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.122283773T>A | CA354157481 | CASR | c.1588T>A (p.Ser530Thr) c.1849T>A (p.Ser617Thr) c.1819T>A (p.Ser607Thr) c.1336T>A (p.Ser446Thr) c.1231T>A (p.Ser411Thr) | |
| 3 | g.122283773T>C | CA354157482 | CASR | c.1588T>C (p.Ser530Pro) c.1849T>C (p.Ser617Pro) c.1819T>C (p.Ser607Pro) c.1336T>C (p.Ser446Pro) c.1231T>C (p.Ser411Pro) | gnomAD v4 |
| 3 | g.122283773T>G | CA354157483 | CASR | c.1588T>G (p.Ser530Ala) c.1849T>G (p.Ser617Ala) c.1819T>G (p.Ser607Ala) c.1336T>G (p.Ser446Ala) c.1231T>G (p.Ser411Ala) | |
| 3 | g.122283773_122283774insGAA | CA2667223961 | CASR | c.1588_1589insGAA (p.Ser530Ter) c.1849_1850insGAA (p.Ser617Ter) c.1819_1820insGAA (p.Ser607Ter) c.1336_1337insGAA (p.Ser446Ter) c.1231_1232insGAA (p.Ser411Ter) | gnomAD v4 |
| 3 | g.122283774C>A | CA354157486 | CASR | c.1589C>A (p.Ser530Ter) c.1850C>A (p.Ser617Ter) c.1820C>A (p.Ser607Ter) c.1337C>A (p.Ser446Ter) c.1232C>A (p.Ser411Ter) | ClinVar gnomAD v4 |
| 3 | g.122283774C= | CA1397870958 | CASR | c.1589C= (p.Ser530=) c.1850C= (p.Ser617=) c.1820C= (p.Ser607=) c.1337C= (p.Ser446=) c.1232C= (p.Ser411=) | |
| 3 | g.122283774C>G | CA354157488 | CASR | c.1589C>G (p.Ser530Trp) c.1850C>G (p.Ser617Trp) c.1820C>G (p.Ser607Trp) c.1337C>G (p.Ser446Trp) c.1232C>G (p.Ser411Trp) | |
| 3 | g.122283774C>T | CA82748557 | CASR | c.1589C>T (p.Ser530Leu) c.1850C>T (p.Ser617Leu) c.1820C>T (p.Ser607Leu) c.1337C>T (p.Ser446Leu) c.1232C>T (p.Ser411Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283775G>A | CA2569747 | CASR | c.1590G>A (p.Ser530=) c.1851G>A (p.Ser617=) c.1821G>A (p.Ser607=) c.1338G>A (p.Ser446=) c.1233G>A (p.Ser411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283775G>C | CA435251880 | CASR | c.1590G>C (p.Ser530=) c.1851G>C (p.Ser617=) c.1821G>C (p.Ser607=) c.1338G>C (p.Ser446=) c.1233G>C (p.Ser411=) | dbSNP |
| 3 | g.122283775G= | CA1397870964 | CASR | c.1590G= (p.Ser530=) c.1851G= (p.Ser617=) c.1821G= (p.Ser607=) c.1338G= (p.Ser446=) c.1233G= (p.Ser411=) | |
| 3 | g.122283775G>T | CA435251881 | CASR | c.1590G>T (p.Ser530=) c.1851G>T (p.Ser617=) c.1821G>T (p.Ser607=) c.1338G>T (p.Ser446=) c.1233G>T (p.Ser411=) | |
| 3 | g.122283776T>A | CA354157490 | CASR | c.1591T>A (p.Trp531Arg) c.1852T>A (p.Trp618Arg) c.1822T>A (p.Trp608Arg) c.1339T>A (p.Trp447Arg) c.1234T>A (p.Trp412Arg) | |
| 3 | g.122283776T>C | CA354157491 | CASR | c.1591T>C (p.Trp531Arg) c.1852T>C (p.Trp618Arg) c.1822T>C (p.Trp608Arg) c.1339T>C (p.Trp447Arg) c.1234T>C (p.Trp412Arg) | ClinVar dbSNP |
| 3 | g.122283776T>G | CA354157494 | CASR | c.1591T>G (p.Trp531Gly) c.1852T>G (p.Trp618Gly) c.1822T>G (p.Trp608Gly) c.1339T>G (p.Trp447Gly) c.1234T>G (p.Trp412Gly) | |
| 3 | g.122283777G>A | CA82748562 | CASR | c.1592G>A (p.Trp531Ter) c.1853G>A (p.Trp618Ter) c.1823G>A (p.Trp608Ter) c.1340G>A (p.Trp447Ter) c.1235G>A (p.Trp412Ter) | dbSNP |
