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 |
|---|---|---|---|---|---|
| 5 | g.37020537G>A | CA359486694 | NIPBL | c.5089G>A (p.Asp1697Asn) c.1-44041G>A (n.1-44041G>A) c.4345G>A (p.Asp1449Asn) c.4891G>A (p.Asp1631Asn) c.4708G>A (p.Asp1570Asn) c.4429G>A (p.Asp1477Asn) c.3472G>A (p.Asp1158Asn) c.3463G>A (p.Asp1155Asn) | |
| 5 | g.37020537G>C | CA359486697 | NIPBL | c.5089G>C (p.Asp1697His) c.1-44041G>C (n.1-44041G>C) c.4345G>C (p.Asp1449His) c.4891G>C (p.Asp1631His) c.4708G>C (p.Asp1570His) c.4429G>C (p.Asp1477His) c.3472G>C (p.Asp1158His) c.3463G>C (p.Asp1155His) | dbSNP gnomAD v4 |
| 5 | g.37020537G= | CA1539619230 | NIPBL | c.5089G= (p.Asp1697=) c.1-44041G= (n.1-44041G=) c.4345G= (p.Asp1449=) c.4891G= (p.Asp1631=) c.4708G= (p.Asp1570=) c.4429G= (p.Asp1477=) c.3472G= (p.Asp1158=) c.3463G= (p.Asp1155=) | |
| 5 | g.37020537G>T | CA359486699 | NIPBL | c.5089G>T (p.Asp1697Tyr) c.1-44041G>T (n.1-44041G>T) c.4345G>T (p.Asp1449Tyr) c.4891G>T (p.Asp1631Tyr) c.4708G>T (p.Asp1570Tyr) c.4429G>T (p.Asp1477Tyr) c.3472G>T (p.Asp1158Tyr) c.3463G>T (p.Asp1155Tyr) | |
| 5 | g.37020538A>C | CA359486702 | NIPBL | c.5090A>C (p.Asp1697Ala) c.1-44040A>C (n.1-44040A>C) c.4346A>C (p.Asp1449Ala) c.4892A>C (p.Asp1631Ala) c.4709A>C (p.Asp1570Ala) c.4430A>C (p.Asp1477Ala) c.3473A>C (p.Asp1158Ala) c.3464A>C (p.Asp1155Ala) | |
| 5 | g.37020538A>G | CA359486704 | NIPBL | c.5090A>G (p.Asp1697Gly) c.1-44040A>G (n.1-44040A>G) c.4346A>G (p.Asp1449Gly) c.4892A>G (p.Asp1631Gly) c.4709A>G (p.Asp1570Gly) c.4430A>G (p.Asp1477Gly) c.3473A>G (p.Asp1158Gly) c.3464A>G (p.Asp1155Gly) | gnomAD v4 |
| 5 | g.37020538A>T | CA359486707 | NIPBL | c.5090A>T (p.Asp1697Val) c.1-44040A>T (n.1-44040A>T) c.4346A>T (p.Asp1449Val) c.4892A>T (p.Asp1631Val) c.4709A>T (p.Asp1570Val) c.4430A>T (p.Asp1477Val) c.3473A>T (p.Asp1158Val) c.3464A>T (p.Asp1155Val) | gnomAD v4 |
| 5 | g.37020539T>A | CA359486709 | NIPBL | c.5091T>A (p.Asp1697Glu) c.1-44039T>A (n.1-44039T>A) c.4347T>A (p.Asp1449Glu) c.4893T>A (p.Asp1631Glu) c.4710T>A (p.Asp1570Glu) c.4431T>A (p.Asp1477Glu) c.3474T>A (p.Asp1158Glu) c.3465T>A (p.Asp1155Glu) | |
| 5 | g.37020539T>C | CA443904970 | NIPBL | c.5091T>C (p.Asp1697=) c.1-44039T>C (n.1-44039T>C) c.4347T>C (p.Asp1449=) c.4893T>C (p.Asp1631=) c.4710T>C (p.Asp1570=) c.4431T>C (p.Asp1477=) c.3474T>C (p.Asp1158=) c.3465T>C (p.Asp1155=) | |
| 5 | g.37020539T>G | CA359486712 | NIPBL | c.5091T>G (p.Asp1697Glu) c.1-44039T>G (n.1-44039T>G) c.4347T>G (p.Asp1449Glu) c.4893T>G (p.Asp1631Glu) c.4710T>G (p.Asp1570Glu) c.4431T>G (p.Asp1477Glu) c.3474T>G (p.Asp1158Glu) c.3465T>G (p.Asp1155Glu) | |
| 5 | g.37020539_37020542delinsTGAA | CA1539619232 | NIPBL | c.5091_5094delinsTGAA (p.Asp1697=) c.1-44039_1-44036delinsTGAA (n.1-44039_1-44036delinsTGAA) c.4347_4350delinsTGAA (p.Asp1449=) c.4893_4896delinsTGAA (p.Asp1631=) c.4710_4713delinsTGAA (p.Asp1570=) c.4431_4434delinsTGAA (p.Asp1477=) c.3474_3477delinsTGAA (p.Asp1158=) c.3465_3468delinsTGAA (p.Asp1155=) | |
| 5 | g.37020540G>A | CA359486715 | NIPBL | c.5092G>A (p.Glu1698Lys) c.1-44038G>A (n.1-44038G>A) c.4348G>A (p.Glu1450Lys) c.4894G>A (p.Glu1632Lys) c.4711G>A (p.Glu1571Lys) c.4432G>A (p.Glu1478Lys) c.3475G>A (p.Glu1159Lys) c.3466G>A (p.Glu1156Lys) | |
| 5 | g.37020540G>C | CA359486716 | NIPBL | c.5092G>C (p.Glu1698Gln) c.1-44038G>C (n.1-44038G>C) c.4348G>C (p.Glu1450Gln) c.4894G>C (p.Glu1632Gln) c.4711G>C (p.Glu1571Gln) c.4432G>C (p.Glu1478Gln) c.3475G>C (p.Glu1159Gln) c.3466G>C (p.Glu1156Gln) | |
| 5 | g.37020540G>T | CA359486719 | NIPBL | c.5092G>T (p.Glu1698Ter) c.1-44038G>T (n.1-44038G>T) c.4348G>T (p.Glu1450Ter) c.4894G>T (p.Glu1632Ter) c.4711G>T (p.Glu1571Ter) c.4432G>T (p.Glu1478Ter) c.3475G>T (p.Glu1159Ter) c.3466G>T (p.Glu1156Ter) | |
| 5 | g.37020543_37020545del | CA559015848 | NIPBL | c.5095_5097del (p.Glu1699del) c.1-44035_1-44033del (n.1-44035_1-44033del) c.4351_4353del (p.Glu1451del) c.4897_4899del (p.Glu1633del) c.4714_4716del (p.Glu1572del) c.4435_4437del (p.Glu1479del) c.3478_3480del (p.Glu1160del) c.3469_3471del (p.Glu1157del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020541A>C | CA359486728 | NIPBL | c.5093A>C (p.Glu1698Ala) c.1-44037A>C (n.1-44037A>C) c.4349A>C (p.Glu1450Ala) c.4895A>C (p.Glu1632Ala) c.4712A>C (p.Glu1571Ala) c.4433A>C (p.Glu1478Ala) c.3476A>C (p.Glu1159Ala) c.3467A>C (p.Glu1156Ala) | |
| 5 | g.37020541A>G | CA359486726 | NIPBL | c.5093A>G (p.Glu1698Gly) c.1-44037A>G (n.1-44037A>G) c.4349A>G (p.Glu1450Gly) c.4895A>G (p.Glu1632Gly) c.4712A>G (p.Glu1571Gly) c.4433A>G (p.Glu1478Gly) c.3476A>G (p.Glu1159Gly) c.3467A>G (p.Glu1156Gly) | |
| 5 | g.37020541A>T | CA359486723 | NIPBL | c.5093A>T (p.Glu1698Val) c.1-44037A>T (n.1-44037A>T) c.4349A>T (p.Glu1450Val) c.4895A>T (p.Glu1632Val) c.4712A>T (p.Glu1571Val) c.4433A>T (p.Glu1478Val) c.3476A>T (p.Glu1159Val) c.3467A>T (p.Glu1156Val) | |
| 5 | g.37020542A>C | CA359486730 | NIPBL | c.5094A>C (p.Glu1698Asp) c.1-44036A>C (n.1-44036A>C) c.4350A>C (p.Glu1450Asp) c.4896A>C (p.Glu1632Asp) c.4713A>C (p.Glu1571Asp) c.4434A>C (p.Glu1478Asp) c.3477A>C (p.Glu1159Asp) c.3468A>C (p.Glu1156Asp) | |
| 5 | g.37020542A>G | CA443904974 | NIPBL | c.5094A>G (p.Glu1698=) c.1-44036A>G (n.1-44036A>G) c.4350A>G (p.Glu1450=) c.4896A>G (p.Glu1632=) c.4713A>G (p.Glu1571=) c.4434A>G (p.Glu1478=) c.3477A>G (p.Glu1159=) c.3468A>G (p.Glu1156=) | |
| 5 | g.37020542A>T | CA359486731 | NIPBL | c.5094A>T (p.Glu1698Asp) c.1-44036A>T (n.1-44036A>T) c.4350A>T (p.Glu1450Asp) c.4896A>T (p.Glu1632Asp) c.4713A>T (p.Glu1571Asp) c.4434A>T (p.Glu1478Asp) c.3477A>T (p.Glu1159Asp) c.3468A>T (p.Glu1156Asp) | |
| 5 | g.37020543G>A | CA359486740 | NIPBL | c.5095G>A (p.Glu1699Lys) c.1-44035G>A (n.1-44035G>A) c.4351G>A (p.Glu1451Lys) c.4897G>A (p.Glu1633Lys) c.4714G>A (p.Glu1572Lys) c.4435G>A (p.Glu1479Lys) c.3478G>A (p.Glu1160Lys) c.3469G>A (p.Glu1157Lys) | |
| 5 | g.37020543G>C | CA359486741 | NIPBL | c.5095G>C (p.Glu1699Gln) c.1-44035G>C (n.1-44035G>C) c.4351G>C (p.Glu1451Gln) c.4897G>C (p.Glu1633Gln) c.4714G>C (p.Glu1572Gln) c.4435G>C (p.Glu1479Gln) c.3478G>C (p.Glu1160Gln) c.3469G>C (p.Glu1157Gln) | |
| 5 | g.37020543G>T | CA359486744 | NIPBL | c.5095G>T (p.Glu1699Ter) c.1-44035G>T (n.1-44035G>T) c.4351G>T (p.Glu1451Ter) c.4897G>T (p.Glu1633Ter) c.4714G>T (p.Glu1572Ter) c.4435G>T (p.Glu1479Ter) c.3478G>T (p.Glu1160Ter) c.3469G>T (p.Glu1157Ter) | |
| 5 | g.37020544A>C | CA359486747 | NIPBL | c.5096A>C (p.Glu1699Ala) c.1-44034A>C (n.1-44034A>C) c.4352A>C (p.Glu1451Ala) c.4898A>C (p.Glu1633Ala) c.4715A>C (p.Glu1572Ala) c.4436A>C (p.Glu1479Ala) c.3479A>C (p.Glu1160Ala) c.3470A>C (p.Glu1157Ala) | |
| 5 | g.37020544A>G | CA359486750 | NIPBL | c.5096A>G (p.Glu1699Gly) c.1-44034A>G (n.1-44034A>G) c.4352A>G (p.Glu1451Gly) c.4898A>G (p.Glu1633Gly) c.4715A>G (p.Glu1572Gly) c.4436A>G (p.Glu1479Gly) c.3479A>G (p.Glu1160Gly) c.3470A>G (p.Glu1157Gly) | |
| 5 | g.37020544A>T | CA359486752 | NIPBL | c.5096A>T (p.Glu1699Val) c.1-44034A>T (n.1-44034A>T) c.4352A>T (p.Glu1451Val) c.4898A>T (p.Glu1633Val) c.4715A>T (p.Glu1572Val) c.4436A>T (p.Glu1479Val) c.3479A>T (p.Glu1160Val) c.3470A>T (p.Glu1157Val) | |
| 5 | g.37020545A>C | CA359486756 | NIPBL | c.5097A>C (p.Glu1699Asp) c.1-44033A>C (n.1-44033A>C) c.4353A>C (p.Glu1451Asp) c.4899A>C (p.Glu1633Asp) c.4716A>C (p.Glu1572Asp) c.4437A>C (p.Glu1479Asp) c.3480A>C (p.Glu1160Asp) c.3471A>C (p.Glu1157Asp) | |
| 5 | g.37020545A>G | CA443904978 | NIPBL | c.5097A>G (p.Glu1699=) c.1-44033A>G (n.1-44033A>G) c.4353A>G (p.Glu1451=) c.4899A>G (p.Glu1633=) c.4716A>G (p.Glu1572=) c.4437A>G (p.Glu1479=) c.3480A>G (p.Glu1160=) c.3471A>G (p.Glu1157=) | gnomAD v4 |
| 5 | g.37020545A>T | CA359486759 | NIPBL | c.5097A>T (p.Glu1699Asp) c.1-44033A>T (n.1-44033A>T) c.4353A>T (p.Glu1451Asp) c.4899A>T (p.Glu1633Asp) c.4716A>T (p.Glu1572Asp) c.4437A>T (p.Glu1479Asp) c.3480A>T (p.Glu1160Asp) c.3471A>T (p.Glu1157Asp) | |
| 5 | g.37020546T>A | CA359486762 | NIPBL | c.5098T>A (p.Ser1700Thr) c.1-44032T>A (n.1-44032T>A) c.4354T>A (p.Ser1452Thr) c.4900T>A (p.Ser1634Thr) c.4717T>A (p.Ser1573Thr) c.4438T>A (p.Ser1480Thr) c.3481T>A (p.Ser1161Thr) c.3472T>A (p.Ser1158Thr) | |
| 5 | g.37020546T>C | CA359486763 | NIPBL | c.5098T>C (p.Ser1700Pro) c.1-44032T>C (n.1-44032T>C) c.4354T>C (p.Ser1452Pro) c.4900T>C (p.Ser1634Pro) c.4717T>C (p.Ser1573Pro) c.4438T>C (p.Ser1480Pro) c.3481T>C (p.Ser1161Pro) c.3472T>C (p.Ser1158Pro) | |
| 5 | g.37020546T>G | CA359486766 | NIPBL | c.5098T>G (p.Ser1700Ala) c.1-44032T>G (n.1-44032T>G) c.4354T>G (p.Ser1452Ala) c.4900T>G (p.Ser1634Ala) c.4717T>G (p.Ser1573Ala) c.4438T>G (p.Ser1480Ala) c.3481T>G (p.Ser1161Ala) c.3472T>G (p.Ser1158Ala) | |
| 5 | g.37020547C>A | CA359486774 | NIPBL | c.5099C>A (p.Ser1700Ter) c.1-44031C>A (n.1-44031C>A) c.4355C>A (p.Ser1452Ter) c.4901C>A (p.Ser1634Ter) c.4718C>A (p.Ser1573Ter) c.4439C>A (p.Ser1480Ter) c.3482C>A (p.Ser1161Ter) c.3473C>A (p.Ser1158Ter) | |
| 5 | g.37020547C= | CA1539619235 | NIPBL | c.5099C= (p.Ser1700=) c.1-44031C= (n.1-44031C=) c.4355C= (p.Ser1452=) c.4901C= (p.Ser1634=) c.4718C= (p.Ser1573=) c.4439C= (p.Ser1480=) c.3482C= (p.Ser1161=) c.3473C= (p.Ser1158=) | |
| 5 | g.37020547C>G | CA359486772 | NIPBL | c.5099C>G (p.Ser1700Ter) c.1-44031C>G (n.1-44031C>G) c.4355C>G (p.Ser1452Ter) c.4901C>G (p.Ser1634Ter) c.4718C>G (p.Ser1573Ter) c.4439C>G (p.Ser1480Ter) c.3482C>G (p.Ser1161Ter) c.3473C>G (p.Ser1158Ter) | |
| 5 | g.37020547C>T | CA117027979 | NIPBL | c.5099C>T (p.Ser1700Leu) c.1-44031C>T (n.1-44031C>T) c.4355C>T (p.Ser1452Leu) c.4901C>T (p.Ser1634Leu) c.4718C>T (p.Ser1573Leu) c.4439C>T (p.Ser1480Leu) c.3482C>T (p.Ser1161Leu) c.3473C>T (p.Ser1158Leu) | dbSNP COSMIC COSMIC |
| 5 | g.37020548A= | CA1539619239 | NIPBL | c.5100A= (p.Ser1700=) c.1-44030A= (n.1-44030A=) c.4356A= (p.Ser1452=) c.4902A= (p.Ser1634=) c.4719A= (p.Ser1573=) c.4440A= (p.Ser1480=) c.3483A= (p.Ser1161=) c.3474A= (p.Ser1158=) | |
| 5 | g.37020548A>C | CA443904984 | NIPBL | c.5100A>C (p.Ser1700=) c.1-44030A>C (n.1-44030A>C) c.4356A>C (p.Ser1452=) c.4902A>C (p.Ser1634=) c.4719A>C (p.Ser1573=) c.4440A>C (p.Ser1480=) c.3483A>C (p.Ser1161=) c.3474A>C (p.Ser1158=) | |
| 5 | g.37020548A>G | CA443904982 | NIPBL | c.5100A>G (p.Ser1700=) c.1-44030A>G (n.1-44030A>G) c.4356A>G (p.Ser1452=) c.4902A>G (p.Ser1634=) c.4719A>G (p.Ser1573=) c.4440A>G (p.Ser1480=) c.3483A>G (p.Ser1161=) c.3474A>G (p.Ser1158=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020548A>T | CA443904983 | NIPBL | c.5100A>T (p.Ser1700=) c.1-44030A>T (n.1-44030A>T) c.4356A>T (p.Ser1452=) c.4902A>T (p.Ser1634=) c.4719A>T (p.Ser1573=) c.4440A>T (p.Ser1480=) c.3483A>T (p.Ser1161=) c.3474A>T (p.Ser1158=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020549T>A | CA359486776 | NIPBL | c.5101T>A (p.Ser1701Thr) c.1-44029T>A (n.1-44029T>A) c.4357T>A (p.Ser1453Thr) c.4903T>A (p.Ser1635Thr) c.4720T>A (p.Ser1574Thr) c.4441T>A (p.Ser1481Thr) c.3484T>A (p.Ser1162Thr) c.3475T>A (p.Ser1159Thr) | |
| 5 | g.37020549T>C | CA3236699 | NIPBL | c.5101T>C (p.Ser1701Pro) c.1-44029T>C (n.1-44029T>C) c.4357T>C (p.Ser1453Pro) c.4903T>C (p.Ser1635Pro) c.4720T>C (p.Ser1574Pro) c.4441T>C (p.Ser1481Pro) c.3484T>C (p.Ser1162Pro) c.3475T>C (p.Ser1159Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020549T>G | CA359486778 | NIPBL | c.5101T>G (p.Ser1701Ala) c.1-44029T>G (n.1-44029T>G) c.4357T>G (p.Ser1453Ala) c.4903T>G (p.Ser1635Ala) c.4720T>G (p.Ser1574Ala) c.4441T>G (p.Ser1481Ala) c.3484T>G (p.Ser1162Ala) c.3475T>G (p.Ser1159Ala) | |
| 5 | g.37020549T= | CA1539619243 | NIPBL | c.5101T= (p.Ser1701=) c.1-44029T= (n.1-44029T=) c.4357T= (p.Ser1453=) c.4903T= (p.Ser1635=) c.4720T= (p.Ser1574=) c.4441T= (p.Ser1481=) c.3484T= (p.Ser1162=) c.3475T= (p.Ser1159=) | |
| 5 | g.37020550C>A | CA359486781 | NIPBL | c.5102C>A (p.Ser1701Tyr) c.1-44028C>A (n.1-44028C>A) c.4358C>A (p.Ser1453Tyr) c.4904C>A (p.Ser1635Tyr) c.4721C>A (p.Ser1574Tyr) c.4442C>A (p.Ser1481Tyr) c.3485C>A (p.Ser1162Tyr) c.3476C>A (p.Ser1159Tyr) | |
| 5 | g.37020550C>G | CA359486784 | NIPBL | c.5102C>G (p.Ser1701Cys) c.1-44028C>G (n.1-44028C>G) c.4358C>G (p.Ser1453Cys) c.4904C>G (p.Ser1635Cys) c.4721C>G (p.Ser1574Cys) c.4442C>G (p.Ser1481Cys) c.3485C>G (p.Ser1162Cys) c.3476C>G (p.Ser1159Cys) | gnomAD v4 |
| 5 | g.37020550C>T | CA359486785 | NIPBL | c.5102C>T (p.Ser1701Phe) c.1-44028C>T (n.1-44028C>T) c.4358C>T (p.Ser1453Phe) c.4904C>T (p.Ser1635Phe) c.4721C>T (p.Ser1574Phe) c.4442C>T (p.Ser1481Phe) c.3485C>T (p.Ser1162Phe) c.3476C>T (p.Ser1159Phe) | gnomAD v4 |
| 5 | g.37020551T>A | CA443904989 | NIPBL | c.5103T>A (p.Ser1701=) c.1-44027T>A (n.1-44027T>A) c.4359T>A (p.Ser1453=) c.4905T>A (p.Ser1635=) c.4722T>A (p.Ser1574=) c.4443T>A (p.Ser1481=) c.3486T>A (p.Ser1162=) c.3477T>A (p.Ser1159=) | |
| 5 | g.37020551T>C | CA443904987 | NIPBL | c.5103T>C (p.Ser1701=) c.1-44027T>C (n.1-44027T>C) c.4359T>C (p.Ser1453=) c.4905T>C (p.Ser1635=) c.4722T>C (p.Ser1574=) c.4443T>C (p.Ser1481=) c.3486T>C (p.Ser1162=) c.3477T>C (p.Ser1159=) | gnomAD v4 |