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 |
|---|---|---|---|---|---|
| 12 | g.101764918C>A | CA343362 | GNPTAB | c.1999G>T (p.Glu667Ter) c.1918G>T (p.Glu640Ter) c.1783G>T (p.Glu595Ter) c.772G>T (p.Glu258Ter) | ClinVar dbSNP |
| 12 | g.101764918C= | CA2058955608 | GNPTAB | c.1999G= (p.Glu667=) c.1918G= (p.Glu640=) c.1783G= (p.Glu595=) c.772G= (p.Glu258=) | |
| 12 | g.101764918C>G | CA386299223 | GNPTAB | c.1999G>C (p.Glu667Gln) c.1918G>C (p.Glu640Gln) c.1783G>C (p.Glu595Gln) c.772G>C (p.Glu258Gln) | |
| 12 | g.101764918C>T | CA386299224 | GNPTAB | c.1999G>A (p.Glu667Lys) c.1918G>A (p.Glu640Lys) c.1783G>A (p.Glu595Lys) c.772G>A (p.Glu258Lys) | |
| 12 | g.101764919A= | CA2058955609 | GNPTAB | c.1998T= (p.Phe666=) c.1917T= (p.Phe639=) c.1782T= (p.Phe594=) c.771T= (p.Phe257=) | |
| 12 | g.101764919A>C | CA386299225 | GNPTAB | c.1998T>G (p.Phe666Leu) c.1917T>G (p.Phe639Leu) c.1782T>G (p.Phe594Leu) c.771T>G (p.Phe257Leu) | |
| 12 | g.101764919A>G | CA6746492 | GNPTAB | c.1998T>C (p.Phe666=) c.1917T>C (p.Phe639=) c.1782T>C (p.Phe594=) c.771T>C (p.Phe257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764919A>T | CA386299226 | GNPTAB | c.1998T>A (p.Phe666Leu) c.1917T>A (p.Phe639Leu) c.1782T>A (p.Phe594Leu) c.771T>A (p.Phe257Leu) | |
| 12 | g.101764920A= | CA2058955610 | GNPTAB | c.1997T= (p.Phe666=) c.1916T= (p.Phe639=) c.1781T= (p.Phe594=) c.770T= (p.Phe257=) | |
| 12 | g.101764920A>C | CA386299227 | GNPTAB | c.1997T>G (p.Phe666Cys) c.1916T>G (p.Phe639Cys) c.1781T>G (p.Phe594Cys) c.770T>G (p.Phe257Cys) | |
| 12 | g.101764920A>G | CA386299228 | GNPTAB | c.1997T>C (p.Phe666Ser) c.1916T>C (p.Phe639Ser) c.1781T>C (p.Phe594Ser) c.770T>C (p.Phe257Ser) | dbSNP gnomAD v4 |
| 12 | g.101764920A>T | CA386299229 | GNPTAB | c.1997T>A (p.Phe666Tyr) c.1916T>A (p.Phe639Tyr) c.1781T>A (p.Phe594Tyr) c.770T>A (p.Phe257Tyr) | gnomAD v4 |
| 12 | g.101764920_101764921insTTTTT | CA951176046 | GNPTAB | c.1996_1997insAAAAA (p.Phe666Ter) c.1915_1916insAAAAA (p.Phe639Ter) c.1780_1781insAAAAA (p.Phe594Ter) c.769_770insAAAAA (p.Phe257Ter) | gnomAD v3 gnomAD v4 |
| 12 | g.101764921A>C | CA386299230 | GNPTAB | c.1996T>G (p.Phe666Val) c.1915T>G (p.Phe639Val) c.1780T>G (p.Phe594Val) c.769T>G (p.Phe257Val) | |
| 12 | g.101764921A>G | CA386299231 | GNPTAB | c.1996T>C (p.Phe666Leu) c.1915T>C (p.Phe639Leu) c.1780T>C (p.Phe594Leu) c.769T>C (p.Phe257Leu) | |
| 12 | g.101764921A>T | CA386299232 | GNPTAB | c.1996T>A (p.Phe666Ile) c.1915T>A (p.Phe639Ile) c.1780T>A (p.Phe594Ile) c.769T>A (p.Phe257Ile) | |
| 12 | g.101764922A>C | CA481576982 | GNPTAB | c.1995T>G (p.Leu665=) c.1914T>G (p.Leu638=) c.1779T>G (p.Leu593=) c.768T>G (p.Leu256=) | |
| 12 | g.101764922A>G | CA481576983 | GNPTAB | c.1995T>C (p.Leu665=) c.1914T>C (p.Leu638=) c.1779T>C (p.Leu593=) c.768T>C (p.Leu256=) | |
| 12 | g.101764922A>T | CA481576984 | GNPTAB | c.1995T>A (p.Leu665=) c.1914T>A (p.Leu638=) c.1779T>A (p.Leu593=) c.768T>A (p.Leu256=) | |
| 12 | g.101764922_101764923insTCAACAAAT | CA951176048 | GNPTAB | c.1994_1995insATTTGTTGA (p.Leu665_Phe666insPheValAsp) c.1913_1914insATTTGTTGA (p.Leu638_Phe639insPheValAsp) c.1778_1779insATTTGTTGA (p.Leu593_Phe594insPheValAsp) c.767_768insATTTGTTGA (p.Leu256_Phe257insPheValAsp) | gnomAD v3 gnomAD v4 |
| 12 | g.101764923A>C | CA386299235 | GNPTAB | c.1994T>G (p.Leu665Arg) c.1913T>G (p.Leu638Arg) c.1778T>G (p.Leu593Arg) c.767T>G (p.Leu256Arg) | |
| 12 | g.101764923A>G | CA386299233 | GNPTAB | c.1994T>C (p.Leu665Pro) c.1913T>C (p.Leu638Pro) c.1778T>C (p.Leu593Pro) c.767T>C (p.Leu256Pro) | |
| 12 | g.101764923A>T | CA386299234 | GNPTAB | c.1994T>A (p.Leu665His) c.1913T>A (p.Leu638His) c.1778T>A (p.Leu593His) c.767T>A (p.Leu256His) | |
| 12 | g.101764924G>A | CA386299236 | GNPTAB | c.1993C>T (p.Leu665Phe) c.1912C>T (p.Leu638Phe) c.1777C>T (p.Leu593Phe) c.766C>T (p.Leu256Phe) | |
| 12 | g.101764924G>C | CA6746493 | GNPTAB | c.1993C>G (p.Leu665Val) c.1912C>G (p.Leu638Val) c.1777C>G (p.Leu593Val) c.766C>G (p.Leu256Val) | dbSNP ExAC gnomAD v2 |
| 12 | g.101764924G= | CA2058955611 | GNPTAB | c.1993C= (p.Leu665=) c.1912C= (p.Leu638=) c.1777C= (p.Leu593=) c.766C= (p.Leu256=) | |
| 12 | g.101764924G>T | CA386299237 | GNPTAB | c.1993C>A (p.Leu665Ile) c.1912C>A (p.Leu638Ile) c.1777C>A (p.Leu593Ile) c.766C>A (p.Leu256Ile) | COSMIC |
| 12 | g.101764925G>A | CA6746494 | GNPTAB | c.1992C>T (p.Ile664=) c.1911C>T (p.Ile637=) c.1776C>T (p.Ile592=) c.765C>T (p.Ile255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101764925G>C | CA386299238 | GNPTAB | c.1992C>G (p.Ile664Met) c.1911C>G (p.Ile637Met) c.1776C>G (p.Ile592Met) c.765C>G (p.Ile255Met) | |
| 12 | g.101764925G= | CA2058955612 | GNPTAB | c.1992C= (p.Ile664=) c.1911C= (p.Ile637=) c.1776C= (p.Ile592=) c.765C= (p.Ile255=) | |
| 12 | g.101764925G>T | CA481576985 | GNPTAB | c.1992C>A (p.Ile664=) c.1911C>A (p.Ile637=) c.1776C>A (p.Ile592=) c.765C>A (p.Ile255=) | |
| 12 | g.101764926A>C | CA386299239 | GNPTAB | c.1991T>G (p.Ile664Ser) c.1910T>G (p.Ile637Ser) c.1775T>G (p.Ile592Ser) c.764T>G (p.Ile255Ser) | |
| 12 | g.101764926A>G | CA386299240 | GNPTAB | c.1991T>C (p.Ile664Thr) c.1910T>C (p.Ile637Thr) c.1775T>C (p.Ile592Thr) c.764T>C (p.Ile255Thr) | |
| 12 | g.101764926A>T | CA386299241 | GNPTAB | c.1991T>A (p.Ile664Asn) c.1910T>A (p.Ile637Asn) c.1775T>A (p.Ile592Asn) c.764T>A (p.Ile255Asn) | |
| 12 | g.101764927T>A | CA386299242 | GNPTAB | c.1990A>T (p.Ile664Phe) c.1909A>T (p.Ile637Phe) c.1774A>T (p.Ile592Phe) c.763A>T (p.Ile255Phe) | gnomAD v4 |
| 12 | g.101764927T>C | CA386299243 | GNPTAB | c.1990A>G (p.Ile664Val) c.1909A>G (p.Ile637Val) c.1774A>G (p.Ile592Val) c.763A>G (p.Ile255Val) | |
| 12 | g.101764927T>G | CA386299244 | GNPTAB | c.1990A>C (p.Ile664Leu) c.1909A>C (p.Ile637Leu) c.1774A>C (p.Ile592Leu) c.763A>C (p.Ile255Leu) | |
| 12 | g.101764928T>A | CA386299245 | GNPTAB | c.1989A>T (p.Glu663Asp) c.1908A>T (p.Glu636Asp) c.1773A>T (p.Glu591Asp) c.762A>T (p.Glu254Asp) | |
| 12 | g.101764928T>C | CA481576986 | GNPTAB | c.1989A>G (p.Glu663=) c.1908A>G (p.Glu636=) c.1773A>G (p.Glu591=) c.762A>G (p.Glu254=) | |
| 12 | g.101764928T>G | CA386299246 | GNPTAB | c.1989A>C (p.Glu663Asp) c.1908A>C (p.Glu636Asp) c.1773A>C (p.Glu591Asp) c.762A>C (p.Glu254Asp) | |
| 12 | g.101764929T>A | CA386299249 | GNPTAB | c.1988A>T (p.Glu663Val) c.1907A>T (p.Glu636Val) c.1772A>T (p.Glu591Val) c.761A>T (p.Glu254Val) | |
| 12 | g.101764929T>C | CA386299248 | GNPTAB | c.1988A>G (p.Glu663Gly) c.1907A>G (p.Glu636Gly) c.1772A>G (p.Glu591Gly) c.761A>G (p.Glu254Gly) | COSMIC |
| 12 | g.101764929T>G | CA386299247 | GNPTAB | c.1988A>C (p.Glu663Ala) c.1907A>C (p.Glu636Ala) c.1772A>C (p.Glu591Ala) c.761A>C (p.Glu254Ala) | |
| 12 | g.101764930C>A | CA386299252 | GNPTAB | c.1987G>T (p.Glu663Ter) c.1906G>T (p.Glu636Ter) c.1771G>T (p.Glu591Ter) c.760G>T (p.Glu254Ter) | |
| 12 | g.101764930C>G | CA386299250 | GNPTAB | c.1987G>C (p.Glu663Gln) c.1906G>C (p.Glu636Gln) c.1771G>C (p.Glu591Gln) c.760G>C (p.Glu254Gln) | |
| 12 | g.101764930C>T | CA386299251 | GNPTAB | c.1987G>A (p.Glu663Lys) c.1906G>A (p.Glu636Lys) c.1771G>A (p.Glu591Lys) c.760G>A (p.Glu254Lys) | |
| 12 | g.101764931C>A | CA481576987 | GNPTAB | c.1986G>T (p.Ala662=) c.1905G>T (p.Ala635=) c.1770G>T (p.Ala590=) c.759G>T (p.Ala253=) | |
| 12 | g.101764931C= | CA2058955613 | GNPTAB | c.1986G= (p.Ala662=) c.1905G= (p.Ala635=) c.1770G= (p.Ala590=) c.759G= (p.Ala253=) | |
| 12 | g.101764931C>G | CA481576988 | GNPTAB | c.1986G>C (p.Ala662=) c.1905G>C (p.Ala635=) c.1770G>C (p.Ala590=) c.759G>C (p.Ala253=) | |
| 12 | g.101764931C>T | CA6746495 | GNPTAB | c.1986G>A (p.Ala662=) c.1905G>A (p.Ala635=) c.1770G>A (p.Ala590=) c.759G>A (p.Ala253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |