705=) c.2256G>C (p.Leu752=) c.2142G>C (p.Leu714=) c.2076G>C (p.Leu692=) | |
| 4 | g.15984287C>T | CA438381417 | PROM1 | c.2349G>A (p.Leu783=) c.*2032G>A (n.*2032G>A) c.2322G>A (p.Leu774=) c.17G>A c.100G>A c.2115G>A (p.Leu705=) c.2256G>A (p.Leu752=) c.2142G>A (p.Leu714=) c.2076G>A (p.Leu692=) | dbSNP gnomAD v4 |
| 4 | g.15984288A>C | CA356426928 | PROM1 | c.2348T>G (p.Leu783Arg) c.*2031T>G (n.*2031T>G) c.2321T>G (p.Leu774Arg) c.16T>G c.99T>G c.2114T>G (p.Leu705Arg) c.2255T>G (p.Leu752Arg) c.2141T>G (p.Leu714Arg) c.2075T>G (p.Leu692Arg) | |
| 4 | g.15984288A>G | CA356426929 | PROM1 | c.2348T>C (p.Leu783Pro) c.*2031T>C (n.*2031T>C) c.2321T>C (p.Leu774Pro) c.16T>C c.99T>C c.2114T>C (p.Leu705Pro) c.2255T>C (p.Leu752Pro) c.2141T>C (p.Leu714Pro) c.2075T>C (p.Leu692Pro) | |
| 4 | g.15984288A>T | CA356426930 | PROM1 | c.2348T>A (p.Leu783Gln) c.*2031T>A (n.*2031T>A) c.2321T>A (p.Leu774Gln) c.16T>A c.99T>A c.2114T>A (p.Leu705Gln) c.2255T>A (p.Leu752Gln) c.2141T>A (p.Leu714Gln) c.2075T>A (p.Leu692Gln) | |
| 4 | g.15984291_15984294del | CA2670097897 | PROM1 | c.2345_2348del (p.Phe782CysfsTer9) c.*2028_*2031del (n.*2028_*2031del) c.2318_2321del (p.Phe773CysfsTer9) c.13_16del c.96_99del c.2111_2114del (p.Phe704CysfsTer9) c.2252_2255del (p.Phe751CysfsTer9) c.2138_2141del (p.Phe713CysfsTer9) c.2072_2075del (p.Phe691CysfsTer9) | gnomAD v4 |
| 4 | g.15984289G>A | CA438381418 | PROM1 | c.2347C>T (p.Leu783=) c.*2030C>T (n.*2030C>T) c.2320C>T (p.Leu774=) c.15C>T c.98C>T c.2113C>T (p.Leu705=) c.2254C>T (p.Leu752=) c.2140C>T (p.Leu714=) c.2074C>T (p.Leu692=) | |
| 4 | g.15984289G>C | CA356426931 | PROM1 | c.2347C>G (p.Leu783Val) c.*2030C>G (n.*2030C>G) c.2320C>G (p.Leu774Val) c.15C>G c.98C>G c.2113C>G (p.Leu705Val) c.2254C>G (p.Leu752Val) c.2140C>G (p.Leu714Val) c.2074C>G (p.Leu692Val) | |
| 4 | g.15984289G>T | CA356426932 | PROM1 | c.2347C>A (p.Leu783Met) c.*2030C>A (n.*2030C>A) c.2320C>A (p.Leu774Met) c.15C>A c.98C>A c.2113C>A (p.Leu705Met) c.2254C>A (p.Leu752Met) c.2140C>A (p.Leu714Met) c.2074C>A (p.Leu692Met) | |
| 4 | g.15984290A>C | CA356426933 | PROM1 | c.2346T>G (p.Phe782Leu) c.*2029T>G (n.*2029T>G) c.2319T>G (p.Phe773Leu) c.14T>G c.97T>G c.2112T>G (p.Phe704Leu) c.2253T>G (p.Phe751Leu) c.2139T>G (p.Phe713Leu) c.2073T>G (p.Phe691Leu) | |
| 4 | g.15984290A>G | CA438381420 | PROM1 | c.2346T>C (p.Phe782=) c.*2029T>C (n.*2029T>C) c.2319T>C (p.Phe773=) c.14T>C c.97T>C c.2112T>C (p.Phe704=) c.2253T>C (p.Phe751=) c.2139T>C (p.Phe713=) c.2073T>C (p.Phe691=) | |
| 4 | g.15984290A>T | CA356426934 | PROM1 | c.2346T>A (p.Phe782Leu) c.*2029T>A (n.*2029T>A) c.2319T>A (p.Phe773Leu) c.14T>A c.97T>A c.2112T>A (p.Phe704Leu) c.2253T>A (p.Phe751Leu) c.2139T>A (p.Phe713Leu) c.2073T>A (p.Phe691Leu) | |
| 4 | g.15984291A>C | CA356426935 | PROM1 | c.2345T>G (p.Phe782Cys) c.*2028T>G (n.*2028T>G) c.2318T>G (p.Phe773Cys) c.13T>G c.96T>G c.2111T>G (p.Phe704Cys) c.2252T>G (p.Phe751Cys) c.2138T>G (p.Phe713Cys) c.2072T>G (p.Phe691Cys) | |
| 4 | g.15984291A>G | CA356426936 | PROM1 | c.2345T>C (p.Phe782Ser) c.*2028T>C (n.*2028T>C) c.2318T>C (p.Phe773Ser) c.13T>C c.96T>C c.2111T>C (p.Phe704Ser) c.2252T>C (p.Phe751Ser) c.2138T>C (p.Phe713Ser) c.2072T>C (p.Phe691Ser) | gnomAD v4 |
| 4 | g.15984291A>T | CA356426937 | PROM1 | c.2345T>A (p.Phe782Tyr) c.*2028T>A (n.*2028T>A) c.2318T>A (p.Phe773Tyr) c.13T>A c.96T>A c.2111T>A (p.Phe704Tyr) c.2252T>A (p.Phe751Tyr) c.2138T>A (p.Phe713Tyr) c.2072T>A (p.Phe691Tyr) | |
| 4 | g.15984292A>C | CA356426938 | PROM1 | c.2344T>G (p.Phe782Val) c.*2027T>G (n.*2027T>G) c.2317T>G (p.Phe773Val) c.12T>G c.95T>G c.2110T>G (p.Phe704Val) c.2251T>G (p.Phe751Val) c.2137T>G (p.Phe713Val) c.2071T>G (p.Phe691Val) | |
| 4 | g.15984292A>G | CA356426940 | PROM1 | c.2344T>C (p.Phe782Leu) c.*2027T>C (n.*2027T>C) c.2317T>C (p.Phe773Leu) c.12T>C c.95T>C c.2110T>C (p.Phe704Leu) c.2251T>C (p.Phe751Leu) c.2137T>C (p.Phe713Leu) c.2071T>C (p.Phe691Leu) | |
| 4 | g.15984292A>T | CA356426939 | PROM1 | c.2344T>A (p.Phe782Ile) c.*2027T>A (n.*2027T>A) c.2317T>A (p.Phe773Ile) c.12T>A c.95T>A c.2110T>A (p.Phe704Ile) c.2251T>A (p.Phe751Ile) c.2137T>A (p.Phe713Ile) c.2071T>A (p.Phe691Ile) | |
| 4 | g.15984293G>A | CA2866419 | PROM1 | c.2343C>T (p.Val781=) c.*2026C>T (n.*2026C>T) c.2316C>T (p.Val772=) c.11C>T c.94C>T c.2109C>T (p.Val703=) c.2250C>T (p.Val750=) c.2136C>T (p.Val712=) c.2070C>T (p.Val690=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15984293G>C | CA438381421 | PROM1 | c.2343C>G (p.Val781=) c.*2026C>G (n.*2026C>G) c.2316C>G (p.Val772=) c.11C>G c.94C>G c.2109C>G (p.Val703=) c.2250C>G (p.Val750=) c.2136C>G (p.Val712=) c.2070C>G (p.Val690=) | |
| 4 | g.15984293G= | CA1440892945 | PROM1 | c.2343C= (p.Val781=) c.*2026C= (n.*2026C=) c.2316C= (p.Val772=) c.11C= c.94C= c.2109C= (p.Val703=) c.2250C= (p.Val750=) c.2136C= (p.Val712=) c.2070C= (p.Val690=) | |
| 4 | g.15984293G>T | CA438381422 | PROM1 | c.2343C>A (p.Val781=) c.*2026C>A (n.*2026C>A) c.2316C>A (p.Val772=) c.11C>A c.94C>A c.2109C>A (p.Val703=) c.2250C>A (p.Val750=) c.2136C>A (p.Val712=) c.2070C>A (p.Val690=) | |
| 4 | g.15984294A>C | CA356426941 | PROM1 | c.2342T>G (p.Val781Gly) c.*2025T>G (n.*2025T>G) c.2315T>G (p.Val772Gly) c.10T>G c.93T>G c.2108T>G (p.Val703Gly) c.2249T>G (p.Val750Gly) c.2135T>G (p.Val712Gly) c.2069T>G (p.Val690Gly) | |
| 4 | g.15984294A>G | CA356426942 | PROM1 | c.2342T>C (p.Val781Ala) c.*2025T>C (n.*2025T>C) c.2315T>C (p.Val772Ala) c.10T>C c.93T>C c.2108T>C (p.Val703Ala) c.2249T>C (p.Val750Ala) c.2135T>C (p.Val712Ala) c.2069T>C (p.Val690Ala) | |
| 4 | g.15984294A>T | CA356426943 | PROM1 | c.2342T>A (p.Val781Asp) c.*2025T>A (n.*2025T>A) c.2315T>A (p.Val772Asp) c.10T>A c.93T>A c.2108T>A (p.Val703Asp) c.2249T>A (p.Val750Asp) c.2135T>A (p.Val712Asp) c.2069T>A (p.Val690Asp) | |
| 4 | g.15984295C>A | CA356426944 | PROM1 | c.2341G>T (p.Val781Phe) c.*2024G>T (n.*2024G>T) c.2314G>T (p.Val772Phe) c.9G>T c.92G>T c.2107G>T (p.Val703Phe) c.2248G>T (p.Val750Phe) c.2134G>T (p.Val712Phe) c.2068G>T (p.Val690Phe) | |
| 4 | g.15984295C>G | CA356426945 | PROM1 | c.2341G>C (p.Val781Leu) c.*2024G>C (n.*2024G>C) c.2314G>C (p.Val772Leu) c.9G>C c.92G>C c.2107G>C (p.Val703Leu) c.2248G>C (p.Val750Leu) c.2134G>C (p.Val712Leu) c.2068G>C (p.Val690Leu) |