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.93879240T>A | CA353671962 | PROS1 | c.1567A>T (p.Met523Leu) c.1522A>T (p.Met508Leu) n.1735A>T c.1525A>T (p.Met509Leu) c.1666A>T (n.1666A>T) c.510A>T (n.510A>T) c.1663A>T (p.Met555Leu) c.1174A>T (p.Met392Leu) | |
| 3 | g.93879240T>C | CA353671964 | PROS1 | c.1567A>G (p.Met523Val) c.1522A>G (p.Met508Val) n.1735A>G c.1525A>G (p.Met509Val) c.1666A>G (n.1666A>G) c.510A>G (n.510A>G) c.1663A>G (p.Met555Val) c.1174A>G (p.Met392Val) | |
| 3 | g.93879240T>G | CA353671966 | PROS1 | c.1567A>C (p.Met523Leu) c.1522A>C (p.Met508Leu) n.1735A>C c.1525A>C (p.Met509Leu) c.1666A>C (n.1666A>C) c.510A>C (n.510A>C) c.1663A>C (p.Met555Leu) c.1174A>C (p.Met392Leu) | |
| 3 | g.93879241A= | CA1385030622 | PROS1 | c.1566T= (p.Val522=) c.1521T= (p.Val507=) n.1734T= c.1524T= (p.Val508=) c.1665T= (n.1665T=) c.509T= (n.509T=) c.1662T= (p.Val554=) c.1173T= (p.Val391=) | |
| 3 | g.93879241A>C | CA434464437 | PROS1 | c.1566T>G (p.Val522=) c.1521T>G (p.Val507=) n.1734T>G c.1524T>G (p.Val508=) c.1665T>G (n.1665T>G) c.509T>G (n.509T>G) c.1662T>G (p.Val554=) c.1173T>G (p.Val391=) | |
| 3 | g.93879241A>G | CA434464436 | PROS1 | c.1566T>C (p.Val522=) c.1521T>C (p.Val507=) n.1734T>C c.1524T>C (p.Val508=) c.1665T>C (n.1665T>C) c.509T>C (n.509T>C) c.1662T>C (p.Val554=) c.1173T>C (p.Val391=) | dbSNP |
| 3 | g.93879241A>T | CA2503154 | PROS1 | c.1566T>A (p.Val522=) c.1521T>A (p.Val507=) n.1734T>A c.1524T>A (p.Val508=) c.1665T>A (n.1665T>A) c.509T>A (n.509T>A) c.1662T>A (p.Val554=) c.1173T>A (p.Val391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93879242A>C | CA353671969 | PROS1 | c.1565T>G (p.Val522Gly) c.1520T>G (p.Val507Gly) n.1733T>G c.1523T>G (p.Val508Gly) c.1664T>G (n.1664T>G) c.508T>G (n.508T>G) c.1661T>G (p.Val554Gly) c.1172T>G (p.Val391Gly) | |
| 3 | g.93879242A>G | CA353671970 | PROS1 | c.1565T>C (p.Val522Ala) c.1520T>C (p.Val507Ala) n.1733T>C c.1523T>C (p.Val508Ala) c.1664T>C (n.1664T>C) c.508T>C (n.508T>C) c.1661T>C (p.Val554Ala) c.1172T>C (p.Val391Ala) | |
| 3 | g.93879242A>T | CA353671973 | PROS1 | c.1565T>A (p.Val522Asp) c.1520T>A (p.Val507Asp) n.1733T>A c.1523T>A (p.Val508Asp) c.1664T>A (n.1664T>A) c.508T>A (n.508T>A) c.1661T>A (p.Val554Asp) c.1172T>A (p.Val391Asp) | ClinVar dbSNP |
| 3 | g.93879243C>A | CA353671976 | PROS1 | c.1564G>T (p.Val522Phe) c.1519G>T (p.Val507Phe) n.1732G>T c.1522G>T (p.Val508Phe) c.1663G>T (n.1663G>T) c.507G>T (n.507G>T) c.1660G>T (p.Val554Phe) c.1171G>T (p.Val391Phe) | |
| 3 | g.93879243C= | CA1385030623 | PROS1 | c.1564G= (p.Val522=) c.1519G= (p.Val507=) n.1732G= c.1522G= (p.Val508=) c.1663G= (n.1663G=) c.507G= (n.507G=) c.1660G= (p.Val554=) c.1171G= (p.Val391=) | |
| 3 | g.93879243C>G | CA2503155 | PROS1 | c.1564G>C (p.Val522Leu) c.1519G>C (p.Val507Leu) n.1732G>C c.1522G>C (p.Val508Leu) c.1663G>C (n.1663G>C) c.507G>C (n.507G>C) c.1660G>C (p.Val554Leu) c.1171G>C (p.Val391Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.93879243C>T | CA2503156 | PROS1 | c.1564G>A (p.Val522Ile) c.1519G>A (p.Val507Ile) n.1732G>A c.1522G>A (p.Val508Ile) c.1663G>A (n.1663G>A) c.507G>A (n.507G>A) c.1660G>A (p.Val554Ile) c.1171G>A (p.Val391Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93879244A>C | CA434464438 | PROS1 | c.1563T>G (p.Gly521=) c.1518T>G (p.Gly506=) n.1731T>G c.1521T>G (p.Gly507=) c.1662T>G (n.1662T>G) c.506T>G (n.506T>G) c.1659T>G (p.Gly553=) c.1170T>G (p.Gly390=) | |
| 3 | g.93879244A>G | CA434464440 | PROS1 | c.1563T>C (p.Gly521=) c.1518T>C (p.Gly506=) n.1731T>C c.1521T>C (p.Gly507=) c.1662T>C (n.1662T>C) c.506T>C (n.506T>C) c.1659T>C (p.Gly553=) c.1170T>C (p.Gly390=) | |
| 3 | g.93879244A>T | CA434464439 | PROS1 | c.1563T>A (p.Gly521=) c.1518T>A (p.Gly506=) n.1731T>A c.1521T>A (p.Gly507=) c.1662T>A (n.1662T>A) c.506T>A (n.506T>A) c.1659T>A (p.Gly553=) c.1170T>A (p.Gly390=) | |
| 3 | g.93879245C>A | CA353671980 | PROS1 | c.1562G>T (p.Gly521Val) c.1517G>T (p.Gly506Val) n.1730G>T c.1520G>T (p.Gly507Val) c.1661G>T (n.1661G>T) c.505G>T (n.505G>T) c.1658G>T (p.Gly553Val) c.1169G>T (p.Gly390Val) | |
| 3 | g.93879245C>G | CA353671981 | PROS1 | c.1562G>C (p.Gly521Ala) c.1517G>C (p.Gly506Ala) n.1730G>C c.1520G>C (p.Gly507Ala) c.1661G>C (n.1661G>C) c.505G>C (n.505G>C) c.1658G>C (p.Gly553Ala) c.1169G>C (p.Gly390Ala) | |
| 3 | g.93879245C>T | CA353671982 | PROS1 | c.1562G>A (p.Gly521Asp) c.1517G>A (p.Gly506Asp) n.1730G>A c.1520G>A (p.Gly507Asp) c.1661G>A (n.1661G>A) c.505G>A (n.505G>A) c.1658G>A (p.Gly553Asp) c.1169G>A (p.Gly390Asp) | |
| 3 | g.93879246C>A | CA353671997 | PROS1 | c.1561G>T (p.Gly521Cys) c.1516G>T (p.Gly506Cys) n.1729G>T c.1519G>T (p.Gly507Cys) c.1660G>T (n.1660G>T) c.504G>T (n.504G>T) c.1657G>T (p.Gly553Cys) c.1168G>T (p.Gly390Cys) | |
| 3 | g.93879246C>G | CA353671987 | PROS1 | c.1561G>C (p.Gly521Arg) c.1516G>C (p.Gly506Arg) n.1729G>C c.1519G>C (p.Gly507Arg) c.1660G>C (n.1660G>C) c.504G>C (n.504G>C) c.1657G>C (p.Gly553Arg) c.1168G>C (p.Gly390Arg) | |
| 3 | g.93879246C>T | CA353671986 | PROS1 | c.1561G>A (p.Gly521Ser) c.1516G>A (p.Gly506Ser) n.1729G>A c.1519G>A (p.Gly507Ser) c.1660G>A (n.1660G>A) c.504G>A (n.504G>A) c.1657G>A (p.Gly553Ser) c.1168G>A (p.Gly390Ser) | gnomAD v4 |
| 3 | g.93879247A>C | CA434464441 | PROS1 | c.1560T>G (p.Thr520=) c.1515T>G (p.Thr505=) n.1728T>G c.1518T>G (p.Thr506=) c.1659T>G (n.1659T>G) c.503T>G (n.503T>G) c.1656T>G (p.Thr552=) c.1167T>G (p.Thr389=) | |
| 3 | g.93879247A>G | CA434464442 | PROS1 | c.1560T>C (p.Thr520=) c.1515T>C (p.Thr505=) n.1728T>C c.1518T>C (p.Thr506=) c.1659T>C (n.1659T>C) c.503T>C (n.503T>C) c.1656T>C (p.Thr552=) c.1167T>C (p.Thr389=) | |
