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 |
|---|---|---|---|---|---|
| 12 | g.21845647A>C | CA384119497 | ABCC9 | c.3052T>G (p.Trp1018Gly) n.629T>G c.*2150T>G (n.*2150T>G) n.2553T>G c.3001T>G (p.Trp1001Gly) c.1933T>G (p.Trp645Gly) c.3013T>G (p.Trp1005Gly) c.2911T>G (p.Trp971Gly) c.2185T>G (p.Trp729Gly) | |
| 12 | g.21845647A>G | CA384119505 | ABCC9 | c.3052T>C (p.Trp1018Arg) n.629T>C c.*2150T>C (n.*2150T>C) n.2553T>C c.3001T>C (p.Trp1001Arg) c.1933T>C (p.Trp645Arg) c.3013T>C (p.Trp1005Arg) c.2911T>C (p.Trp971Arg) c.2185T>C (p.Trp729Arg) | |
| 12 | g.21845647A>T | CA384119507 | ABCC9 | c.3052T>A (p.Trp1018Arg) n.629T>A c.*2150T>A (n.*2150T>A) n.2553T>A c.3001T>A (p.Trp1001Arg) c.1933T>A (p.Trp645Arg) c.3013T>A (p.Trp1005Arg) c.2911T>A (p.Trp971Arg) c.2185T>A (p.Trp729Arg) | |
| 12 | g.21845648T>A | CA478870864 | ABCC9 | c.3051A>T (p.Thr1017=) n.628A>T c.*2149A>T (n.*2149A>T) n.2552A>T c.3000A>T (p.Thr1000=) c.1932A>T (p.Thr644=) c.3012A>T (p.Thr1004=) c.2910A>T (p.Thr970=) c.2184A>T (p.Thr728=) | dbSNP |
| 12 | g.21845648T>C | CA478870865 | ABCC9 | c.3051A>G (p.Thr1017=) n.628A>G c.*2149A>G (n.*2149A>G) n.2552A>G c.3000A>G (p.Thr1000=) c.1932A>G (p.Thr644=) c.3012A>G (p.Thr1004=) c.2910A>G (p.Thr970=) c.2184A>G (p.Thr728=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21845648T>G | CA478870867 | ABCC9 | c.3051A>C (p.Thr1017=) n.628A>C c.*2149A>C (n.*2149A>C) n.2552A>C c.3000A>C (p.Thr1000=) c.1932A>C (p.Thr644=) c.3012A>C (p.Thr1004=) c.2910A>C (p.Thr970=) c.2184A>C (p.Thr728=) | |
| 12 | g.21845648T= | CA2021315459 | ABCC9 | c.3051A= (p.Thr1017=) n.628A= c.*2149A= (n.*2149A=) n.2552A= c.3000A= (p.Thr1000=) c.1932A= (p.Thr644=) c.3012A= (p.Thr1004=) c.2910A= (p.Thr970=) c.2184A= (p.Thr728=) | |
| 12 | g.21845649G>A | CA384119509 | ABCC9 | c.3050C>T (p.Thr1017Ile) n.627C>T c.*2148C>T (n.*2148C>T) n.2551C>T c.2999C>T (p.Thr1000Ile) c.1931C>T (p.Thr644Ile) c.3011C>T (p.Thr1004Ile) c.2909C>T (p.Thr970Ile) c.2183C>T (p.Thr728Ile) | |
| 12 | g.21845649G>C | CA384119510 | ABCC9 | c.3050C>G (p.Thr1017Arg) n.627C>G c.*2148C>G (n.*2148C>G) n.2551C>G c.2999C>G (p.Thr1000Arg) c.1931C>G (p.Thr644Arg) c.3011C>G (p.Thr1004Arg) c.2909C>G (p.Thr970Arg) c.2183C>G (p.Thr728Arg) | |
| 12 | g.21845649G>T | CA384119511 | ABCC9 | c.3050C>A (p.Thr1017Lys) n.627C>A c.*2148C>A (n.*2148C>A) n.2551C>A c.2999C>A (p.Thr1000Lys) c.1931C>A (p.Thr644Lys) c.3011C>A (p.Thr1004Lys) c.2909C>A (p.Thr970Lys) c.2183C>A (p.Thr728Lys) | COSMIC COSMIC |
