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.99880678C>A | CA16040832 | AGL | c.1782C>A (p.Tyr594Ter) n.1993C>A c.1734C>A (p.Tyr578Ter) c.1731C>A (p.Tyr577Ter) c.42C>A (p.Tyr14Ter) | ClinVar dbSNP |
| 1 | g.99880678C= | CA1183929027 | AGL | c.1782C= (p.Tyr594=) n.1993C= c.1734C= (p.Tyr578=) c.1731C= (p.Tyr577=) c.42C= (p.Tyr14=) | |
| 1 | g.99880678C>G | CA341316475 | AGL | c.1782C>G (p.Tyr594Ter) n.1993C>G c.1734C>G (p.Tyr578Ter) c.1731C>G (p.Tyr577Ter) c.42C>G (p.Tyr14Ter) | |
| 1 | g.99880678C>T | CA419080736 | AGL | c.1782C>T (p.Tyr594=) n.1993C>T c.1734C>T (p.Tyr578=) c.1731C>T (p.Tyr577=) c.42C>T (p.Tyr14=) | |
| 1 | g.99880679C>A | CA419080737 | AGL | c.1783C>A (p.Arg595=) n.1994C>A c.1735C>A (p.Arg579=) c.1732C>A (p.Arg578=) c.43C>A (p.Arg15=) | |
| 1 | g.99880679C= | CA1183929028 | AGL | c.1783C= (p.Arg595=) n.1994C= c.1735C= (p.Arg579=) c.1732C= (p.Arg578=) c.43C= (p.Arg15=) | |
| 1 | g.99880679C>G | CA341316476 | AGL | c.1783C>G (p.Arg595Gly) n.1994C>G c.1735C>G (p.Arg579Gly) c.1732C>G (p.Arg578Gly) c.43C>G (p.Arg15Gly) | |
| 1 | g.99880679C>T | CA966592 | AGL | c.1783C>T (p.Arg595Ter) n.1994C>T c.1735C>T (p.Arg579Ter) c.1732C>T (p.Arg578Ter) c.43C>T (p.Arg15Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880680G>A | CA966593 | AGL | c.1784G>A (p.Arg595Gln) n.1995G>A c.1736G>A (p.Arg579Gln) c.1733G>A (p.Arg578Gln) c.44G>A (p.Arg15Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99880680G>C | CA341316480 | AGL | c.1784G>C (p.Arg595Pro) n.1995G>C c.1736G>C (p.Arg579Pro) c.1733G>C (p.Arg578Pro) c.44G>C (p.Arg15Pro) | gnomAD v4 |
| 1 | g.99880680G= | CA1183929029 | AGL | c.1784G= (p.Arg595=) n.1995G= c.1736G= (p.Arg579=) c.1733G= (p.Arg578=) c.44G= (p.Arg15=) | |
| 1 | g.99880680G>T | CA341316482 | AGL | c.1784G>T (p.Arg595Leu) n.1995G>T c.1736G>T (p.Arg579Leu) c.1733G>T (p.Arg578Leu) c.44G>T (p.Arg15Leu) | gnomAD v4 |
| 1 | g.99880681A>C | CA419080746 | AGL | c.1785A>C (p.Arg595=) n.1996A>C c.1737A>C (p.Arg579=) c.1734A>C (p.Arg578=) c.45A>C (p.Arg15=) | |
| 1 | g.99880681A>G | CA419080757 | AGL | c.1785A>G (p.Arg595=) n.1996A>G c.1737A>G (p.Arg579=) c.1734A>G (p.Arg578=) c.45A>G (p.Arg15=) | ClinVar |
| 1 | g.99880681A>T | CA419080756 | AGL | c.1785A>T (p.Arg595=) n.1996A>T c.1737A>T (p.Arg579=) c.1734A>T (p.Arg578=) c.45A>T (p.Arg15=) | |
| 1 | g.99880682T>A | CA341316485 | AGL | c.1786T>A (p.Tyr596Asn) n.1997T>A c.1738T>A (p.Tyr580Asn) c.1735T>A (p.Tyr579Asn) c.46T>A (p.Tyr16Asn) | |
