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.99881075G>A | CA341317809 | AGL | c.1900-1G>A (n.1900-1G>A) n.2111-1G>A c.1852-1G>A (n.1852-1G>A) c.1849-1G>A (n.1849-1G>A) c.160-1G>A (n.160-1G>A) | |
| 1 | g.99881075G>C | CA341317810 | AGL | c.1900-1G>C (n.1900-1G>C) n.2111-1G>C c.1852-1G>C (n.1852-1G>C) c.1849-1G>C (n.1849-1G>C) c.160-1G>C (n.160-1G>C) | |
| 1 | g.99881075G>T | CA341317808 | AGL | c.1900-1G>T (n.1900-1G>T) n.2111-1G>T c.1852-1G>T (n.1852-1G>T) c.1849-1G>T (n.1849-1G>T) c.160-1G>T (n.160-1G>T) | |
| 1 | g.99881076C>A | CA341317814 | AGL | c.1900C>A (p.His634Asn) n.2111C>A c.1852C>A (p.His618Asn) c.1849C>A (p.His617Asn) c.160C>A (p.His54Asn) | |
| 1 | g.99881076C>G | CA341317812 | AGL | c.1900C>G (p.His634Asp) n.2111C>G c.1852C>G (p.His618Asp) c.1849C>G (p.His617Asp) c.160C>G (p.His54Asp) | |
| 1 | g.99881076C>T | CA341317816 | AGL | c.1900C>T (p.His634Tyr) n.2111C>T c.1852C>T (p.His618Tyr) c.1849C>T (p.His617Tyr) c.160C>T (p.His54Tyr) | gnomAD v4 |
| 1 | g.99881076_99881079dup | CA2646735753 | AGL | c.1900_1903dup (p.Arg635ThrfsTer2) n.2111_2114dup c.1852_1855dup (p.Arg619ThrfsTer2) c.1849_1852dup (p.Arg618ThrfsTer2) c.160_163dup (p.Arg55ThrfsTer2) | gnomAD v4 |
| 1 | g.99881077A= | CA1143380036 | AGL | c.1901A= (p.His634=) n.2112A= c.1853A= (p.His618=) c.1850A= (p.His617=) c.161A= (p.His54=) | |
| 1 | g.99881077A>C | CA341317817 | AGL | c.1901A>C (p.His634Pro) n.2112A>C c.1853A>C (p.His618Pro) c.1850A>C (p.His617Pro) c.161A>C (p.His54Pro) | |
| 1 | g.99881077A>G | CA341317819 | AGL | c.1901A>G (p.His634Arg) n.2112A>G c.1853A>G (p.His618Arg) c.1850A>G (p.His617Arg) c.161A>G (p.His54Arg) | dbSNP gnomAD v4 |
| 1 | g.99881077A>T | CA966637 | AGL | c.1901A>T (p.His634Leu) n.2112A>T c.1853A>T (p.His618Leu) c.1850A>T (p.His617Leu) c.161A>T (p.His54Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881078T>A | CA341317822 | AGL | c.1902T>A (p.His634Gln) n.2113T>A c.1854T>A (p.His618Gln) c.1851T>A (p.His617Gln) c.162T>A (p.His54Gln) | |
| 1 | g.99881078T>C | CA419314133 | AGL | c.1902T>C (p.His634=) n.2113T>C c.1854T>C (p.His618=) c.1851T>C (p.His617=) c.162T>C (p.His54=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881078T>G | CA341317823 | AGL | c.1902T>G (p.His634Gln) n.2113T>G c.1854T>G (p.His618Gln) c.1851T>G (p.His617Gln) c.162T>G (p.His54Gln) | |
| 1 | g.99881079A= | CA1183929186 | AGL | c.1903A= (p.Arg635=) n.2114A= c.1855A= (p.Arg619=) c.1852A= (p.Arg618=) c.163A= (p.Arg55=) | |
| 1 | g.99881079A>C | CA419314134 | AGL | c.1903A>C (p.Arg635=) n.2114A>C c.1855A>C (p.Arg619=) c.1852A>C (p.Arg618=) c.163A>C (p.Arg55=) | |