| 12 | g.21845650T>A | CA384119523 | ABCC9 | c.3049A>T (p.Thr1017Ser) n.626A>T c.*2147A>T (n.*2147A>T) n.2550A>T c.2998A>T (p.Thr1000Ser) c.1930A>T (p.Thr644Ser) c.3010A>T (p.Thr1004Ser) c.2908A>T (p.Thr970Ser) c.2182A>T (p.Thr728Ser) | |
| 12 | g.21845650T>C | CA384119520 | ABCC9 | c.3049A>G (p.Thr1017Ala) n.626A>G c.*2147A>G (n.*2147A>G) n.2550A>G c.2998A>G (p.Thr1000Ala) c.1930A>G (p.Thr644Ala) c.3010A>G (p.Thr1004Ala) c.2908A>G (p.Thr970Ala) c.2182A>G (p.Thr728Ala) | |
| 12 | g.21845650T>G | CA384119514 | ABCC9 | c.3049A>C (p.Thr1017Pro) n.626A>C c.*2147A>C (n.*2147A>C) n.2550A>C c.2998A>C (p.Thr1000Pro) c.1930A>C (p.Thr644Pro) c.3010A>C (p.Thr1004Pro) c.2908A>C (p.Thr970Pro) c.2182A>C (p.Thr728Pro) | |
| 12 | g.21845651G>A | CA478870868 | ABCC9 | c.3048C>T (p.Ala1016=) n.625C>T c.*2146C>T (n.*2146C>T) n.2549C>T c.2997C>T (p.Ala999=) c.1929C>T (p.Ala643=) c.3009C>T (p.Ala1003=) c.2907C>T (p.Ala969=) c.2181C>T (p.Ala727=) | |
| 12 | g.21845651G>C | CA478870869 | ABCC9 | c.3048C>G (p.Ala1016=) n.625C>G c.*2146C>G (n.*2146C>G) n.2549C>G c.2997C>G (p.Ala999=) c.1929C>G (p.Ala643=) c.3009C>G (p.Ala1003=) c.2907C>G (p.Ala969=) c.2181C>G (p.Ala727=) | |
| 12 | g.21845651G>T | CA478870870 | ABCC9 | c.3048C>A (p.Ala1016=) n.625C>A c.*2146C>A (n.*2146C>A) n.2549C>A c.2997C>A (p.Ala999=) c.1929C>A (p.Ala643=) c.3009C>A (p.Ala1003=) c.2907C>A (p.Ala969=) c.2181C>A (p.Ala727=) | |
| 12 | g.21845652G>A | CA384119526 | ABCC9 | c.3047C>T (p.Ala1016Val) n.624C>T c.*2145C>T (n.*2145C>T) n.2548C>T c.2996C>T (p.Ala999Val) c.1928C>T (p.Ala643Val) c.3008C>T (p.Ala1003Val) c.2906C>T (p.Ala969Val) c.2180C>T (p.Ala727Val) | |
| 12 | g.21845652G>C | CA384119532 | ABCC9 | c.3047C>G (p.Ala1016Gly) n.624C>G c.*2145C>G (n.*2145C>G) n.2548C>G c.2996C>G (p.Ala999Gly) c.1928C>G (p.Ala643Gly) c.3008C>G (p.Ala1003Gly) c.2906C>G (p.Ala969Gly) c.2180C>G (p.Ala727Gly) | |
| 12 | g.21845652G= | CA2021315463 | ABCC9 | c.3047C= (p.Ala1016=) n.624C= c.*2145C= (n.*2145C=) n.2548C= c.2996C= (p.Ala999=) c.1928C= (p.Ala643=) c.3008C= (p.Ala1003=) c.2906C= (p.Ala969=) c.2180C= (p.Ala727=) | |
| 12 | g.21845652G>T | CA384119542 | ABCC9 | c.3047C>A (p.Ala1016Asp) n.624C>A c.*2145C>A (n.*2145C>A) n.2548C>A c.2996C>A (p.Ala999Asp) c.1928C>A (p.Ala643Asp) c.3008C>A (p.Ala1003Asp) c.2906C>A (p.Ala969Asp) c.2180C>A (p.Ala727Asp) | dbSNP |
