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 |
|---|---|---|---|---|---|
| 1 | g.99912482T>A | CA341338952 | AGL | c.3914T>A (p.Ile1305Asn) n.4125T>A c.3866T>A (p.Ile1289Asn) c.3863T>A (p.Ile1288Asn) c.2174T>A (p.Ile725Asn) | |
| 1 | g.99912482T>C | CA341338954 | AGL | c.3914T>C (p.Ile1305Thr) n.4125T>C c.3866T>C (p.Ile1289Thr) c.3863T>C (p.Ile1288Thr) c.2174T>C (p.Ile725Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.99912482T>G | CA341338951 | AGL | c.3914T>G (p.Ile1305Ser) n.4125T>G c.3866T>G (p.Ile1289Ser) c.3863T>G (p.Ile1288Ser) c.2174T>G (p.Ile725Ser) | |
| 1 | g.99912482T= | CA1183943127 | AGL | c.3914T= (p.Ile1305=) n.4125T= c.3866T= (p.Ile1289=) c.3863T= (p.Ile1288=) c.2174T= (p.Ile725=) | |
| 1 | g.99912483T>A | CA419092563 | AGL | c.3915T>A (p.Ile1305=) n.4126T>A c.3867T>A (p.Ile1289=) c.3864T>A (p.Ile1288=) c.2175T>A (p.Ile725=) | |
| 1 | g.99912483T>C | CA419092565 | AGL | c.3915T>C (p.Ile1305=) n.4126T>C c.3867T>C (p.Ile1289=) c.3864T>C (p.Ile1288=) c.2175T>C (p.Ile725=) | gnomAD v4 |
| 1 | g.99912483T>G | CA341338955 | AGL | c.3915T>G (p.Ile1305Met) n.4126T>G c.3867T>G (p.Ile1289Met) c.3864T>G (p.Ile1288Met) c.2175T>G (p.Ile725Met) | |
| 1 | g.99912484T>A | CA341338960 | AGL | c.3916T>A (p.Phe1306Ile) n.4127T>A c.3868T>A (p.Phe1290Ile) c.3865T>A (p.Phe1289Ile) c.2176T>A (p.Phe726Ile) | |
| 1 | g.99912484T>C | CA341338957 | AGL | c.3916T>C (p.Phe1306Leu) n.4127T>C c.3868T>C (p.Phe1290Leu) c.3865T>C (p.Phe1289Leu) c.2176T>C (p.Phe726Leu) | |
| 1 | g.99912484T>G | CA341338958 | AGL | c.3916T>G (p.Phe1306Val) n.4127T>G c.3868T>G (p.Phe1290Val) c.3865T>G (p.Phe1289Val) c.2176T>G (p.Phe726Val) | |
| 1 | g.99912485T>A | CA341338968 | AGL | c.3917T>A (p.Phe1306Tyr) n.4128T>A c.3869T>A (p.Phe1290Tyr) c.3866T>A (p.Phe1289Tyr) c.2177T>A (p.Phe726Tyr) | |
| 1 | g.99912485T>C | CA27555392 | AGL | c.3917T>C (p.Phe1306Ser) n.4128T>C c.3869T>C (p.Phe1290Ser) c.3866T>C (p.Phe1289Ser) c.2177T>C (p.Phe726Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99912485T>G | CA341338971 | AGL | c.3917T>G (p.Phe1306Cys) n.4128T>G c.3869T>G (p.Phe1290Cys) c.3866T>G (p.Phe1289Cys) c.2177T>G (p.Phe726Cys) | |
| 1 | g.99912485T= | CA1140611855 | AGL | c.3917T= (p.Phe1306=) n.4128T= c.3869T= (p.Phe1290=) c.3866T= (p.Phe1289=) c.2177T= (p.Phe726=) | |
| 1 | g.99912486C>A | CA341338972 | AGL | c.3918C>A (p.Phe1306Leu) n.4129C>A c.3870C>A (p.Phe1290Leu) c.3867C>A (p.Phe1289Leu) c.2178C>A (p.Phe726Leu) | |
| 1 | g.99912486C= | CA1147810722 | AGL | c.3918C= (p.Phe1306=) n.4129C= c.3870C= (p.Phe1290=) c.3867C= (p.Phe1289=) c.2178C= (p.Phe726=) | |
| 1 | g.99912486C>G | CA341338974 | AGL | c.3918C>G (p.Phe1306Leu) n.4129C>G c.3870C>G (p.Phe1290Leu) c.3867C>G (p.Phe1289Leu) c.2178C>G (p.Phe726Leu) | |
| 1 | g.99912486C>T | CA967261 | AGL | c.3918C>T (p.Phe1306=) n.4129C>T c.3870C>T (p.Phe1290=) c.3867C>T (p.Phe1289=) c.2178C>T (p.Phe726=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99912487C>A | CA341338975 | AGL | c.3919C>A (p.Pro1307Thr) n.4130C>A c.3871C>A (p.Pro1291Thr) c.3868C>A (p.Pro1290Thr) c.2179C>A (p.Pro727Thr) | |
| 1 | g.99912487C>G | CA341338976 | AGL | c.3919C>G (p.Pro1307Ala) n.4130C>G c.3871C>G (p.Pro1291Ala) c.3868C>G (p.Pro1290Ala) c.2179C>G (p.Pro727Ala) | |
| 1 | g.99912487C>T | CA341338983 | AGL | c.3919C>T (p.Pro1307Ser) n.4130C>T c.3871C>T (p.Pro1291Ser) c.3868C>T (p.Pro1290Ser) c.2179C>T (p.Pro727Ser) | COSMIC COSMIC |
| 1 | g.99912488C>A | CA341338986 | AGL | c.3920C>A (p.Pro1307His) n.4131C>A c.3872C>A (p.Pro1291His) c.3869C>A (p.Pro1290His) c.2180C>A (p.Pro727His) | |
| 1 | g.99912488C= | CA1183943135 | AGL | c.3920C= (p.Pro1307=) n.4131C= c.3872C= (p.Pro1291=) c.3869C= (p.Pro1290=) c.2180C= (p.Pro727=) | |
| 1 | g.99912488C>G | CA27555401 | AGL | c.3920C>G (p.Pro1307Arg) n.4131C>G c.3872C>G (p.Pro1291Arg) c.3869C>G (p.Pro1290Arg) c.2180C>G (p.Pro727Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99912488C>T | CA341338984 | AGL | c.3920C>T (p.Pro1307Leu) n.4131C>T c.3872C>T (p.Pro1291Leu) c.3869C>T (p.Pro1290Leu) c.2180C>T (p.Pro727Leu) | gnomAD v4 |
| 1 | g.99912489T>A | CA419092591 | AGL | c.3921T>A (p.Pro1307=) n.4132T>A c.3873T>A (p.Pro1291=) c.3870T>A (p.Pro1290=) c.2181T>A (p.Pro727=) | |
| 1 | g.99912489T>C | CA419092594 | AGL | c.3921T>C (p.Pro1307=) n.4132T>C c.3873T>C (p.Pro1291=) c.3870T>C (p.Pro1290=) c.2181T>C (p.Pro727=) | |
| 1 | g.99912489T>G | CA419092597 | AGL | c.3921T>G (p.Pro1307=) n.4132T>G c.3873T>G (p.Pro1291=) c.3870T>G (p.Pro1290=) c.2181T>G (p.Pro727=) | ClinVar gnomAD v4 |
| 1 | g.99912490T>A | CA341338988 | AGL | c.3922T>A (p.Tyr1308Asn) n.4133T>A c.3874T>A (p.Tyr1292Asn) c.3871T>A (p.Tyr1291Asn) c.2182T>A (p.Tyr728Asn) | |
| 1 | g.99912490T>C | CA341338991 | AGL | c.3922T>C (p.Tyr1308His) n.4133T>C c.3874T>C (p.Tyr1292His) c.3871T>C (p.Tyr1291His) c.2182T>C (p.Tyr728His) | |
| 1 | g.99912490T>G | CA341338994 | AGL | c.3922T>G (p.Tyr1308Asp) n.4133T>G c.3874T>G (p.Tyr1292Asp) c.3871T>G (p.Tyr1291Asp) c.2182T>G (p.Tyr728Asp) | |
| 1 | g.99912491A>C | CA341339000 | AGL | c.3923A>C (p.Tyr1308Ser) n.4134A>C c.3875A>C (p.Tyr1292Ser) c.3872A>C (p.Tyr1291Ser) c.2183A>C (p.Tyr728Ser) | |
| 1 | g.99912491A>G | CA341339002 | AGL | c.3923A>G (p.Tyr1308Cys) n.4134A>G c.3875A>G (p.Tyr1292Cys) c.3872A>G (p.Tyr1291Cys) c.2183A>G (p.Tyr728Cys) | ClinVar gnomAD v4 |