| 1 | g.99881079A>G | CA966638 | AGL | c.1903A>G (p.Arg635Gly) n.2114A>G c.1855A>G (p.Arg619Gly) c.1852A>G (p.Arg618Gly) c.163A>G (p.Arg55Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881079A>T | CA341317832 | AGL | c.1903A>T (p.Arg635Ter) n.2114A>T c.1855A>T (p.Arg619Ter) c.1852A>T (p.Arg618Ter) c.163A>T (p.Arg55Ter) | |
| 1 | g.99881080G>A | CA341317835 | AGL | c.1904G>A (p.Arg635Lys) n.2115G>A c.1856G>A (p.Arg619Lys) c.1853G>A (p.Arg618Lys) c.164G>A (p.Arg55Lys) | |
| 1 | g.99881080G>C | CA341317836 | AGL | c.1904G>C (p.Arg635Thr) n.2115G>C c.1856G>C (p.Arg619Thr) c.1853G>C (p.Arg618Thr) c.164G>C (p.Arg55Thr) | |
| 1 | g.99881080G>T | CA341317838 | AGL | c.1904G>T (p.Arg635Ile) n.2115G>T c.1856G>T (p.Arg619Ile) c.1853G>T (p.Arg618Ile) c.164G>T (p.Arg55Ile) | |
| 1 | g.99881081A= | CA1183929187 | AGL | c.1905A= (p.Arg635=) n.2116A= c.1857A= (p.Arg619=) c.1854A= (p.Arg618=) c.165A= (p.Arg55=) | |
| 1 | g.99881081A>C | CA341317840 | AGL | c.1905A>C (p.Arg635Ser) n.2116A>C c.1857A>C (p.Arg619Ser) c.1854A>C (p.Arg618Ser) c.165A>C (p.Arg55Ser) | |
| 1 | g.99881081A>G | CA419314135 | AGL | c.1905A>G (p.Arg635=) n.2116A>G c.1857A>G (p.Arg619=) c.1854A>G (p.Arg618=) c.165A>G (p.Arg55=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881081A>T | CA341317841 | AGL | c.1905A>T (p.Arg635Ser) n.2116A>T c.1857A>T (p.Arg619Ser) c.1854A>T (p.Arg618Ser) c.165A>T (p.Arg55Ser) | |
| 1 | g.99881082T>A | CA341317845 | AGL | c.1906T>A (p.Ser636Thr) n.2117T>A c.1858T>A (p.Ser620Thr) c.1855T>A (p.Ser619Thr) c.166T>A (p.Ser56Thr) | |
| 1 | g.99881082T>C | CA341317843 | AGL | c.1906T>C (p.Ser636Pro) n.2117T>C c.1858T>C (p.Ser620Pro) c.1855T>C (p.Ser619Pro) c.166T>C (p.Ser56Pro) | |
| 1 | g.99881082T>G | CA341317844 | AGL | c.1906T>G (p.Ser636Ala) n.2117T>G c.1858T>G (p.Ser620Ala) c.1855T>G (p.Ser619Ala) c.166T>G (p.Ser56Ala) | |
| 1 | g.99881083C>A | CA341317846 | AGL | c.1907C>A (p.Ser636Ter) n.2118C>A c.1859C>A (p.Ser620Ter) c.1856C>A (p.Ser619Ter) c.167C>A (p.Ser56Ter) | |
| 1 | g.99881083C>G | CA341317847 | AGL | c.1907C>G (p.Ser636Ter) n.2118C>G c.1859C>G (p.Ser620Ter) c.1856C>G (p.Ser619Ter) c.167C>G (p.Ser56Ter) | ClinVar |
| 1 | g.99881083C>T | CA341317849 | AGL | c.1907C>T (p.Ser636Leu) n.2118C>T c.1859C>T (p.Ser620Leu) c.1856C>T (p.Ser619Leu) c.167C>T (p.Ser56Leu) | |
| 1 | g.99881084A= | CA1142008749 | AGL | c.1908A= (p.Ser636=) n.2119A= c.1860A= (p.Ser620=) c.1857A= (p.Ser619=) c.168A= (p.Ser56=) | |
| 1 | g.99881084A>C | CA419314136 | AGL | c.1908A>C (p.Ser636=) n.2119A>C c.1860A>C (p.Ser620=) c.1857A>C (p.Ser619=) c.168A>C (p.Ser56=) | |