| 12 | g.21845653C>A | CA384119546 | ABCC9 | c.3046G>T (p.Ala1016Ser) n.623G>T c.*2144G>T (n.*2144G>T) n.2547G>T c.2995G>T (p.Ala999Ser) c.1927G>T (p.Ala643Ser) c.3007G>T (p.Ala1003Ser) c.2905G>T (p.Ala969Ser) c.2179G>T (p.Ala727Ser) | |
| 12 | g.21845653C= | CA2021315469 | ABCC9 | c.3046G= (p.Ala1016=) n.623G= c.*2144G= (n.*2144G=) n.2547G= c.2995G= (p.Ala999=) c.1927G= (p.Ala643=) c.3007G= (p.Ala1003=) c.2905G= (p.Ala969=) c.2179G= (p.Ala727=) | |
| 12 | g.21845653C>G | CA384119549 | ABCC9 | c.3046G>C (p.Ala1016Pro) n.623G>C c.*2144G>C (n.*2144G>C) n.2547G>C c.2995G>C (p.Ala999Pro) c.1927G>C (p.Ala643Pro) c.3007G>C (p.Ala1003Pro) c.2905G>C (p.Ala969Pro) c.2179G>C (p.Ala727Pro) | |
| 12 | g.21845653C>T | CA384119552 | ABCC9 | c.3046G>A (p.Ala1016Thr) n.623G>A c.*2144G>A (n.*2144G>A) n.2547G>A c.2995G>A (p.Ala999Thr) c.1927G>A (p.Ala643Thr) c.3007G>A (p.Ala1003Thr) c.2905G>A (p.Ala969Thr) c.2179G>A (p.Ala727Thr) | dbSNP |
| 12 | g.21845654C>A | CA478870873 | ABCC9 | c.3045G>T (p.Leu1015=) n.622G>T c.*2143G>T (n.*2143G>T) n.2546G>T c.2994G>T (p.Leu998=) c.1926G>T (p.Leu642=) c.3006G>T (p.Leu1002=) c.2904G>T (p.Leu968=) c.2178G>T (p.Leu726=) | |
| 12 | g.21845654C>G | CA478870875 | ABCC9 | c.3045G>C (p.Leu1015=) n.622G>C c.*2143G>C (n.*2143G>C) n.2546G>C c.2994G>C (p.Leu998=) c.1926G>C (p.Leu642=) c.3006G>C (p.Leu1002=) c.2904G>C (p.Leu968=) c.2178G>C (p.Leu726=) | |
| 12 | g.21845654C>T | CA478870874 | ABCC9 | c.3045G>A (p.Leu1015=) n.622G>A c.*2143G>A (n.*2143G>A) n.2546G>A c.2994G>A (p.Leu998=) c.1926G>A (p.Leu642=) c.3006G>A (p.Leu1002=) c.2904G>A (p.Leu968=) c.2178G>A (p.Leu726=) | gnomAD v4 |
| 12 | g.21845655A>C | CA384119563 | ABCC9 | c.3044T>G (p.Leu1015Arg) n.621T>G c.*2142T>G (n.*2142T>G) n.2545T>G c.2993T>G (p.Leu998Arg) c.1925T>G (p.Leu642Arg) c.3005T>G (p.Leu1002Arg) c.2903T>G (p.Leu968Arg) c.2177T>G (p.Leu726Arg) | |
| 12 | g.21845655A>G | CA384119559 | ABCC9 | c.3044T>C (p.Leu1015Pro) n.621T>C c.*2142T>C (n.*2142T>C) n.2545T>C c.2993T>C (p.Leu998Pro) c.1925T>C (p.Leu642Pro) c.3005T>C (p.Leu1002Pro) c.2903T>C (p.Leu968Pro) c.2177T>C (p.Leu726Pro) | |
| 12 | g.21845655A>T | CA384119560 | ABCC9 | c.3044T>A (p.Leu1015Gln) n.621T>A c.*2142T>A (n.*2142T>A) n.2545T>A c.2993T>A (p.Leu998Gln) c.1925T>A (p.Leu642Gln) c.3005T>A (p.Leu1002Gln) c.2903T>A (p.Leu968Gln) c.2177T>A (p.Leu726Gln) | |