| 3 | g.93879247A>T | CA434464443 | PROS1 | c.1560T>A (p.Thr520=) c.1515T>A (p.Thr505=) n.1728T>A c.1518T>A (p.Thr506=) c.1659T>A (n.1659T>A) c.503T>A (n.503T>A) c.1656T>A (p.Thr552=) c.1167T>A (p.Thr389=) | |
| 3 | g.93879248G>A | CA353671999 | PROS1 | c.1559C>T (p.Thr520Ile) c.1514C>T (p.Thr505Ile) n.1727C>T c.1517C>T (p.Thr506Ile) c.1658C>T (n.1658C>T) c.502C>T (n.502C>T) c.1655C>T (p.Thr552Ile) c.1166C>T (p.Thr389Ile) | gnomAD v4 |
| 3 | g.93879248G>C | CA353672001 | PROS1 | c.1559C>G (p.Thr520Ser) c.1514C>G (p.Thr505Ser) n.1727C>G c.1517C>G (p.Thr506Ser) c.1658C>G (n.1658C>G) c.502C>G (n.502C>G) c.1655C>G (p.Thr552Ser) c.1166C>G (p.Thr389Ser) | |
| 3 | g.93879248G>T | CA353672002 | PROS1 | c.1559C>A (p.Thr520Asn) c.1514C>A (p.Thr505Asn) n.1727C>A c.1517C>A (p.Thr506Asn) c.1658C>A (n.1658C>A) c.502C>A (n.502C>A) c.1655C>A (p.Thr552Asn) c.1166C>A (p.Thr389Asn) | |
| 3 | g.93879249T>A | CA353672004 | PROS1 | c.1558A>T (p.Thr520Ser) c.1513A>T (p.Thr505Ser) n.1726A>T c.1516A>T (p.Thr506Ser) c.1657A>T (n.1657A>T) c.501A>T (n.501A>T) c.1654A>T (p.Thr552Ser) c.1165A>T (p.Thr389Ser) | |
| 3 | g.93879249T>C | CA353672007 | PROS1 | c.1558A>G (p.Thr520Ala) c.1513A>G (p.Thr505Ala) n.1726A>G c.1516A>G (p.Thr506Ala) c.1657A>G (n.1657A>G) c.501A>G (n.501A>G) c.1654A>G (p.Thr552Ala) c.1165A>G (p.Thr389Ala) | |
| 3 | g.93879249T>G | CA2503157 | PROS1 | c.1558A>C (p.Thr520Pro) c.1513A>C (p.Thr505Pro) n.1726A>C c.1516A>C (p.Thr506Pro) c.1657A>C (n.1657A>C) c.501A>C (n.501A>C) c.1654A>C (p.Thr552Pro) c.1165A>C (p.Thr389Pro) | dbSNP ExAC gnomAD v2 |
| 3 | g.93879249T= | CA1385030624 | PROS1 | c.1558A= (p.Thr520=) c.1513A= (p.Thr505=) n.1726A= c.1516A= (p.Thr506=) c.1657A= (n.1657A=) c.501A= (n.501A=) c.1654A= (p.Thr552=) c.1165A= (p.Thr389=) | |
| 3 | g.93879250G>A | CA434464444 | PROS1 | c.1557C>T (p.Gly519=) c.1512C>T (p.Gly504=) n.1725C>T c.1515C>T (p.Gly505=) c.1656C>T (n.1656C>T) c.500C>T (n.500C>T) c.1653C>T (p.Gly551=) c.1164C>T (p.Gly388=) | |
| 3 | g.93879250G>C | CA2503158 | PROS1 | c.1557C>G (p.Gly519=) c.1512C>G (p.Gly504=) n.1725C>G c.1515C>G (p.Gly505=) c.1656C>G (n.1656C>G) c.500C>G (n.500C>G) c.1653C>G (p.Gly551=) c.1164C>G (p.Gly388=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.93879250G= | CA1385030625 | PROS1 | c.1557C= (p.Gly519=) c.1512C= (p.Gly504=) n.1725C= c.1515C= (p.Gly505=) c.1656C= (n.1656C=) c.500C= (n.500C=) c.1653C= (p.Gly551=) c.1164C= (p.Gly388=) | |
| 3 | g.93879250G>T | CA434464445 | PROS1 | c.1557C>A (p.Gly519=) c.1512C>A (p.Gly504=) n.1725C>A c.1515C>A (p.Gly505=) c.1656C>A (n.1656C>A) c.500C>A (n.500C>A) c.1653C>A (p.Gly551=) c.1164C>A (p.Gly388=) | |
| 3 | g.93879251C>A | CA353672011 | PROS1 | c.1556G>T (p.Gly519Val) c.1511G>T (p.Gly504Val) n.1724G>T c.1514G>T (p.Gly505Val) c.1655G>T (n.1655G>T) c.499G>T (n.499G>T) c.1652G>T (p.Gly551Val) c.1163G>T (p.Gly388Val) | |
| 3 | g.93879251C= | CA1385030626 | PROS1 | c.1556G= (p.Gly519=) c.1511G= (p.Gly504=) n.1724G= c.1514G= (p.Gly505=) c.1655G= (n.1655G=) c.499G= (n.499G=) c.1652G= (p.Gly551=) c.1163G= (p.Gly388=) | |
| 3 | g.93879251C>G | CA353672014 | PROS1 | c.1556G>C (p.Gly519Ala) c.1511G>C (p.Gly504Ala) n.1724G>C c.1514G>C (p.Gly505Ala) c.1655G>C (n.1655G>C) c.499G>C (n.499G>C) c.1652G>C (p.Gly551Ala) c.1163G>C (p.Gly388Ala) | |
| 3 | g.93879251C>T | CA353672016 | PROS1 | c.1556G>A (p.Gly519Asp) c.1511G>A (p.Gly504Asp) n.1724G>A c.1514G>A (p.Gly505Asp) c.1655G>A (n.1655G>A) c.499G>A (n.499G>A) c.1652G>A (p.Gly551Asp) c.1163G>A (p.Gly388Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.93879252C>A | CA353672019 | PROS1 | c.1555G>T (p.Gly519Cys) c.1510G>T (p.Gly504Cys) n.1723G>T c.1513G>T (p.Gly505Cys) c.1654G>T (n.1654G>T) c.498G>T (n.498G>T) c.1651G>T (p.Gly551Cys) c.1162G>T (p.Gly388Cys) | |
| 3 | g.93879252C>G | CA353672020 | PROS1 | c.1555G>C (p.Gly519Arg) c.1510G>C (p.Gly504Arg) n.1723G>C c.1513G>C (p.Gly505Arg) c.1654G>C (n.1654G>C) c.498G>C (n.498G>C) c.1651G>C (p.Gly551Arg) c.1162G>C (p.Gly388Arg) | |
| 3 | g.93879252C>T | CA353672021 | PROS1 | c.1555G>A (p.Gly519Ser) c.1510G>A (p.Gly504Ser) n.1723G>A c.1513G>A (p.Gly505Ser) c.1654G>A (n.1654G>A) c.498G>A (n.498G>A) c.1651G>A (p.Gly551Ser) c.1162G>A (p.Gly388Ser) | gnomAD v4 COSMIC |
| 3 | g.93879253C>A | CA434464446 | PROS1 | c.1554G>T (p.Thr518=) c.1509G>T (p.Thr503=) n.1722G>T c.1512G>T (p.Thr504=) c.1653G>T (n.1653G>T) c.497G>T (n.497G>T) c.1650G>T (p.Thr550=) c.1161G>T (p.Thr387=) | COSMIC |
| 3 | g.93879253C= | CA1385030627 | PROS1 | c.1554G= (p.Thr518=) c.1509G= (p.Thr503=) n.1722G= c.1512G= (p.Thr504=) c.1653G= (n.1653G=) c.497G= (n.497G=) c.1650G= (p.Thr550=) c.1161G= (p.Thr387=) | |
| 3 | g.93879253C>G | CA434464447 | PROS1 | c.1554G>C (p.Thr518=) c.1509G>C (p.Thr503=) n.1722G>C c.1512G>C (p.Thr504=) c.1653G>C (n.1653G>C) c.497G>C (n.497G>C) c.1650G>C (p.Thr550=) c.1161G>C (p.Thr387=) | |
| 3 | g.93879253C>T | CA2503159 | PROS1 | c.1554G>A (p.Thr518=) c.1509G>A (p.Thr503=) n.1722G>A c.1512G>A (p.Thr504=) c.1653G>A (n.1653G>A) c.497G>A (n.497G>A) c.1650G>A (p.Thr550=) c.1161G>A (p.Thr387=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93879254del | CA2586972690 | PROS1 | c.1553del (p.Thr518ArgfsTer?) c.1508del (p.Thr503ArgfsTer?) n.1721del c.1511del (p.Thr504ArgfsTer?) c.1652del (n.1652del) c.496del (n.496del) c.1649del (p.Thr550ArgfsTer?) c.1160del (p.Thr387ArgfsTer?) | |
| 3 | g.93879254G>A | CA2503160 | PROS1 | c.1553C>T (p.Thr518Met) c.1508C>T (p.Thr503Met) n.1721C>T c.1511C>T (p.Thr504Met) c.1652C>T (n.1652C>T) c.496C>T (n.496C>T) c.1649C>T (p.Thr550Met) c.1160C>T (p.Thr387Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |