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.99902708A>C | CA341334396 | AGL | c.3614A>C (p.Gln1205Pro) n.3825A>C c.3566A>C (p.Gln1189Pro) c.3563A>C (p.Gln1188Pro) c.1874A>C (p.Gln625Pro) | |
| 1 | g.99902708A>G | CA341334405 | AGL | c.3614A>G (p.Gln1205Arg) n.3825A>G c.3566A>G (p.Gln1189Arg) c.3563A>G (p.Gln1188Arg) c.1874A>G (p.Gln625Arg) | COSMIC |
| 1 | g.99902708A>T | CA341334408 | AGL | c.3614A>T (p.Gln1205Leu) n.3825A>T c.3566A>T (p.Gln1189Leu) c.3563A>T (p.Gln1188Leu) c.1874A>T (p.Gln625Leu) | |
| 1 | g.99902709G>A | CA419088933 | AGL | c.3615G>A (p.Gln1205=) n.3826G>A c.3567G>A (p.Gln1189=) c.3564G>A (p.Gln1188=) c.1875G>A (p.Gln625=) | |
| 1 | g.99902709G>C | CA341334412 | AGL | c.3615G>C (p.Gln1205His) n.3826G>C c.3567G>C (p.Gln1189His) c.3564G>C (p.Gln1188His) c.1875G>C (p.Gln625His) | |
| 1 | g.99902709G>T | CA341334419 | AGL | c.3615G>T (p.Gln1205His) n.3826G>T c.3567G>T (p.Gln1189His) c.3564G>T (p.Gln1188His) c.1875G>T (p.Gln625His) | |
| 1 | g.99902710G>A | CA341334423 | AGL | c.3616G>A (p.Glu1206Lys) n.3827G>A c.3568G>A (p.Glu1190Lys) c.3565G>A (p.Glu1189Lys) c.1876G>A (p.Glu626Lys) | gnomAD v4 COSMIC COSMIC |
| 1 | g.99902710G>C | CA341334426 | AGL | c.3616G>C (p.Glu1206Gln) n.3827G>C c.3568G>C (p.Glu1190Gln) c.3565G>C (p.Glu1189Gln) c.1876G>C (p.Glu626Gln) | |
| 1 | g.99902710G>T | CA341334431 | AGL | c.3616G>T (p.Glu1206Ter) n.3827G>T c.3568G>T (p.Glu1190Ter) c.3565G>T (p.Glu1189Ter) c.1876G>T (p.Glu626Ter) | |
| 1 | g.99902711A>C | CA341334434 | AGL | c.3617A>C (p.Glu1206Ala) n.3828A>C c.3569A>C (p.Glu1190Ala) c.3566A>C (p.Glu1189Ala) c.1877A>C (p.Glu626Ala) | |
| 1 | g.99902711A>G | CA341334439 | AGL | c.3617A>G (p.Glu1206Gly) n.3828A>G c.3569A>G (p.Glu1190Gly) c.3566A>G (p.Glu1189Gly) c.1877A>G (p.Glu626Gly) | gnomAD v4 |
| 1 | g.99902711A>T | CA341334440 | AGL | c.3617A>T (p.Glu1206Val) n.3828A>T c.3569A>T (p.Glu1190Val) c.3566A>T (p.Glu1189Val) c.1877A>T (p.Glu626Val) | |
| 1 | g.99902712A>C | CA341334445 | AGL | c.3618A>C (p.Glu1206Asp) n.3829A>C c.3570A>C (p.Glu1190Asp) c.3567A>C (p.Glu1189Asp) c.1878A>C (p.Glu626Asp) | |
| 1 | g.99902712A>G | CA419088944 | AGL | c.3618A>G (p.Glu1206=) n.3829A>G c.3570A>G (p.Glu1190=) c.3567A>G (p.Glu1189=) c.1878A>G (p.Glu626=) | |
| 1 | g.99902712A>T | CA341334448 | AGL | c.3618A>T (p.Glu1206Asp) n.3829A>T c.3570A>T (p.Glu1190Asp) c.3567A>T (p.Glu1189Asp) c.1878A>T (p.Glu626Asp) | |
| 1 | g.99902713G>A | CA967161 | AGL | c.3619G>A (p.Ala1207Thr) n.3830G>A c.3571G>A (p.Ala1191Thr) c.3568G>A (p.Ala1190Thr) c.1879G>A (p.Ala627Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99902713G>C | CA341334449 | AGL | c.3619G>C (p.Ala1207Pro) n.3830G>C c.3571G>C (p.Ala1191Pro) c.3568G>C (p.Ala1190Pro) c.1879G>C (p.Ala627Pro) | |