| 12 | g.21845656G>A | CA478870876 | ABCC9 | c.3043C>T (p.Leu1015=) n.620C>T c.*2141C>T (n.*2141C>T) n.2544C>T c.2992C>T (p.Leu998=) c.1924C>T (p.Leu642=) c.3004C>T (p.Leu1002=) c.2902C>T (p.Leu968=) c.2176C>T (p.Leu726=) | |
| 12 | g.21845656G>C | CA384119565 | ABCC9 | c.3043C>G (p.Leu1015Val) n.620C>G c.*2141C>G (n.*2141C>G) n.2544C>G c.2992C>G (p.Leu998Val) c.1924C>G (p.Leu642Val) c.3004C>G (p.Leu1002Val) c.2902C>G (p.Leu968Val) c.2176C>G (p.Leu726Val) | |
| 12 | g.21845656G>T | CA384119568 | ABCC9 | c.3043C>A (p.Leu1015Met) n.620C>A c.*2141C>A (n.*2141C>A) n.2544C>A c.2992C>A (p.Leu998Met) c.1924C>A (p.Leu642Met) c.3004C>A (p.Leu1002Met) c.2902C>A (p.Leu968Met) c.2176C>A (p.Leu726Met) | |
| 12 | g.21845657C>A | CA384119577 | ABCC9 | c.3042G>T (p.Trp1014Cys) n.619G>T c.*2140G>T (n.*2140G>T) n.2543G>T c.2991G>T (p.Trp997Cys) c.1923G>T (p.Trp641Cys) c.3003G>T (p.Trp1001Cys) c.2901G>T (p.Trp967Cys) c.2175G>T (p.Trp725Cys) | |
| 12 | g.21845657C>G | CA384119578 | ABCC9 | c.3042G>C (p.Trp1014Cys) n.619G>C c.*2140G>C (n.*2140G>C) n.2543G>C c.2991G>C (p.Trp997Cys) c.1923G>C (p.Trp641Cys) c.3003G>C (p.Trp1001Cys) c.2901G>C (p.Trp967Cys) c.2175G>C (p.Trp725Cys) | |
| 12 | g.21845657C>T | CA384119579 | ABCC9 | c.3042G>A (p.Trp1014Ter) n.619G>A c.*2140G>A (n.*2140G>A) n.2543G>A c.2991G>A (p.Trp997Ter) c.1923G>A (p.Trp641Ter) c.3003G>A (p.Trp1001Ter) c.2901G>A (p.Trp967Ter) c.2175G>A (p.Trp725Ter) | |
| 12 | g.21845658C>A | CA233595088 | ABCC9 | c.3041G>T (p.Trp1014Leu) n.618G>T c.*2139G>T (n.*2139G>T) n.2542G>T c.2990G>T (p.Trp997Leu) c.1922G>T (p.Trp641Leu) c.3002G>T (p.Trp1001Leu) c.2900G>T (p.Trp967Leu) c.2174G>T (p.Trp725Leu) | dbSNP |
| 12 | g.21845658C= | CA2021315474 | ABCC9 | c.3041G= (p.Trp1014=) n.618G= c.*2139G= (n.*2139G=) n.2542G= c.2990G= (p.Trp997=) c.1922G= (p.Trp641=) c.3002G= (p.Trp1001=) c.2900G= (p.Trp967=) c.2174G= (p.Trp725=) | |
| 12 | g.21845658C>G | CA384119583 | ABCC9 | c.3041G>C (p.Trp1014Ser) n.618G>C c.*2139G>C (n.*2139G>C) n.2542G>C c.2990G>C (p.Trp997Ser) c.1922G>C (p.Trp641Ser) c.3002G>C (p.Trp1001Ser) c.2900G>C (p.Trp967Ser) c.2174G>C (p.Trp725Ser) | |
| 12 | g.21845658C>T | CA384119584 | ABCC9 | c.3041G>A (p.Trp1014Ter) n.618G>A c.*2139G>A (n.*2139G>A) n.2542G>A c.2990G>A (p.Trp997Ter) c.1922G>A (p.Trp641Ter) c.3002G>A (p.Trp1001Ter) c.2900G>A (p.Trp967Ter) c.2174G>A (p.Trp725Ter) | |
