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 |
|---|---|---|---|---|---|
| 13 | g.23355348T>A | CA387549431 | SACS | c.1264A>T (p.Ile422Leu) n.1402A>T c.1255A>T (p.Ile419Leu) n.3621A>T c.-987A>T (n.-987A>T) c.136A>T (p.Ile46Leu) c.962A>T c.823A>T (p.Ile275Leu) c.1288A>T (p.Ile430Leu) | |
| 13 | g.23355348T>C | CA6911939 | SACS | c.1264A>G (p.Ile422Val) n.1402A>G c.1255A>G (p.Ile419Val) n.3621A>G c.-987A>G (n.-987A>G) c.136A>G (p.Ile46Val) c.962A>G c.823A>G (p.Ile275Val) c.1288A>G (p.Ile430Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355348T>G | CA387549435 | SACS | c.1264A>C (p.Ile422Leu) n.1402A>C c.1255A>C (p.Ile419Leu) n.3621A>C c.-987A>C (n.-987A>C) c.136A>C (p.Ile46Leu) c.962A>C c.823A>C (p.Ile275Leu) c.1288A>C (p.Ile430Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23355348T= | CA2078658568 | SACS | c.1264A= (p.Ile422=) n.1402A= c.1255A= (p.Ile419=) n.3621A= c.-987A= (n.-987A=) c.136A= (p.Ile46=) c.962A= c.823A= (p.Ile275=) c.1288A= (p.Ile430=) | |
| 13 | g.23355349T>A | CA483164493 | SACS | c.1263A>T (p.Gly421=) n.1401A>T c.1254A>T (p.Gly418=) n.3620A>T c.-988A>T (n.-988A>T) c.135A>T (p.Gly45=) c.961A>T c.822A>T (p.Gly274=) c.1287A>T (p.Gly429=) | |
| 13 | g.23355349T>C | CA483164494 | SACS | c.1263A>G (p.Gly421=) n.1401A>G c.1254A>G (p.Gly418=) n.3620A>G c.-988A>G (n.-988A>G) c.135A>G (p.Gly45=) c.961A>G c.822A>G (p.Gly274=) c.1287A>G (p.Gly429=) | |
| 13 | g.23355349T>G | CA483164495 | SACS | c.1263A>C (p.Gly421=) n.1401A>C c.1254A>C (p.Gly418=) n.3620A>C c.-988A>C (n.-988A>C) c.135A>C (p.Gly45=) c.961A>C c.822A>C (p.Gly274=) c.1287A>C (p.Gly429=) | |
| 13 | g.23355350C>A | CA387549439 | SACS | c.1262G>T (p.Gly421Val) n.1400G>T c.1253G>T (p.Gly418Val) n.3619G>T c.-989G>T (n.-989G>T) c.134G>T (p.Gly45Val) c.960G>T c.821G>T (p.Gly274Val) c.1286G>T (p.Gly429Val) | |
| 13 | g.23355350C>G | CA387549441 | SACS | c.1262G>C (p.Gly421Ala) n.1400G>C c.1253G>C (p.Gly418Ala) n.3619G>C c.-989G>C (n.-989G>C) c.134G>C (p.Gly45Ala) c.960G>C c.821G>C (p.Gly274Ala) c.1286G>C (p.Gly429Ala) | |
| 13 | g.23355350C>T | CA387549443 | SACS | c.1262G>A (p.Gly421Glu) n.1400G>A c.1253G>A (p.Gly418Glu) n.3619G>A c.-989G>A (n.-989G>A) c.134G>A (p.Gly45Glu) c.960G>A c.821G>A (p.Gly274Glu) c.1286G>A (p.Gly429Glu) | COSMIC COSMIC |
| 13 | g.23355351C>A | CA387549449 | SACS | c.1261G>T (p.Gly421Ter) n.1399G>T c.1252G>T (p.Gly418Ter) n.3618G>T c.-990G>T (n.-990G>T) c.133G>T (p.Gly45Ter) c.959G>T c.820G>T (p.Gly274Ter) c.1285G>T (p.Gly429Ter) | |
| 13 | g.23355351C>G | CA387549452 | SACS | c.1261G>C (p.Gly421Arg) n.1399G>C c.1252G>C (p.Gly418Arg) n.3618G>C c.-990G>C (n.-990G>C) c.133G>C (p.Gly45Arg) c.959G>C c.820G>C (p.Gly274Arg) c.1285G>C (p.Gly429Arg) | |
| 13 | g.23355351C>T | CA387549451 | SACS | c.1261G>A (p.Gly421Arg) n.1399G>A c.1252G>A (p.Gly418Arg) n.3618G>A c.-990G>A (n.-990G>A) c.133G>A (p.Gly45Arg) c.959G>A c.820G>A (p.Gly274Arg) c.1285G>A (p.Gly429Arg) | gnomAD v4 |
| 13 | g.23355352A= | CA2078658571 | SACS | c.1260T= (p.Ile420=) n.1398T= c.1251T= (p.Ile417=) n.3617T= c.-991T= (n.-991T=) c.132T= (p.Ile44=) c.958T= c.819T= (p.Ile273=) c.1284T= (p.Ile428=) | |
| 13 | g.23355352A>C | CA387549456 | SACS | c.1260T>G (p.Ile420Met) n.1398T>G c.1251T>G (p.Ile417Met) n.3617T>G c.-991T>G (n.-991T>G) c.132T>G (p.Ile44Met) c.958T>G c.819T>G (p.Ile273Met) c.1284T>G (p.Ile428Met) | |
| 13 | g.23355352A>G | CA6911940 | SACS | c.1260T>C (p.Ile420=) n.1398T>C c.1251T>C (p.Ile417=) n.3617T>C c.-991T>C (n.-991T>C) c.132T>C (p.Ile44=) c.958T>C c.819T>C (p.Ile273=) c.1284T>C (p.Ile428=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355352A>T | CA483164498 | SACS | c.1260T>A (p.Ile420=) n.1398T>A c.1251T>A (p.Ile417=) n.3617T>A c.-991T>A (n.-991T>A) c.132T>A (p.Ile44=) c.958T>A c.819T>A (p.Ile273=) c.1284T>A (p.Ile428=) | |
| 13 | g.23355353A= | CA2078658576 | SACS | c.1259T= (p.Ile420=) n.1397T= c.1250T= (p.Ile417=) n.3616T= c.-992T= (n.-992T=) c.131T= (p.Ile44=) c.957T= c.818T= (p.Ile273=) c.1283T= (p.Ile428=) | |
| 13 | g.23355353A>C | CA387549462 | SACS | c.1259T>G (p.Ile420Ser) n.1397T>G c.1250T>G (p.Ile417Ser) n.3616T>G c.-992T>G (n.-992T>G) c.131T>G (p.Ile44Ser) c.957T>G c.818T>G (p.Ile273Ser) c.1283T>G (p.Ile428Ser) | |
| 13 | g.23355353A>G | CA6911941 | SACS | c.1259T>C (p.Ile420Thr) n.1397T>C c.1250T>C (p.Ile417Thr) n.3616T>C c.-992T>C (n.-992T>C) c.131T>C (p.Ile44Thr) c.957T>C c.818T>C (p.Ile273Thr) c.1283T>C (p.Ile428Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355353A>T | CA387549466 | SACS | c.1259T>A (p.Ile420Asn) n.1397T>A c.1250T>A (p.Ile417Asn) n.3616T>A c.-992T>A (n.-992T>A) c.131T>A (p.Ile44Asn) c.957T>A c.818T>A (p.Ile273Asn) c.1283T>A (p.Ile428Asn) | |
| 13 | g.23355354T>A | CA387549474 | SACS | c.1258A>T (p.Ile420Phe) n.1396A>T c.1249A>T (p.Ile417Phe) n.3615A>T c.-993A>T (n.-993A>T) c.130A>T (p.Ile44Phe) c.956A>T c.817A>T (p.Ile273Phe) c.1282A>T (p.Ile428Phe) | |
| 13 | g.23355354T>C | CA387549476 | SACS | c.1258A>G (p.Ile420Val) n.1396A>G c.1249A>G (p.Ile417Val) n.3615A>G c.-993A>G (n.-993A>G) c.130A>G (p.Ile44Val) c.956A>G c.817A>G (p.Ile273Val) c.1282A>G (p.Ile428Val) | gnomAD v4 |
| 13 | g.23355354T>G | CA387549471 | SACS | c.1258A>C (p.Ile420Leu) n.1396A>C c.1249A>C (p.Ile417Leu) n.3615A>C c.-993A>C (n.-993A>C) c.130A>C (p.Ile44Leu) c.956A>C c.817A>C (p.Ile273Leu) c.1282A>C (p.Ile428Leu) | |
| 13 | g.23355355G>A | CA483164502 | SACS | c.1257C>T (p.Ile419=) n.1395C>T c.1248C>T (p.Ile416=) n.3614C>T c.-994C>T (n.-994C>T) c.129C>T (p.Ile43=) c.955C>T c.816C>T (p.Ile272=) c.1281C>T (p.Ile427=) | |
