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 |
|---|---|---|---|---|---|
| 5 | g.138947133A= | CA1586100190 | SIL1 | c.1370T= (p.Leu457=) c.1391T= (p.Leu464=) n.705T= c.1400T= (p.Leu467=) | |
| 5 | g.138947133A>C | CA361136342 | SIL1 | c.1370T>G (p.Leu457Arg) c.1391T>G (p.Leu464Arg) n.705T>G c.1400T>G (p.Leu467Arg) | |
| 5 | g.138947133A>G | CA252373 | SIL1 | c.1370T>C (p.Leu457Pro) c.1391T>C (p.Leu464Pro) n.705T>C c.1400T>C (p.Leu467Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947133A>T | CA361136341 | SIL1 | c.1370T>A (p.Leu457Gln) c.1391T>A (p.Leu464Gln) n.705T>A c.1400T>A (p.Leu467Gln) | |
| 5 | g.138947134G>A | CA446793179 | SIL1 | c.1369C>T (p.Leu457=) c.1390C>T (p.Leu464=) n.704C>T c.1399C>T (p.Leu467=) | |
| 5 | g.138947134G>C | CA361136344 | SIL1 | c.1369C>G (p.Leu457Val) c.1390C>G (p.Leu464Val) n.704C>G c.1399C>G (p.Leu467Val) | |
| 5 | g.138947134G>T | CA361136343 | SIL1 | c.1369C>A (p.Leu457Met) c.1390C>A (p.Leu464Met) n.704C>A c.1399C>A (p.Leu467Met) | gnomAD v4 |
| 5 | g.138947135C>A | CA361136346 | SIL1 | c.1368G>T (p.Leu456Phe) c.1389G>T (p.Leu463Phe) n.703G>T c.1398G>T (p.Leu466Phe) | |
| 5 | g.138947135C= | CA1586100191 | SIL1 | c.1368G= (p.Leu456=) c.1389G= (p.Leu463=) n.703G= c.1398G= (p.Leu466=) | |
| 5 | g.138947135C>G | CA361136345 | SIL1 | c.1368G>C (p.Leu456Phe) c.1389G>C (p.Leu463Phe) n.703G>C c.1398G>C (p.Leu466Phe) | |
| 5 | g.138947135C>T | CA3432319 | SIL1 | c.1368G>A (p.Leu456=) c.1389G>A (p.Leu463=) n.703G>A c.1398G>A (p.Leu466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947136A>C | CA361136347 | SIL1 | c.1367T>G (p.Leu456Trp) c.1388T>G (p.Leu463Trp) n.702T>G c.1397T>G (p.Leu466Trp) | |
| 5 | g.138947136A>G | CA361136348 | SIL1 | c.1367T>C (p.Leu456Ser) c.1388T>C (p.Leu463Ser) n.702T>C c.1397T>C (p.Leu466Ser) | |
| 5 | g.138947136A>T | CA361136349 | SIL1 | c.1367T>A (p.Leu456Ter) c.1388T>A (p.Leu463Ter) n.702T>A c.1397T>A (p.Leu466Ter) | |
| 5 | g.138947137del | CA2588340084 | SIL1 | c.1367del (p.Leu456CysfsTer2) c.1388del (p.Leu463CysfsTer2) n.702del c.1397del (p.Leu466CysfsTer2) | |
| 5 | g.138947137A>C | CA361136350 | SIL1 | c.1366T>G (p.Leu456Val) c.1387T>G (p.Leu463Val) n.701T>G c.1396T>G (p.Leu466Val) | |
| 5 | g.138947137A>G | CA446793182 | SIL1 | c.1366T>C (p.Leu456=) c.1387T>C (p.Leu463=) n.701T>C c.1396T>C (p.Leu466=) | |
| 5 | g.138947137A>T | CA361136351 | SIL1 | c.1366T>A (p.Leu456Met) c.1387T>A (p.Leu463Met) n.701T>A c.1396T>A (p.Leu466Met) | |
| 5 | g.138947138G>A | CA446793183 | SIL1 | c.1365C>T (p.Ser455=) c.1386C>T (p.Ser462=) n.700C>T c.1395C>T (p.Ser465=) | |
| 5 | g.138947138G>C | CA361136352 | SIL1 | c.1365C>G (p.Ser455Arg) c.1386C>G (p.Ser462Arg) n.700C>G c.1395C>G (p.Ser465Arg) | |
| 5 | g.138947138G>T | CA361136353 | SIL1 | c.1365C>A (p.Ser455Arg) c.1386C>A (p.Ser462Arg) n.700C>A c.1395C>A (p.Ser465Arg) | |
| 5 | g.138947139C>A | CA361136354 | SIL1 | c.1364G>T (p.Ser455Ile) c.1385G>T (p.Ser462Ile) n.699G>T c.1394G>T (p.Ser465Ile) | |
| 5 | g.138947139C>G | CA361136355 | SIL1 | c.1364G>C (p.Ser455Thr) c.1385G>C (p.Ser462Thr) n.699G>C c.1394G>C (p.Ser465Thr) | gnomAD v4 |
| 5 | g.138947139C>T | CA361136356 | SIL1 | c.1364G>A (p.Ser455Asn) c.1385G>A (p.Ser462Asn) n.699G>A c.1394G>A (p.Ser465Asn) | ClinVar |
| 5 | g.138947140T>A | CA361136359 | SIL1 | c.1363A>T (p.Ser455Cys) c.1384A>T (p.Ser462Cys) n.698A>T c.1393A>T (p.Ser465Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947140T>C | CA361136357 | SIL1 | c.1363A>G (p.Ser455Gly) c.1384A>G (p.Ser462Gly) n.698A>G c.1393A>G (p.Ser465Gly) | gnomAD v4 |
| 5 | g.138947140T>G | CA361136358 | SIL1 | c.1363A>C (p.Ser455Arg) c.1384A>C (p.Ser462Arg) n.698A>C c.1393A>C (p.Ser465Arg) | |
| 5 | g.138947140T= | CA1586100192 | SIL1 | c.1363A= (p.Ser455=) c.1384A= (p.Ser462=) n.698A= c.1393A= (p.Ser465=) | |
| 5 | g.138947141G>A | CA446793187 | SIL1 | c.1362C>T (p.Asn454=) c.1383C>T (p.Asn461=) n.697C>T c.1392C>T (p.Asn464=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947141G>C | CA361136360 | SIL1 | c.1362C>G (p.Asn454Lys) c.1383C>G (p.Asn461Lys) n.697C>G c.1392C>G (p.Asn464Lys) | gnomAD v4 |
| 5 | g.138947141G= | CA1586100193 | SIL1 | c.1362C= (p.Asn454=) c.1383C= (p.Asn461=) n.697C= c.1392C= (p.Asn464=) | |
| 5 | g.138947141G>T | CA361136361 | SIL1 | c.1362C>A (p.Asn454Lys) c.1383C>A (p.Asn461Lys) n.697C>A c.1392C>A (p.Asn464Lys) | |
| 5 | g.138947142T>A | CA361136362 | SIL1 | c.1361A>T (p.Asn454Ile) c.1382A>T (p.Asn461Ile) n.696A>T c.1391A>T (p.Asn464Ile) | |
| 5 | g.138947142T>C | CA361136363 | SIL1 | c.1361A>G (p.Asn454Ser) c.1382A>G (p.Asn461Ser) n.696A>G c.1391A>G (p.Asn464Ser) | dbSNP gnomAD v4 |
| 5 | g.138947142T>G | CA361136364 | SIL1 | c.1361A>C (p.Asn454Thr) c.1382A>C (p.Asn461Thr) n.696A>C c.1391A>C (p.Asn464Thr) | |
| 5 | g.138947142T= | CA1586100194 | SIL1 | c.1361A= (p.Asn454=) c.1382A= (p.Asn461=) n.696A= c.1391A= (p.Asn464=) | |
| 5 | g.138947143T>A | CA361136365 | SIL1 | c.1360A>T (p.Asn454Tyr) c.1381A>T (p.Asn461Tyr) n.695A>T c.1390A>T (p.Asn464Tyr) | |
| 5 | g.138947143T>C | CA361136366 | SIL1 | c.1360A>G (p.Asn454Asp) c.1381A>G (p.Asn461Asp) n.695A>G c.1390A>G (p.Asn464Asp) | gnomAD v4 |
| 5 | g.138947143T>G | CA361136367 | SIL1 | c.1360A>C (p.Asn454His) c.1381A>C (p.Asn461His) n.695A>C c.1390A>C (p.Asn464His) | |
| 5 | g.138947144G>A | CA446793190 | SIL1 | c.1359C>T (p.Val453=) c.1380C>T (p.Val460=) n.694C>T c.1389C>T (p.Val463=) | dbSNP |
| 5 | g.138947144G>C | CA446793191 | SIL1 | c.1359C>G (p.Val453=) c.1380C>G (p.Val460=) n.694C>G c.1389C>G (p.Val463=) | |
| 5 | g.138947144G>T | CA446793192 | SIL1 | c.1359C>A (p.Val453=) c.1380C>A (p.Val460=) n.694C>A c.1389C>A (p.Val463=) | |
| 5 | g.138947145A= | CA1586100195 | SIL1 | c.1358T= (p.Val453=) c.1379T= (p.Val460=) n.693T= c.1388T= (p.Val463=) | |
| 5 | g.138947145A>C | CA361136368 | SIL1 | c.1358T>G (p.Val453Gly) c.1379T>G (p.Val460Gly) n.693T>G c.1388T>G (p.Val463Gly) | |
| 5 | g.138947145A>G | CA3432320 | SIL1 | c.1358T>C (p.Val453Ala) c.1379T>C (p.Val460Ala) n.693T>C c.1388T>C (p.Val463Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947145A>T | CA361136369 | SIL1 | c.1358T>A (p.Val453Asp) c.1379T>A (p.Val460Asp) n.693T>A c.1388T>A (p.Val463Asp) | |
| 5 | g.138947146C>A | CA361136371 | SIL1 | c.1357G>T (p.Val453Phe) c.1378G>T (p.Val460Phe) n.692G>T c.1387G>T (p.Val463Phe) | |
| 5 | g.138947146C= | CA1586100196 | SIL1 | c.1357G= (p.Val453=) c.1378G= (p.Val460=) n.692G= c.1387G= (p.Val463=) | |
| 5 | g.138947146C>G | CA361136372 | SIL1 | c.1357G>C (p.Val453Leu) c.1378G>C (p.Val460Leu) n.692G>C c.1387G>C (p.Val463Leu) | |
| 5 | g.138947146C>T | CA361136370 | SIL1 | c.1357G>A (p.Val453Ile) c.1378G>A (p.Val460Ile) n.692G>A c.1387G>A (p.Val463Ile) |