| 12 | g.21845659A>C | CA384119585 | ABCC9 | c.3040T>G (p.Trp1014Gly) n.617T>G c.*2138T>G (n.*2138T>G) n.2541T>G c.2989T>G (p.Trp997Gly) c.1921T>G (p.Trp641Gly) c.3001T>G (p.Trp1001Gly) c.2899T>G (p.Trp967Gly) c.2173T>G (p.Trp725Gly) | |
| 12 | g.21845659A>G | CA384119586 | ABCC9 | c.3040T>C (p.Trp1014Arg) n.617T>C c.*2138T>C (n.*2138T>C) n.2541T>C c.2989T>C (p.Trp997Arg) c.1921T>C (p.Trp641Arg) c.3001T>C (p.Trp1001Arg) c.2899T>C (p.Trp967Arg) c.2173T>C (p.Trp725Arg) | |
| 12 | g.21845659A>T | CA384119587 | ABCC9 | c.3040T>A (p.Trp1014Arg) n.617T>A c.*2138T>A (n.*2138T>A) n.2541T>A c.2989T>A (p.Trp997Arg) c.1921T>A (p.Trp641Arg) c.3001T>A (p.Trp1001Arg) c.2899T>A (p.Trp967Arg) c.2173T>A (p.Trp725Arg) | |
| 12 | g.21845660A= | CA2021315480 | ABCC9 | c.3039T= (p.Tyr1013=) n.616T= c.*2137T= (n.*2137T=) n.2540T= c.2988T= (p.Tyr996=) c.1920T= (p.Tyr640=) c.3000T= (p.Tyr1000=) c.2898T= (p.Tyr966=) c.2172T= (p.Tyr724=) | |
| 12 | g.21845660A>C | CA384119589 | ABCC9 | c.3039T>G (p.Tyr1013Ter) n.616T>G c.*2137T>G (n.*2137T>G) n.2540T>G c.2988T>G (p.Tyr996Ter) c.1920T>G (p.Tyr640Ter) c.3000T>G (p.Tyr1000Ter) c.2898T>G (p.Tyr966Ter) c.2172T>G (p.Tyr724Ter) | |
| 12 | g.21845660A>G | CA233595089 | ABCC9 | c.3039T>C (p.Tyr1013=) n.616T>C c.*2137T>C (n.*2137T>C) n.2540T>C c.2988T>C (p.Tyr996=) c.1920T>C (p.Tyr640=) c.3000T>C (p.Tyr1000=) c.2898T>C (p.Tyr966=) c.2172T>C (p.Tyr724=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21845660A>T | CA384119591 | ABCC9 | c.3039T>A (p.Tyr1013Ter) n.616T>A c.*2137T>A (n.*2137T>A) n.2540T>A c.2988T>A (p.Tyr996Ter) c.1920T>A (p.Tyr640Ter) c.3000T>A (p.Tyr1000Ter) c.2898T>A (p.Tyr966Ter) c.2172T>A (p.Tyr724Ter) | |
| 12 | g.21845661T>A | CA384119593 | ABCC9 | c.3038A>T (p.Tyr1013Phe) n.615A>T c.*2136A>T (n.*2136A>T) n.2539A>T c.2987A>T (p.Tyr996Phe) c.1919A>T (p.Tyr640Phe) c.2999A>T (p.Tyr1000Phe) c.2897A>T (p.Tyr966Phe) c.2171A>T (p.Tyr724Phe) | |
| 12 | g.21845661T>C | CA384119600 | ABCC9 | c.3038A>G (p.Tyr1013Cys) n.615A>G c.*2136A>G (n.*2136A>G) n.2539A>G c.2987A>G (p.Tyr996Cys) c.1919A>G (p.Tyr640Cys) c.2999A>G (p.Tyr1000Cys) c.2897A>G (p.Tyr966Cys) c.2171A>G (p.Tyr724Cys) | |
| 12 | g.21845661T>G | CA384119596 | ABCC9 | c.3038A>C (p.Tyr1013Ser) n.615A>C c.*2136A>C (n.*2136A>C) n.2539A>C c.2987A>C (p.Tyr996Ser) c.1919A>C (p.Tyr640Ser) c.2999A>C (p.Tyr1000Ser) c.2897A>C (p.Tyr966Ser) c.2171A>C (p.Tyr724Ser) |