| 1 | g.99912491A>T | CA341339003 | AGL | c.3923A>T (p.Tyr1308Phe) n.4134A>T c.3875A>T (p.Tyr1292Phe) c.3872A>T (p.Tyr1291Phe) c.2183A>T (p.Tyr728Phe) | |
| 1 | g.99912493_99912495del | CA2580063384 | AGL | c.3925_3927del (p.His1309del) n.4136_4138del c.3877_3879del (p.His1293del) c.3874_3876del (p.His1292del) c.2185_2187del (p.His729del) | ClinVar |
| 1 | g.99912492T>A | CA341339004 | AGL | c.3924T>A (p.Tyr1308Ter) n.4135T>A c.3876T>A (p.Tyr1292Ter) c.3873T>A (p.Tyr1291Ter) c.2184T>A (p.Tyr728Ter) | |
| 1 | g.99912492T>C | CA967262 | AGL | c.3924T>C (p.Tyr1308=) n.4135T>C c.3876T>C (p.Tyr1292=) c.3873T>C (p.Tyr1291=) c.2184T>C (p.Tyr728=) | ClinVar dbSNP ExAC |
| 1 | g.99912492T>G | CA341339005 | AGL | c.3924T>G (p.Tyr1308Ter) n.4135T>G c.3876T>G (p.Tyr1292Ter) c.3873T>G (p.Tyr1291Ter) c.2184T>G (p.Tyr728Ter) | |
| 1 | g.99912492T= | CA1141860860 | AGL | c.3924T= (p.Tyr1308=) n.4135T= c.3876T= (p.Tyr1292=) c.3873T= (p.Tyr1291=) c.2184T= (p.Tyr728=) | |
| 1 | g.99912493C>A | CA341339007 | AGL | c.3925C>A (p.His1309Asn) n.4136C>A c.3877C>A (p.His1293Asn) c.3874C>A (p.His1292Asn) c.2185C>A (p.His729Asn) | gnomAD v4 |
| 1 | g.99912493C>G | CA341339008 | AGL | c.3925C>G (p.His1309Asp) n.4136C>G c.3877C>G (p.His1293Asp) c.3874C>G (p.His1292Asp) c.2185C>G (p.His729Asp) | |
| 1 | g.99912493C>T | CA341339009 | AGL | c.3925C>T (p.His1309Tyr) n.4136C>T c.3877C>T (p.His1293Tyr) c.3874C>T (p.His1292Tyr) c.2185C>T (p.His729Tyr) | gnomAD v4 COSMIC COSMIC |
| 1 | g.99912494A= | CA1183943139 | AGL | c.3926A= (p.His1309=) n.4137A= c.3878A= (p.His1293=) c.3875A= (p.His1292=) c.2186A= (p.His729=) | |
| 1 | g.99912494A>C | CA341339013 | AGL | c.3926A>C (p.His1309Pro) n.4137A>C c.3878A>C (p.His1293Pro) c.3875A>C (p.His1292Pro) c.2186A>C (p.His729Pro) | |
| 1 | g.99912494A>G | CA341339021 | AGL | c.3926A>G (p.His1309Arg) n.4137A>G c.3878A>G (p.His1293Arg) c.3875A>G (p.His1292Arg) c.2186A>G (p.His729Arg) | gnomAD v4 |
| 1 | g.99912494A>T | CA341339010 | AGL | c.3926A>T (p.His1309Leu) n.4137A>T c.3878A>T (p.His1293Leu) c.3875A>T (p.His1292Leu) c.2186A>T (p.His729Leu) | |
| 1 | g.99912495T>A | CA341339024 | AGL | c.3927T>A (p.His1309Gln) n.4138T>A c.3879T>A (p.His1293Gln) c.3876T>A (p.His1292Gln) c.2187T>A (p.His729Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99912495T>C | CA419092619 | AGL | c.3927T>C (p.His1309=) n.4138T>C c.3879T>C (p.His1293=) c.3876T>C (p.His1292=) c.2187T>C (p.His729=) | |
| 1 | g.99912495T>G | CA341339030 | AGL | c.3927T>G (p.His1309Gln) n.4138T>G c.3879T>G (p.His1293Gln) c.3876T>G (p.His1292Gln) c.2187T>G (p.His729Gln) | |
| 1 | g.99912495T= | CA1183943143 | AGL | c.3927T= (p.His1309=) n.4138T= c.3879T= (p.His1293=) c.3876T= (p.His1292=) c.2187T= (p.His729=) |