| 13 | g.23355355G>C | CA387549480 | SACS | c.1257C>G (p.Ile419Met) n.1395C>G c.1248C>G (p.Ile416Met) n.3614C>G c.-994C>G (n.-994C>G) c.129C>G (p.Ile43Met) c.955C>G c.816C>G (p.Ile272Met) c.1281C>G (p.Ile427Met) | |
| 13 | g.23355355G>T | CA483164505 | SACS | c.1257C>A (p.Ile419=) n.1395C>A c.1248C>A (p.Ile416=) n.3614C>A c.-994C>A (n.-994C>A) c.129C>A (p.Ile43=) c.955C>A c.816C>A (p.Ile272=) c.1281C>A (p.Ile427=) | |
| 13 | g.23355356del | CA2580086861 | SACS | c.1256del (p.Ile419ThrfsTer4) n.1394del c.1247del (p.Ile416ThrfsTer4) n.3613del c.-995del (n.-995del) c.128del (p.Ile43ThrfsTer4) c.954del c.815del (p.Ile272ThrfsTer4) c.1280del (p.Ile427ThrfsTer4) | ClinVar |
| 13 | g.23355356A>C | CA387549492 | SACS | c.1256T>G (p.Ile419Ser) n.1394T>G c.1247T>G (p.Ile416Ser) n.3613T>G c.-995T>G (n.-995T>G) c.128T>G (p.Ile43Ser) c.954T>G c.815T>G (p.Ile272Ser) c.1280T>G (p.Ile427Ser) | |
| 13 | g.23355356A>G | CA387549485 | SACS | c.1256T>C (p.Ile419Thr) n.1394T>C c.1247T>C (p.Ile416Thr) n.3613T>C c.-995T>C (n.-995T>C) c.128T>C (p.Ile43Thr) c.954T>C c.815T>C (p.Ile272Thr) c.1280T>C (p.Ile427Thr) | |
| 13 | g.23355356A>T | CA387549489 | SACS | c.1256T>A (p.Ile419Asn) n.1394T>A c.1247T>A (p.Ile416Asn) n.3613T>A c.-995T>A (n.-995T>A) c.128T>A (p.Ile43Asn) c.954T>A c.815T>A (p.Ile272Asn) c.1280T>A (p.Ile427Asn) | |
| 13 | g.23355357T>A | CA387549497 | SACS | c.1255A>T (p.Ile419Phe) n.1393A>T c.1246A>T (p.Ile416Phe) n.3612A>T c.-996A>T (n.-996A>T) c.127A>T (p.Ile43Phe) c.953A>T c.814A>T (p.Ile272Phe) c.1279A>T (p.Ile427Phe) | |
| 13 | g.23355357T>C | CA6911942 | SACS | c.1255A>G (p.Ile419Val) n.1393A>G c.1246A>G (p.Ile416Val) n.3612A>G c.-996A>G (n.-996A>G) c.127A>G (p.Ile43Val) c.953A>G c.814A>G (p.Ile272Val) c.1279A>G (p.Ile427Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355357T>G | CA387549501 | SACS | c.1255A>C (p.Ile419Leu) n.1393A>C c.1246A>C (p.Ile416Leu) n.3612A>C c.-996A>C (n.-996A>C) c.127A>C (p.Ile43Leu) c.953A>C c.814A>C (p.Ile272Leu) c.1279A>C (p.Ile427Leu) | |
| 13 | g.23355357T= | CA2078658578 | SACS | c.1255A= (p.Ile419=) n.1393A= c.1246A= (p.Ile416=) n.3612A= c.-996A= (n.-996A=) c.127A= (p.Ile43=) c.953A= c.814A= (p.Ile272=) c.1279A= (p.Ile427=) | |
| 13 | g.23355358T>A | CA483164507 | SACS | c.1254A>T (p.Pro418=) n.1392A>T c.1245A>T (p.Pro415=) n.3611A>T c.-997A>T (n.-997A>T) c.126A>T (p.Pro42=) c.952A>T c.813A>T (p.Pro271=) c.1278A>T (p.Pro426=) | |
| 13 | g.23355358T>C | CA483164509 | SACS | c.1254A>G (p.Pro418=) n.1392A>G c.1245A>G (p.Pro415=) n.3611A>G c.-997A>G (n.-997A>G) c.126A>G (p.Pro42=) c.952A>G c.813A>G (p.Pro271=) c.1278A>G (p.Pro426=) | ClinVar dbSNP |
| 13 | g.23355358T>G | CA6911943 | SACS | c.1254A>C (p.Pro418=) n.1392A>C c.1245A>C (p.Pro415=) n.3611A>C c.-997A>C (n.-997A>C) c.126A>C (p.Pro42=) c.952A>C c.813A>C (p.Pro271=) c.1278A>C (p.Pro426=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355358T= | CA2078658581 | SACS | c.1254A= (p.Pro418=) n.1392A= c.1245A= (p.Pro415=) n.3611A= c.-997A= (n.-997A=) c.126A= (p.Pro42=) c.952A= c.813A= (p.Pro271=) c.1278A= (p.Pro426=) | |
| 13 | g.23355359G>A | CA387549507 | SACS | c.1253C>T (p.Pro418Leu) n.1391C>T c.1244C>T (p.Pro415Leu) n.3610C>T c.-998C>T (n.-998C>T) c.125C>T (p.Pro42Leu) c.951C>T c.812C>T (p.Pro271Leu) c.1277C>T (p.Pro426Leu) | gnomAD v4 COSMIC COSMIC |
| 13 | g.23355359G>C | CA387549508 | SACS | c.1253C>G (p.Pro418Arg) n.1391C>G c.1244C>G (p.Pro415Arg) n.3610C>G c.-998C>G (n.-998C>G) c.125C>G (p.Pro42Arg) c.951C>G c.812C>G (p.Pro271Arg) c.1277C>G (p.Pro426Arg) | |
| 13 | g.23355359G>T | CA387549511 | SACS | c.1253C>A (p.Pro418Gln) n.1391C>A c.1244C>A (p.Pro415Gln) n.3610C>A c.-998C>A (n.-998C>A) c.125C>A (p.Pro42Gln) c.951C>A c.812C>A (p.Pro271Gln) c.1277C>A (p.Pro426Gln) | |
| 13 | g.23355360G>A | CA387549515 | SACS | c.1252C>T (p.Pro418Ser) n.1390C>T c.1243C>T (p.Pro415Ser) n.3609C>T c.-999C>T (n.-999C>T) c.124C>T (p.Pro42Ser) c.950C>T c.811C>T (p.Pro271Ser) c.1276C>T (p.Pro426Ser) | COSMIC COSMIC |
| 13 | g.23355360G>C | CA387549517 | SACS | c.1252C>G (p.Pro418Ala) n.1390C>G c.1243C>G (p.Pro415Ala) n.3609C>G c.-999C>G (n.-999C>G) c.124C>G (p.Pro42Ala) c.950C>G c.811C>G (p.Pro271Ala) c.1276C>G (p.Pro426Ala) | ClinVar |
| 13 | g.23355360G>T | CA387549520 | SACS | c.1252C>A (p.Pro418Thr) n.1390C>A c.1243C>A (p.Pro415Thr) n.3609C>A c.-999C>A (n.-999C>A) c.124C>A (p.Pro42Thr) c.950C>A c.811C>A (p.Pro271Thr) c.1276C>A (p.Pro426Thr) | |
| 13 | g.23355361G>A | CA483164513 | SACS | c.1251C>T (p.Val417=) n.1389C>T c.1242C>T (p.Val414=) n.3608C>T c.-1000C>T (n.-1000C>T) c.123C>T (p.Val41=) c.949C>T c.810C>T (p.Val270=) c.1275C>T (p.Val425=) | |
| 13 | g.23355361G>C | CA483164514 | SACS | c.1251C>G (p.Val417=) n.1389C>G c.1242C>G (p.Val414=) n.3608C>G c.-1000C>G (n.-1000C>G) c.123C>G (p.Val41=) c.949C>G c.810C>G (p.Val270=) c.1275C>G (p.Val425=) | |
| 13 | g.23355361G= | CA2078658583 | SACS | c.1251C= (p.Val417=) n.1389C= c.1242C= (p.Val414=) n.3608C= c.-1000C= (n.-1000C=) c.123C= (p.Val41=) c.949C= c.810C= (p.Val270=) c.1275C= (p.Val425=) | |
| 13 | g.23355361G>T | CA6911944 | SACS | c.1251C>A (p.Val417=) n.1389C>A c.1242C>A (p.Val414=) n.3608C>A c.-1000C>A (n.-1000C>A) c.123C>A (p.Val41=) c.949C>A c.810C>A (p.Val270=) c.1275C>A (p.Val425=) | dbSNP ExAC gnomAD v2 |
| 13 | g.23355362A>C | CA387549527 | SACS | c.1250T>G (p.Val417Gly) n.1388T>G c.1241T>G (p.Val414Gly) n.3607T>G c.-1001T>G (n.-1001T>G) c.122T>G (p.Val41Gly) c.948T>G c.809T>G (p.Val270Gly) c.1274T>G (p.Val425Gly) |