| 1 | g.99881084A>G | CA966639 | AGL | c.1908A>G (p.Ser636=) n.2119A>G c.1860A>G (p.Ser620=) c.1857A>G (p.Ser619=) c.168A>G (p.Ser56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881084A>T | CA419314137 | AGL | c.1908A>T (p.Ser636=) n.2119A>T c.1860A>T (p.Ser620=) c.1857A>T (p.Ser619=) c.168A>T (p.Ser56=) | |
| 1 | g.99881085G>A | CA966640 | AGL | c.1909G>A (p.Ala637Thr) n.2120G>A c.1861G>A (p.Ala621Thr) c.1858G>A (p.Ala620Thr) c.169G>A (p.Ala57Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881085G>C | CA341317856 | AGL | c.1909G>C (p.Ala637Pro) n.2120G>C c.1861G>C (p.Ala621Pro) c.1858G>C (p.Ala620Pro) c.169G>C (p.Ala57Pro) | |
| 1 | g.99881085G= | CA1143866155 | AGL | c.1909G= (p.Ala637=) n.2120G= c.1861G= (p.Ala621=) c.1858G= (p.Ala620=) c.169G= (p.Ala57=) | |
| 1 | g.99881085G>T | CA341317858 | AGL | c.1909G>T (p.Ala637Ser) n.2120G>T c.1861G>T (p.Ala621Ser) c.1858G>T (p.Ala620Ser) c.169G>T (p.Ala57Ser) | |
| 1 | g.99881086C>A | CA341317860 | AGL | c.1910C>A (p.Ala637Glu) n.2121C>A c.1862C>A (p.Ala621Glu) c.1859C>A (p.Ala620Glu) c.170C>A (p.Ala57Glu) | |
| 1 | g.99881086C= | CA1183929188 | AGL | c.1910C= (p.Ala637=) n.2121C= c.1862C= (p.Ala621=) c.1859C= (p.Ala620=) c.170C= (p.Ala57=) | |
| 1 | g.99881086C>G | CA341317861 | AGL | c.1910C>G (p.Ala637Gly) n.2121C>G c.1862C>G (p.Ala621Gly) c.1859C>G (p.Ala620Gly) c.170C>G (p.Ala57Gly) | |
| 1 | g.99881086C>T | CA341317863 | AGL | c.1910C>T (p.Ala637Val) n.2121C>T c.1862C>T (p.Ala621Val) c.1859C>T (p.Ala620Val) c.170C>T (p.Ala57Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.99881087G>A | CA966641 | AGL | c.1911G>A (p.Ala637=) n.2122G>A c.1863G>A (p.Ala621=) c.1860G>A (p.Ala620=) c.171G>A (p.Ala57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881087G>C | CA419314138 | AGL | c.1911G>C (p.Ala637=) n.2122G>C c.1863G>C (p.Ala621=) c.1860G>C (p.Ala620=) c.171G>C (p.Ala57=) | |
| 1 | g.99881087G= | CA1183929189 | AGL | c.1911G= (p.Ala637=) n.2122G= c.1863G= (p.Ala621=) c.1860G= (p.Ala620=) c.171G= (p.Ala57=) | |
| 1 | g.99881087G>T | CA419314139 | AGL | c.1911G>T (p.Ala637=) n.2122G>T c.1863G>T (p.Ala621=) c.1860G>T (p.Ala620=) c.171G>T (p.Ala57=) | |
| 1 | g.99881088T>A | CA341317868 | AGL | c.1912T>A (p.Tyr638Asn) n.2123T>A c.1864T>A (p.Tyr622Asn) c.1861T>A (p.Tyr621Asn) c.172T>A (p.Tyr58Asn) | |
| 1 | g.99881088T>C | CA966642 | AGL | c.1912T>C (p.Tyr638His) n.2123T>C c.1864T>C (p.Tyr622His) c.1861T>C (p.Tyr621His) c.172T>C (p.Tyr58His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881088T>G | CA341317866 | AGL | c.1912T>G (p.Tyr638Asp) n.2123T>G c.1864T>G (p.Tyr622Asp) c.1861T>G (p.Tyr621Asp) c.172T>G (p.Tyr58Asp) |