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.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) | |
| 1 | g.99902722A>T | CA341334573 | AGL | c.3628A>T (p.Lys1210Ter) n.3839A>T c.3580A>T (p.Lys1194Ter) c.3577A>T (p.Lys1193Ter) c.1888A>T (p.Lys630Ter) | |
| 1 | g.99902723A>C | CA341334576 | AGL | c.3629A>C (p.Lys1210Thr) n.3840A>C c.3581A>C (p.Lys1194Thr) c.3578A>C (p.Lys1193Thr) c.1889A>C (p.Lys630Thr) | |
| 1 | g.99902723A>G | CA341334583 | AGL | c.3629A>G (p.Lys1210Arg) n.3840A>G c.3581A>G (p.Lys1194Arg) c.3578A>G (p.Lys1193Arg) c.1889A>G (p.Lys630Arg) | |
| 1 | g.99902723A>T | CA341334578 | AGL | c.3629A>T (p.Lys1210Ile) n.3840A>T c.3581A>T (p.Lys1194Ile) c.3578A>T (p.Lys1193Ile) c.1889A>T (p.Lys630Ile) | |
| 1 | g.99902724A= | CA1183938157 | AGL | c.3630A= (p.Lys1210=) n.3841A= c.3582A= (p.Lys1194=) c.3579A= (p.Lys1193=) c.1890A= (p.Lys630=) | |
| 1 | g.99902724A>C | CA341334590 | AGL | c.3630A>C (p.Lys1210Asn) n.3841A>C c.3582A>C (p.Lys1194Asn) c.3579A>C (p.Lys1193Asn) c.1890A>C (p.Lys630Asn) | |
| 1 | g.99902724A>G | CA419088995 | AGL | c.3630A>G (p.Lys1210=) n.3841A>G c.3582A>G (p.Lys1194=) c.3579A>G (p.Lys1193=) c.1890A>G (p.Lys630=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99902724A>T | CA341334592 | AGL | c.3630A>T (p.Lys1210Asn) n.3841A>T c.3582A>T (p.Lys1194Asn) c.3579A>T (p.Lys1193Asn) c.1890A>T (p.Lys630Asn) | |
| 1 | g.99902724_99902725insG | CA741014722 | AGL | c.3630_3631insG (p.His1211AlafsTer26) n.3841_3842insG c.3582_3583insG (p.His1195AlafsTer26) c.3579_3580insG (p.His1194AlafsTer26) c.1890_1891insG (p.His631AlafsTer26) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99902725C>A | CA341334597 | AGL | c.3631C>A (p.His1211Asn) n.3842C>A c.3583C>A (p.His1195Asn) c.3580C>A (p.His1194Asn) c.1891C>A (p.His631Asn) | |
| 1 | g.99902725C>G | CA341334601 | AGL | c.3631C>G (p.His1211Asp) n.3842C>G c.3583C>G (p.His1195Asp) c.3580C>G (p.His1194Asp) c.1891C>G (p.His631Asp) | |
| 1 | g.99902725C>T | CA341334606 | AGL | c.3631C>T (p.His1211Tyr) n.3842C>T c.3583C>T (p.His1195Tyr) c.3580C>T (p.His1194Tyr) c.1891C>T (p.His631Tyr) | |
| 1 | g.99902726A>C | CA341334611 | AGL | c.3632A>C (p.His1211Pro) n.3843A>C c.3584A>C (p.His1195Pro) c.3581A>C (p.His1194Pro) c.1892A>C (p.His631Pro) | |
| 1 | g.99902726A>G | CA341334617 | AGL | c.3632A>G (p.His1211Arg) n.3843A>G c.3584A>G (p.His1195Arg) c.3581A>G (p.His1194Arg) c.1892A>G (p.His631Arg) | gnomAD v4 |
| 1 | g.99902726A>T | CA341334616 | AGL | c.3632A>T (p.His1211Leu) n.3843A>T c.3584A>T (p.His1195Leu) c.3581A>T (p.His1194Leu) c.1892A>T (p.His631Leu) | |
| 1 | g.99902727C>A | CA341334621 | AGL | c.3633C>A (p.His1211Gln) n.3844C>A c.3585C>A (p.His1195Gln) c.3582C>A (p.His1194Gln) c.1893C>A (p.His631Gln) | dbSNP |
| 1 | g.99902727C= | CA1183938158 | AGL | c.3633C= (p.His1211=) n.3844C= c.3585C= (p.His1195=) c.3582C= (p.His1194=) c.1893C= (p.His631=) | |
| 1 | g.99902727C>G | CA341334628 | AGL | c.3633C>G (p.His1211Gln) n.3844C>G c.3585C>G (p.His1195Gln) c.3582C>G (p.His1194Gln) c.1893C>G (p.His631Gln) | |
| 1 | g.99902727C>T | CA967162 | AGL | c.3633C>T (p.His1211=) n.3844C>T c.3585C>T (p.His1195=) c.3582C>T (p.His1194=) c.1893C>T (p.His631=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99902728A= | CA1183938159 | AGL | c.3634A= (p.Met1212=) n.3845A= c.3586A= (p.Met1196=) c.3583A= (p.Met1195=) c.1894A= (p.Met632=) | |
| 1 | g.99902728A>C | CA341334647 | AGL | c.3634A>C (p.Met1212Leu) n.3845A>C c.3586A>C (p.Met1196Leu) c.3583A>C (p.Met1195Leu) c.1894A>C (p.Met632Leu) | gnomAD v4 |
| 1 | g.99902728A>G | CA341334650 | AGL | c.3634A>G (p.Met1212Val) n.3845A>G c.3586A>G (p.Met1196Val) c.3583A>G (p.Met1195Val) c.1894A>G (p.Met632Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99902728A>T | CA341334655 | AGL | c.3634A>T (p.Met1212Leu) n.3845A>T c.3586A>T (p.Met1196Leu) c.3583A>T (p.Met1195Leu) c.1894A>T (p.Met632Leu) | ClinVar dbSNP |
| 1 | g.99902729T>A | CA341334658 | AGL | c.3635T>A (p.Met1212Lys) n.3846T>A c.3587T>A (p.Met1196Lys) c.3584T>A (p.Met1195Lys) c.1895T>A (p.Met632Lys) | |
| 1 | g.99902729T>C | CA967163 | AGL | c.3635T>C (p.Met1212Thr) n.3846T>C c.3587T>C (p.Met1196Thr) c.3584T>C (p.Met1195Thr) c.1895T>C (p.Met632Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99902729T>G | CA341334667 | AGL | c.3635T>G (p.Met1212Arg) n.3846T>G c.3587T>G (p.Met1196Arg) c.3584T>G (p.Met1195Arg) c.1895T>G (p.Met632Arg) | gnomAD v4 |
| 1 | g.99902729T= | CA1183938160 | AGL | c.3635T= (p.Met1212=) n.3846T= c.3587T= (p.Met1196=) c.3584T= (p.Met1195=) c.1895T= (p.Met632=) | |
| 1 | g.99902730G>A | CA341334672 | AGL | c.3636G>A (p.Met1212Ile) n.3847G>A c.3588G>A (p.Met1196Ile) c.3585G>A (p.Met1195Ile) c.1896G>A (p.Met632Ile) | ClinVar dbSNP |