| 1 | g.99880682T>C | CA966594 | AGL | c.1786T>C (p.Tyr596His) n.1997T>C c.1738T>C (p.Tyr580His) c.1735T>C (p.Tyr579His) c.46T>C (p.Tyr16His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99880682T>G | CA341316487 | AGL | c.1786T>G (p.Tyr596Asp) n.1997T>G c.1738T>G (p.Tyr580Asp) c.1735T>G (p.Tyr579Asp) c.46T>G (p.Tyr16Asp) | |
| 1 | g.99880682T= | CA1183929030 | AGL | c.1786T= (p.Tyr596=) n.1997T= c.1738T= (p.Tyr580=) c.1735T= (p.Tyr579=) c.46T= (p.Tyr16=) | |
| 1 | g.99880683A= | CA1183929031 | AGL | c.1787A= (p.Tyr596=) n.1998A= c.1739A= (p.Tyr580=) c.1736A= (p.Tyr579=) c.47A= (p.Tyr16=) | |
| 1 | g.99880683A>C | CA341316492 | AGL | c.1787A>C (p.Tyr596Ser) n.1998A>C c.1739A>C (p.Tyr580Ser) c.1736A>C (p.Tyr579Ser) c.47A>C (p.Tyr16Ser) | COSMIC COSMIC |
| 1 | g.99880683A>G | CA341316494 | AGL | c.1787A>G (p.Tyr596Cys) n.1998A>G c.1739A>G (p.Tyr580Cys) c.1736A>G (p.Tyr579Cys) c.47A>G (p.Tyr16Cys) | gnomAD v4 |
| 1 | g.99880683A>T | CA341316495 | AGL | c.1787A>T (p.Tyr596Phe) n.1998A>T c.1739A>T (p.Tyr580Phe) c.1736A>T (p.Tyr579Phe) c.47A>T (p.Tyr16Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99880684T>A | CA341316501 | AGL | c.1788T>A (p.Tyr596Ter) n.1999T>A c.1740T>A (p.Tyr580Ter) c.1737T>A (p.Tyr579Ter) c.48T>A (p.Tyr16Ter) | |
| 1 | g.99880684T>C | CA966595 | AGL | c.1788T>C (p.Tyr596=) n.1999T>C c.1740T>C (p.Tyr580=) c.1737T>C (p.Tyr579=) c.48T>C (p.Tyr16=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99880684T>G | CA341316498 | AGL | c.1788T>G (p.Tyr596Ter) n.1999T>G c.1740T>G (p.Tyr580Ter) c.1737T>G (p.Tyr579Ter) c.48T>G (p.Tyr16Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99880684T= | CA1183929032 | AGL | c.1788T= (p.Tyr596=) n.1999T= c.1740T= (p.Tyr580=) c.1737T= (p.Tyr579=) c.48T= (p.Tyr16=) | |
| 1 | g.99880685G>A | CA341316504 | AGL | c.1789G>A (p.Gly597Arg) n.2000G>A c.1741G>A (p.Gly581Arg) c.1738G>A (p.Gly580Arg) c.49G>A (p.Gly17Arg) | dbSNP |
| 1 | g.99880685G>C | CA341316507 | AGL | c.1789G>C (p.Gly597Arg) n.2000G>C c.1741G>C (p.Gly581Arg) c.1738G>C (p.Gly580Arg) c.49G>C (p.Gly17Arg) | |
| 1 | g.99880685G= | CA1183929033 | AGL | c.1789G= (p.Gly597=) n.2000G= c.1741G= (p.Gly581=) c.1738G= (p.Gly580=) c.49G= (p.Gly17=) | |
| 1 | g.99880685G>T | CA341316509 | AGL | c.1789G>T (p.Gly597Ter) n.2000G>T c.1741G>T (p.Gly581Ter) c.1738G>T (p.Gly580Ter) c.49G>T (p.Gly17Ter) | |
| 1 | g.99880689_99880691del | CA2574444576 | AGL | c.1793_1795del (p.Gly598del) n.2004_2006del c.1745_1747del (p.Gly582del) c.1742_1744del (p.Gly581del) c.53_55del (p.Gly18del) | |
| 1 | g.99880686G>A | CA341316511 | AGL | c.1790G>A (p.Gly597Glu) n.2001G>A c.1742G>A (p.Gly581Glu) c.1739G>A (p.Gly580Glu) c.50G>A (p.Gly17Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99880686G>C | CA341316513 | AGL | c.1790G>C (p.Gly597Ala) n.2001G>C c.1742G>C (p.Gly581Ala) c.1739G>C (p.Gly580Ala) c.50G>C (p.Gly17Ala) | |
| 1 | g.99880686G= | CA1183929034 | AGL | c.1790G= (p.Gly597=) n.2001G= c.1742G= (p.Gly581=) c.1739G= (p.Gly580=) c.50G= (p.Gly17=) | |
| 1 | g.99880686G>T | CA341316515 | AGL | c.1790G>T (p.Gly597Val) n.2001G>T c.1742G>T (p.Gly581Val) c.1739G>T (p.Gly580Val) c.50G>T (p.Gly17Val) | |
| 1 | g.99880687A>C | CA419080784 | AGL | c.1791A>C (p.Gly597=) n.2002A>C c.1743A>C (p.Gly581=) c.1740A>C (p.Gly580=) c.51A>C (p.Gly17=) | |
| 1 | g.99880687A>G | CA419080788 | AGL | c.1791A>G (p.Gly597=) n.2002A>G c.1743A>G (p.Gly581=) c.1740A>G (p.Gly580=) c.51A>G (p.Gly17=) | |
| 1 | g.99880687A>T | CA419080794 | AGL | c.1791A>T (p.Gly597=) n.2002A>T c.1743A>T (p.Gly581=) c.1740A>T (p.Gly580=) c.51A>T (p.Gly17=) | |
| 1 | g.99880688G>A | CA341316518 | AGL | c.1792G>A (p.Gly598Arg) n.2003G>A c.1744G>A (p.Gly582Arg) c.1741G>A (p.Gly581Arg) c.52G>A (p.Gly18Arg) | gnomAD v4 |
| 1 | g.99880688G>C | CA966596 | AGL | c.1792G>C (p.Gly598Arg) n.2003G>C c.1744G>C (p.Gly582Arg) c.1741G>C (p.Gly581Arg) c.52G>C (p.Gly18Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99880688G= | CA1183929035 | AGL | c.1792G= (p.Gly598=) n.2003G= c.1744G= (p.Gly582=) c.1741G= (p.Gly581=) c.52G= (p.Gly18=) | |
| 1 | g.99880688G>T | CA341316521 | AGL | c.1792G>T (p.Gly598Ter) n.2003G>T c.1744G>T (p.Gly582Ter) c.1741G>T (p.Gly581Ter) c.52G>T (p.Gly18Ter) | |
| 1 | g.99880689G>A | CA341316524 | AGL | c.1793G>A (p.Gly598Glu) n.2004G>A c.1745G>A (p.Gly582Glu) c.1742G>A (p.Gly581Glu) c.53G>A (p.Gly18Glu) | |
| 1 | g.99880689G>C | CA341316529 | AGL | c.1793G>C (p.Gly598Ala) n.2004G>C c.1745G>C (p.Gly582Ala) c.1742G>C (p.Gly581Ala) c.53G>C (p.Gly18Ala) | |
| 1 | g.99880689G>T | CA341316531 | AGL | c.1793G>T (p.Gly598Val) n.2004G>T c.1745G>T (p.Gly582Val) c.1742G>T (p.Gly581Val) c.53G>T (p.Gly18Val) | |
| 1 | g.99880690A= | CA1183929036 | AGL | c.1794A= (p.Gly598=) n.2005A= c.1746A= (p.Gly582=) c.1743A= (p.Gly581=) c.54A= (p.Gly18=) | |
| 1 | g.99880690A>C | CA419080806 | AGL | c.1794A>C (p.Gly598=) n.2005A>C c.1746A>C (p.Gly582=) c.1743A>C (p.Gly581=) c.54A>C (p.Gly18=) | |
| 1 | g.99880690A>G | CA419080807 | AGL | c.1794A>G (p.Gly598=) n.2005A>G c.1746A>G (p.Gly582=) c.1743A>G (p.Gly581=) c.54A>G (p.Gly18=) | ClinVar dbSNP |
| 1 | g.99880690A>T | CA419080809 | AGL | c.1794A>T (p.Gly598=) n.2005A>T c.1746A>T (p.Gly582=) c.1743A>T (p.Gly581=) c.54A>T (p.Gly18=) |