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 |
|---|---|---|---|---|---|
| 3 | g.32997320T>A | CA352000803 | GLB1 | c.1759A>T (p.Asn587Tyr) c.1366A>T (p.Asn456Tyr) c.1669A>T (p.Asn557Tyr) c.1903A>T (p.Asn635Tyr) c.1734+16736A>T (n.1734+16736A>T) | |
| 3 | g.32997320T>C | CA352000804 | GLB1 | c.1759A>G (p.Asn587Asp) c.1366A>G (p.Asn456Asp) c.1669A>G (p.Asn557Asp) c.1903A>G (p.Asn635Asp) c.1734+16736A>G (n.1734+16736A>G) | |
| 3 | g.32997320T>G | CA352000805 | GLB1 | c.1759A>C (p.Asn587His) c.1366A>C (p.Asn456His) c.1669A>C (p.Asn557His) c.1903A>C (p.Asn635His) c.1734+16736A>C (n.1734+16736A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.32997320T= | CA1355976988 | GLB1 | c.1759A= (p.Asn587=) c.1366A= (p.Asn456=) c.1669A= (p.Asn557=) c.1903A= (p.Asn635=) c.1734+16736A= (n.1734+16736A=) | |
| 3 | g.32997321A>C | CA352000806 | GLB1 | c.1758T>G (p.Phe586Leu) c.1365T>G (p.Phe455Leu) c.1668T>G (p.Phe556Leu) c.1902T>G (p.Phe634Leu) c.1734+16735T>G (n.1734+16735T>G) | |
| 3 | g.32997321A>G | CA432960441 | GLB1 | c.1758T>C (p.Phe586=) c.1365T>C (p.Phe455=) c.1668T>C (p.Phe556=) c.1902T>C (p.Phe634=) c.1734+16735T>C (n.1734+16735T>C) | |
| 3 | g.32997321A>T | CA352000807 | GLB1 | c.1758T>A (p.Phe586Leu) c.1365T>A (p.Phe455Leu) c.1668T>A (p.Phe556Leu) c.1902T>A (p.Phe634Leu) c.1734+16735T>A (n.1734+16735T>A) | |
| 3 | g.32997322A>C | CA352000808 | GLB1 | c.1757T>G (p.Phe586Cys) c.1364T>G (p.Phe455Cys) c.1667T>G (p.Phe556Cys) c.1901T>G (p.Phe634Cys) c.1734+16734T>G (n.1734+16734T>G) | |
| 3 | g.32997322A>G | CA352000810 | GLB1 | c.1757T>C (p.Phe586Ser) c.1364T>C (p.Phe455Ser) c.1667T>C (p.Phe556Ser) c.1901T>C (p.Phe634Ser) c.1734+16734T>C (n.1734+16734T>C) | |
| 3 | g.32997322A>T | CA352000809 | GLB1 | c.1757T>A (p.Phe586Tyr) c.1364T>A (p.Phe455Tyr) c.1667T>A (p.Phe556Tyr) c.1901T>A (p.Phe634Tyr) c.1734+16734T>A (n.1734+16734T>A) | |
| 3 | g.32997323A>C | CA352000811 | GLB1 | c.1756T>G (p.Phe586Val) c.1363T>G (p.Phe455Val) c.1666T>G (p.Phe556Val) c.1900T>G (p.Phe634Val) c.1734+16733T>G (n.1734+16733T>G) | |
| 3 | g.32997323A>G | CA352000812 | GLB1 | c.1756T>C (p.Phe586Leu) c.1363T>C (p.Phe455Leu) c.1666T>C (p.Phe556Leu) c.1900T>C (p.Phe634Leu) c.1734+16733T>C (n.1734+16733T>C) | |
| 3 | g.32997323A>T | CA352000813 | GLB1 | c.1756T>A (p.Phe586Ile) c.1363T>A (p.Phe455Ile) c.1666T>A (p.Phe556Ile) c.1900T>A (p.Phe634Ile) c.1734+16733T>A (n.1734+16733T>A) | |
| 3 | g.32997324G>A | CA432960442 | GLB1 | c.1755C>T (p.Gly585=) c.1362C>T (p.Gly454=) c.1665C>T (p.Gly555=) c.1899C>T (p.Gly633=) c.1734+16732C>T (n.1734+16732C>T) | |
| 3 | g.32997324G>C | CA432960443 | GLB1 | c.1755C>G (p.Gly585=) c.1362C>G (p.Gly454=) c.1665C>G (p.Gly555=) c.1899C>G (p.Gly633=) c.1734+16732C>G (n.1734+16732C>G) | |
| 3 | g.32997324G>T | CA432960444 | GLB1 | c.1755C>A (p.Gly585=) c.1362C>A (p.Gly454=) c.1665C>A (p.Gly555=) c.1899C>A (p.Gly633=) c.1734+16732C>A (n.1734+16732C>A) | |
| 3 | g.32997325C>A | CA352000814 | GLB1 | c.1754G>T (p.Gly585Val) c.1361G>T (p.Gly454Val) c.1664G>T (p.Gly555Val) c.1898G>T (p.Gly633Val) c.1734+16731G>T (n.1734+16731G>T) | dbSNP gnomAD v4 |
| 3 | g.32997325C= | CA1355976989 | GLB1 | c.1754G= (p.Gly585=) c.1361G= (p.Gly454=) c.1664G= (p.Gly555=) c.1898G= (p.Gly633=) c.1734+16731G= (n.1734+16731G=) | |
| 3 | g.32997325C>G | CA352000815 | GLB1 | c.1754G>C (p.Gly585Ala) c.1361G>C (p.Gly454Ala) c.1664G>C (p.Gly555Ala) c.1898G>C (p.Gly633Ala) c.1734+16731G>C (n.1734+16731G>C) | |
| 3 | g.32997325C>T | CA352000816 | GLB1 | c.1754G>A (p.Gly585Asp) c.1361G>A (p.Gly454Asp) c.1664G>A (p.Gly555Asp) c.1898G>A (p.Gly633Asp) c.1734+16731G>A (n.1734+16731G>A) | |
| 3 | g.32997326C>A | CA352000817 | GLB1 | c.1753G>T (p.Gly585Cys) c.1360G>T (p.Gly454Cys) c.1663G>T (p.Gly555Cys) c.1897G>T (p.Gly633Cys) c.1734+16730G>T (n.1734+16730G>T) | |
| 3 | g.32997326C= | CA1355976990 | GLB1 | c.1753G= (p.Gly585=) c.1360G= (p.Gly454=) c.1663G= (p.Gly555=) c.1897G= (p.Gly633=) c.1734+16730G= (n.1734+16730G=) | |
| 3 | g.32997326C>G | CA352000818 | GLB1 | c.1753G>C (p.Gly585Arg) c.1360G>C (p.Gly454Arg) c.1663G>C (p.Gly555Arg) c.1897G>C (p.Gly633Arg) c.1734+16730G>C (n.1734+16730G>C) | |
| 3 | g.32997326C>T | CA352000819 | GLB1 | c.1753G>A (p.Gly585Ser) c.1360G>A (p.Gly454Ser) c.1663G>A (p.Gly555Ser) c.1897G>A (p.Gly633Ser) c.1734+16730G>A (n.1734+16730G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.32997327A>C | CA352000820 | GLB1 | c.1752T>G (p.Asn584Lys) c.1359T>G (p.Asn453Lys) c.1662T>G (p.Asn554Lys) c.1896T>G (p.Asn632Lys) c.1734+16729T>G (n.1734+16729T>G) | |
| 3 | g.32997327A>G | CA432960445 | GLB1 | c.1752T>C (p.Asn584=) c.1359T>C (p.Asn453=) c.1662T>C (p.Asn554=) c.1896T>C (p.Asn632=) c.1734+16729T>C (n.1734+16729T>C) | ClinVar dbSNP |
| 3 | g.32997327A>T | CA352000821 | GLB1 | c.1752T>A (p.Asn584Lys) c.1359T>A (p.Asn453Lys) c.1662T>A (p.Asn554Lys) c.1896T>A (p.Asn632Lys) c.1734+16729T>A (n.1734+16729T>A) | |
| 3 | g.32997328T>A | CA352000822 | GLB1 | c.1751A>T (p.Asn584Ile) c.1358A>T (p.Asn453Ile) c.1661A>T (p.Asn554Ile) c.1895A>T (p.Asn632Ile) c.1734+16728A>T (n.1734+16728A>T) | |
| 3 | g.32997328T>C | CA352000824 | GLB1 | c.1751A>G (p.Asn584Ser) c.1358A>G (p.Asn453Ser) c.1661A>G (p.Asn554Ser) c.1895A>G (p.Asn632Ser) c.1734+16728A>G (n.1734+16728A>G) | gnomAD v4 |
| 3 | g.32997328T>G | CA352000823 | GLB1 | c.1751A>C (p.Asn584Thr) c.1358A>C (p.Asn453Thr) c.1661A>C (p.Asn554Thr) c.1895A>C (p.Asn632Thr) c.1734+16728A>C (n.1734+16728A>C) | |
| 3 | g.32997329T>A | CA352000825 | GLB1 | c.1750A>T (p.Asn584Tyr) c.1357A>T (p.Asn453Tyr) c.1660A>T (p.Asn554Tyr) c.1894A>T (p.Asn632Tyr) c.1734+16727A>T (n.1734+16727A>T) | |
| 3 | g.32997329T>C | CA352000826 | GLB1 | c.1750A>G (p.Asn584Asp) c.1357A>G (p.Asn453Asp) c.1660A>G (p.Asn554Asp) c.1894A>G (p.Asn632Asp) c.1734+16727A>G (n.1734+16727A>G) | |
| 3 | g.32997329T>G | CA352000827 | GLB1 | c.1750A>C (p.Asn584His) c.1357A>C (p.Asn453His) c.1660A>C (p.Asn554His) c.1894A>C (p.Asn632His) c.1734+16727A>C (n.1734+16727A>C) | |
| 3 | g.32997330A= | CA1355976991 | GLB1 | c.1749T= (p.Ile583=) c.1356T= (p.Ile452=) c.1659T= (p.Ile553=) c.1893T= (p.Ile631=) c.1734+16726T= (n.1734+16726T=) | |
| 3 | g.32997330A>C | CA352000828 | GLB1 | c.1749T>G (p.Ile583Met) c.1356T>G (p.Ile452Met) c.1659T>G (p.Ile553Met) c.1893T>G (p.Ile631Met) c.1734+16726T>G (n.1734+16726T>G) | |
| 3 | g.32997330A>G | CA72667275 | GLB1 | c.1749T>C (p.Ile583=) c.1356T>C (p.Ile452=) c.1659T>C (p.Ile553=) c.1893T>C (p.Ile631=) c.1734+16726T>C (n.1734+16726T>C) | dbSNP gnomAD v4 |
| 3 | g.32997330A>T | CA432960446 | GLB1 | c.1749T>A (p.Ile583=) c.1356T>A (p.Ile452=) c.1659T>A (p.Ile553=) c.1893T>A (p.Ile631=) c.1734+16726T>A (n.1734+16726T>A) | |
| 3 | g.32997331A>C | CA352000829 | GLB1 | c.1748T>G (p.Ile583Ser) c.1355T>G (p.Ile452Ser) c.1658T>G (p.Ile553Ser) c.1892T>G (p.Ile631Ser) c.1734+16725T>G (n.1734+16725T>G) | |
| 3 | g.32997331A>G | CA352000830 | GLB1 | c.1748T>C (p.Ile583Thr) c.1355T>C (p.Ile452Thr) c.1658T>C (p.Ile553Thr) c.1892T>C (p.Ile631Thr) c.1734+16725T>C (n.1734+16725T>C) | gnomAD v4 |
| 3 | g.32997331A>T | CA352000831 | GLB1 | c.1748T>A (p.Ile583Asn) c.1355T>A (p.Ile452Asn) c.1658T>A (p.Ile553Asn) c.1892T>A (p.Ile631Asn) c.1734+16725T>A (n.1734+16725T>A) | |
| 3 | g.32997332T>A | CA352000832 | GLB1 | c.1747A>T (p.Ile583Phe) c.1354A>T (p.Ile452Phe) c.1657A>T (p.Ile553Phe) c.1891A>T (p.Ile631Phe) c.1734+16724A>T (n.1734+16724A>T) | |
| 3 | g.32997332T>C | CA352000833 | GLB1 | c.1747A>G (p.Ile583Val) c.1354A>G (p.Ile452Val) c.1657A>G (p.Ile553Val) c.1891A>G (p.Ile631Val) c.1734+16724A>G (n.1734+16724A>G) | gnomAD v4 |
| 3 | g.32997332T>G | CA352000834 | GLB1 | c.1747A>C (p.Ile583Leu) c.1354A>C (p.Ile452Leu) c.1657A>C (p.Ile553Leu) c.1891A>C (p.Ile631Leu) c.1734+16724A>C (n.1734+16724A>C) | |
| 3 | g.32997333C>A | CA352000835 | GLB1 | c.1746G>T (p.Trp582Cys) c.1353G>T (p.Trp451Cys) c.1656G>T (p.Trp552Cys) c.1890G>T (p.Trp630Cys) c.1734+16723G>T (n.1734+16723G>T) | gnomAD v4 |
| 3 | g.32997333C= | CA1355976992 | GLB1 | c.1746G= (p.Trp582=) c.1353G= (p.Trp451=) c.1656G= (p.Trp552=) c.1890G= (p.Trp630=) c.1734+16723G= (n.1734+16723G=) | |
| 3 | g.32997333C>G | CA352000836 | GLB1 | c.1746G>C (p.Trp582Cys) c.1353G>C (p.Trp451Cys) c.1656G>C (p.Trp552Cys) c.1890G>C (p.Trp630Cys) c.1734+16723G>C (n.1734+16723G>C) | |
| 3 | g.32997333C>T | CA2299300 | GLB1 | c.1746G>A (p.Trp582Ter) c.1353G>A (p.Trp451Ter) c.1656G>A (p.Trp552Ter) c.1890G>A (p.Trp630Ter) c.1734+16723G>A (n.1734+16723G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997334C>A | CA352000837 | GLB1 | c.1745G>T (p.Trp582Leu) c.1352G>T (p.Trp451Leu) c.1655G>T (p.Trp552Leu) c.1889G>T (p.Trp630Leu) c.1734+16722G>T (n.1734+16722G>T) | COSMIC COSMIC |
| 3 | g.32997334C>G | CA352000839 | GLB1 | c.1745G>C (p.Trp582Ser) c.1352G>C (p.Trp451Ser) c.1655G>C (p.Trp552Ser) c.1889G>C (p.Trp630Ser) c.1734+16722G>C (n.1734+16722G>C) | |
| 3 | g.32997334C>T | CA352000838 | GLB1 | c.1745G>A (p.Trp582Ter) c.1352G>A (p.Trp451Ter) c.1655G>A (p.Trp552Ter) c.1889G>A (p.Trp630Ter) c.1734+16722G>A (n.1734+16722G>A) |