| 3 | g.122283777G>C | CA354157496 | CASR | c.1592G>C (p.Trp531Ser) c.1853G>C (p.Trp618Ser) c.1823G>C (p.Trp608Ser) c.1340G>C (p.Trp447Ser) c.1235G>C (p.Trp412Ser) | |
| 3 | g.122283777G= | CA1397870973 | CASR | c.1592G= (p.Trp531=) c.1853G= (p.Trp618=) c.1823G= (p.Trp608=) c.1340G= (p.Trp447=) c.1235G= (p.Trp412=) | |
| 3 | g.122283777G>T | CA354157497 | CASR | c.1592G>T (p.Trp531Leu) c.1853G>T (p.Trp618Leu) c.1823G>T (p.Trp608Leu) c.1340G>T (p.Trp447Leu) c.1235G>T (p.Trp412Leu) | |
| 3 | g.122283778G>A | CA354157499 | CASR | c.1593G>A (p.Trp531Ter) c.1854G>A (p.Trp618Ter) c.1824G>A (p.Trp608Ter) c.1341G>A (p.Trp447Ter) c.1236G>A (p.Trp412Ter) | |
| 3 | g.122283778G>C | CA354157501 | CASR | c.1593G>C (p.Trp531Cys) c.1854G>C (p.Trp618Cys) c.1824G>C (p.Trp608Cys) c.1341G>C (p.Trp447Cys) c.1236G>C (p.Trp412Cys) | ClinVar |
| 3 | g.122283778G>T | CA354157500 | CASR | c.1593G>T (p.Trp531Cys) c.1854G>T (p.Trp618Cys) c.1824G>T (p.Trp608Cys) c.1341G>T (p.Trp447Cys) c.1236G>T (p.Trp412Cys) | |
| 3 | g.122283779A= | CA1397870976 | CASR | c.1594A= (p.Thr532=) c.1855A= (p.Thr619=) c.1825A= (p.Thr609=) c.1342A= (p.Thr448=) c.1237A= (p.Thr413=) | |
| 3 | g.122283779A>C | CA354157505 | CASR | c.1594A>C (p.Thr532Pro) c.1855A>C (p.Thr619Pro) c.1825A>C (p.Thr609Pro) c.1342A>C (p.Thr448Pro) c.1237A>C (p.Thr413Pro) | |
| 3 | g.122283779A>G | CA2569748 | CASR | c.1594A>G (p.Thr532Ala) c.1855A>G (p.Thr619Ala) c.1825A>G (p.Thr609Ala) c.1342A>G (p.Thr448Ala) c.1237A>G (p.Thr413Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122283779A>T | CA354157507 | CASR | c.1594A>T (p.Thr532Ser) c.1855A>T (p.Thr619Ser) c.1825A>T (p.Thr609Ser) c.1342A>T (p.Thr448Ser) c.1237A>T (p.Thr413Ser) | |
| 3 | g.122283780C>A | CA354157509 | CASR | c.1595C>A (p.Thr532Lys) c.1856C>A (p.Thr619Lys) c.1826C>A (p.Thr609Lys) c.1343C>A (p.Thr448Lys) c.1238C>A (p.Thr413Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283780C= | CA1397870991 | CASR | c.1595C= (p.Thr532=) c.1856C= (p.Thr619=) c.1826C= (p.Thr609=) c.1343C= (p.Thr448=) c.1238C= (p.Thr413=) | |
| 3 | g.122283780C>G | CA354157510 | CASR | c.1595C>G (p.Thr532Arg) c.1856C>G (p.Thr619Arg) c.1826C>G (p.Thr609Arg) c.1343C>G (p.Thr448Arg) c.1238C>G (p.Thr413Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283780C>T | CA2569749 | CASR | c.1595C>T (p.Thr532Met) c.1856C>T (p.Thr619Met) c.1826C>T (p.Thr609Met) c.1343C>T (p.Thr448Met) c.1238C>T (p.Thr413Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283781G>A | CA2569750 | CASR | c.1596G>A (p.Thr532=) c.1857G>A (p.Thr619=) c.1827G>A (p.Thr609=) c.1344G>A (p.Thr448=) c.1239G>A (p.Thr413=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122283781G>C | CA435251882 | CASR | c.1596G>C (p.Thr532=) c.1857G>C (p.Thr619=) c.1827G>C (p.Thr609=) c.1344G>C (p.Thr448=) c.1239G>C (p.Thr413=) | |
| 3 | g.122283781G= | CA1397870994 | CASR | c.1596G= (p.Thr532=) c.1857G= (p.Thr619=) c.1827G= (p.Thr609=) c.1344G= (p.Thr448=) c.1239G= (p.Thr413=) | |