| 1 | g.99902713G= | CA1140289154 | AGL | c.3619G= (p.Ala1207=) n.3830G= c.3571G= (p.Ala1191=) c.3568G= (p.Ala1190=) c.1879G= (p.Ala627=) | |
| 1 | g.99902713G>T | CA341334450 | AGL | c.3619G>T (p.Ala1207Ser) n.3830G>T c.3571G>T (p.Ala1191Ser) c.3568G>T (p.Ala1190Ser) c.1879G>T (p.Ala627Ser) | |
| 1 | g.99902714C>A | CA341334451 | AGL | c.3620C>A (p.Ala1207Glu) n.3831C>A c.3572C>A (p.Ala1191Glu) c.3569C>A (p.Ala1190Glu) c.1880C>A (p.Ala627Glu) | |
| 1 | g.99902714C>G | CA341334454 | AGL | c.3620C>G (p.Ala1207Gly) n.3831C>G c.3572C>G (p.Ala1191Gly) c.3569C>G (p.Ala1190Gly) c.1880C>G (p.Ala627Gly) | |
| 1 | g.99902714C>T | CA341334458 | AGL | c.3620C>T (p.Ala1207Val) n.3831C>T c.3572C>T (p.Ala1191Val) c.3569C>T (p.Ala1190Val) c.1880C>T (p.Ala627Val) | |
| 1 | g.99902715A>C | CA419088956 | AGL | c.3621A>C (p.Ala1207=) n.3832A>C c.3573A>C (p.Ala1191=) c.3570A>C (p.Ala1190=) c.1881A>C (p.Ala627=) | |
| 1 | g.99902715A>G | CA419088958 | AGL | c.3621A>G (p.Ala1207=) n.3832A>G c.3573A>G (p.Ala1191=) c.3570A>G (p.Ala1190=) c.1881A>G (p.Ala627=) | |
| 1 | g.99902715A>T | CA419088960 | AGL | c.3621A>T (p.Ala1207=) n.3832A>T c.3573A>T (p.Ala1191=) c.3570A>T (p.Ala1190=) c.1881A>T (p.Ala627=) | |
| 1 | g.99902716A>C | CA341334465 | AGL | c.3622A>C (p.Met1208Leu) n.3833A>C c.3574A>C (p.Met1192Leu) c.3571A>C (p.Met1191Leu) c.1882A>C (p.Met628Leu) | |
| 1 | g.99902716A>G | CA341334473 | AGL | c.3622A>G (p.Met1208Val) n.3833A>G c.3574A>G (p.Met1192Val) c.3571A>G (p.Met1191Val) c.1882A>G (p.Met628Val) | ClinVar gnomAD v4 |
| 1 | g.99902716A>T | CA341334474 | AGL | c.3622A>T (p.Met1208Leu) n.3833A>T c.3574A>T (p.Met1192Leu) c.3571A>T (p.Met1191Leu) c.1882A>T (p.Met628Leu) | |
| 1 | g.99902717T>A | CA341334480 | AGL | c.3623T>A (p.Met1208Lys) n.3834T>A c.3575T>A (p.Met1192Lys) c.3572T>A (p.Met1191Lys) c.1883T>A (p.Met628Lys) | |
| 1 | g.99902717T>C | CA341334495 | AGL | c.3623T>C (p.Met1208Thr) n.3834T>C c.3575T>C (p.Met1192Thr) c.3572T>C (p.Met1191Thr) c.1883T>C (p.Met628Thr) | dbSNP gnomAD v4 |
| 1 | g.99902717T>G | CA341334501 | AGL | c.3623T>G (p.Met1208Arg) n.3834T>G c.3575T>G (p.Met1192Arg) c.3572T>G (p.Met1191Arg) c.1883T>G (p.Met628Arg) | |
| 1 | g.99902717T= | CA1183938153 | AGL | c.3623T= (p.Met1208=) n.3834T= c.3575T= (p.Met1192=) c.3572T= (p.Met1191=) c.1883T= (p.Met628=) | |
| 1 | g.99902718G>A | CA341334503 | AGL | c.3624G>A (p.Met1208Ile) n.3835G>A c.3576G>A (p.Met1192Ile) c.3573G>A (p.Met1191Ile) c.1884G>A (p.Met628Ile) | |
| 1 | g.99902718G>C | CA341334516 | AGL | c.3624G>C (p.Met1208Ile) n.3835G>C c.3576G>C (p.Met1192Ile) c.3573G>C (p.Met1191Ile) c.1884G>C (p.Met628Ile) | |
| 1 | g.99902718G>T | CA341334525 | AGL | c.3624G>T (p.Met1208Ile) n.3835G>T c.3576G>T (p.Met1192Ile) c.3573G>T (p.Met1191Ile) c.1884G>T (p.Met628Ile) | |
| 1 | g.99902719C>A | CA341334535 | AGL | c.3625C>A (p.Gln1209Lys) n.3836C>A c.3577C>A (p.Gln1193Lys) c.3574C>A (p.Gln1192Lys) c.1885C>A (p.Gln629Lys) | |
| 1 | g.99902719C>G | CA341334531 | AGL | c.3625C>G (p.Gln1209Glu) n.3836C>G c.3577C>G (p.Gln1193Glu) c.3574C>G (p.Gln1192Glu) c.1885C>G (p.Gln629Glu) | |
| 1 | g.99902719C>T | CA341334533 | AGL | c.3625C>T (p.Gln1209Ter) n.3836C>T c.3577C>T (p.Gln1193Ter) c.3574C>T (p.Gln1192Ter) c.1885C>T (p.Gln629Ter) | gnomAD v4 |
| 1 | g.99902719_99902720delinsCA | CA1183938154 | AGL | c.3625_3626delinsCA (p.Gln1209=) n.3836_3837delinsCA c.3577_3578delinsCA (p.Gln1193=) c.3574_3575delinsCA (p.Gln1192=) c.1885_1886delinsCA (p.Gln629=) | |
| 1 | g.99902720A= | CA1183938155 | AGL | c.3626A= (p.Gln1209=) n.3837A= c.3578A= (p.Gln1193=) c.3575A= (p.Gln1192=) c.1886A= (p.Gln629=) | |
| 1 | g.99902720A>C | CA341334537 | AGL | c.3626A>C (p.Gln1209Pro) n.3837A>C c.3578A>C (p.Gln1193Pro) c.3575A>C (p.Gln1192Pro) c.1886A>C (p.Gln629Pro) | |
| 1 | g.99902720A>G | CA341334539 | AGL | c.3626A>G (p.Gln1209Arg) n.3837A>G c.3578A>G (p.Gln1193Arg) c.3575A>G (p.Gln1192Arg) c.1886A>G (p.Gln629Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99902720A>T | CA341334542 | AGL | c.3626A>T (p.Gln1209Leu) n.3837A>T c.3578A>T (p.Gln1193Leu) c.3575A>T (p.Gln1192Leu) c.1886A>T (p.Gln629Leu) | |
| 1 | g.99902724dup | CA645538195 | AGL | c.3630dup (p.His1211ThrfsTer26) n.3841dup c.3582dup (p.His1195ThrfsTer26) c.3579dup (p.His1194ThrfsTer26) c.1890dup (p.His631ThrfsTer26) | COSMIC COSMIC |
| 1 | g.99902724del | CA1183938156 | AGL | c.3630del (p.Lys1210AsnfsTer17) n.3841del c.3582del (p.Lys1194AsnfsTer17) c.3579del (p.Lys1193AsnfsTer17) c.1890del (p.Lys630AsnfsTer17) | ClinVar dbSNP |
| 1 | g.99902721A>C | CA341334549 | AGL | c.3627A>C (p.Gln1209His) n.3838A>C c.3579A>C (p.Gln1193His) c.3576A>C (p.Gln1192His) c.1887A>C (p.Gln629His) | |
| 1 | g.99902721A>G | CA419088977 | AGL | c.3627A>G (p.Gln1209=) n.3838A>G c.3579A>G (p.Gln1193=) c.3576A>G (p.Gln1192=) c.1887A>G (p.Gln629=) | |
| 1 | g.99902721A>T | CA341334563 | AGL | c.3627A>T (p.Gln1209His) n.3838A>T c.3579A>T (p.Gln1193His) c.3576A>T (p.Gln1192His) c.1887A>T (p.Gln629His) | |
| 1 | g.99902722A>C | CA341334571 | AGL | c.3628A>C (p.Lys1210Gln) n.3839A>C c.3580A>C (p.Lys1194Gln) c.3577A>C (p.Lys1193Gln) c.1888A>C (p.Lys630Gln) | |
| 1 | g.99902722A>G | CA341334572 | AGL | c.3628A>G (p.Lys1210Glu) n.3839A>G c.3580A>G (p.Lys1194Glu) c.3577A>G (p.Lys1193Glu) c.1888A>G (p.Lys630Glu) |