| 3 | g.122283781G>T | CA435251883 | CASR | c.1596G>T (p.Thr532=) c.1857G>T (p.Thr619=) c.1827G>T (p.Thr609=) c.1344G>T (p.Thr448=) c.1239G>T (p.Thr413=) | gnomAD v4 |
| 3 | g.122283782G>A | CA354157517 | CASR | c.1597G>A (p.Glu533Lys) c.1858G>A (p.Glu620Lys) c.1828G>A (p.Glu610Lys) c.1345G>A (p.Glu449Lys) c.1240G>A (p.Glu414Lys) | COSMIC |
| 3 | g.122283782G>C | CA354157519 | CASR | c.1597G>C (p.Glu533Gln) c.1858G>C (p.Glu620Gln) c.1828G>C (p.Glu610Gln) c.1345G>C (p.Glu449Gln) c.1240G>C (p.Glu414Gln) | |
| 3 | g.122283782G= | CA1397871002 | CASR | c.1597G= (p.Glu533=) c.1858G= (p.Glu620=) c.1828G= (p.Glu610=) c.1345G= (p.Glu449=) c.1240G= (p.Glu414=) | |
| 3 | g.122283782G>T | CA16604428 | CASR | c.1597G>T (p.Glu533Ter) c.1858G>T (p.Glu620Ter) c.1828G>T (p.Glu610Ter) c.1345G>T (p.Glu449Ter) c.1240G>T (p.Glu414Ter) | ClinVar dbSNP |
| 3 | g.122283783A>C | CA354157527 | CASR | c.1598A>C (p.Glu533Ala) c.1859A>C (p.Glu620Ala) c.1829A>C (p.Glu610Ala) c.1346A>C (p.Glu449Ala) c.1241A>C (p.Glu414Ala) | ClinVar |
| 3 | g.122283783A>G | CA354157525 | CASR | c.1598A>G (p.Glu533Gly) c.1859A>G (p.Glu620Gly) c.1829A>G (p.Glu610Gly) c.1346A>G (p.Glu449Gly) c.1241A>G (p.Glu414Gly) | |
| 3 | g.122283783A>T | CA354157523 | CASR | c.1598A>T (p.Glu533Val) c.1859A>T (p.Glu620Val) c.1829A>T (p.Glu610Val) c.1346A>T (p.Glu449Val) c.1241A>T (p.Glu414Val) | |
| 3 | g.122283784G>A | CA435251884 | CASR | c.1599G>A (p.Glu533=) c.1860G>A (p.Glu620=) c.1830G>A (p.Glu610=) c.1347G>A (p.Glu449=) c.1242G>A (p.Glu414=) | COSMIC |
| 3 | g.122283784G>C | CA354157530 | CASR | c.1599G>C (p.Glu533Asp) c.1860G>C (p.Glu620Asp) c.1830G>C (p.Glu610Asp) c.1347G>C (p.Glu449Asp) c.1242G>C (p.Glu414Asp) | |
| 3 | g.122283784G>T | CA354157532 | CASR | c.1599G>T (p.Glu533Asp) c.1860G>T (p.Glu620Asp) c.1830G>T (p.Glu610Asp) c.1347G>T (p.Glu449Asp) c.1242G>T (p.Glu414Asp) | |
| 3 | g.122283785C>A | CA354157534 | CASR | c.1600C>A (p.Pro534Thr) c.1861C>A (p.Pro621Thr) c.1831C>A (p.Pro611Thr) c.1348C>A (p.Pro450Thr) c.1243C>A (p.Pro415Thr) | |
| 3 | g.122283785C>G | CA354157535 | CASR | c.1600C>G (p.Pro534Ala) c.1861C>G (p.Pro621Ala) c.1831C>G (p.Pro611Ala) c.1348C>G (p.Pro450Ala) c.1243C>G (p.Pro415Ala) | |
| 3 | g.122283785C>T | CA354157537 | CASR | c.1600C>T (p.Pro534Ser) c.1861C>T (p.Pro621Ser) c.1831C>T (p.Pro611Ser) c.1348C>T (p.Pro450Ser) c.1243C>T (p.Pro415Ser) | ClinVar gnomAD v4 |
| 3 | g.122283786C>A | CA354157539 | CASR | c.1601C>A (p.Pro534His) c.1862C>A (p.Pro621His) c.1832C>A (p.Pro611His) c.1349C>A (p.Pro450His) c.1244C>A (p.Pro415His) | |
| 3 | g.122283786C= | CA1397871008 | CASR | c.1601C= (p.Pro534=) c.1862C= (p.Pro621=) c.1832C= (p.Pro611=) c.1349C= (p.Pro450=) c.1244C= (p.Pro415=) | |
| 3 | g.122283786C>G | CA354157540 | CASR | c.1601C>G (p.Pro534Arg) c.1862C>G (p.Pro621Arg) c.1832C>G (p.Pro611Arg) c.1349C>G (p.Pro450Arg) c.1244C>G (p.Pro415Arg) |