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.177257052T>A | CA362355515 | NSD1 | c.3994T>A (p.Tyr1332Asn) n.4450T>A c.4558T>A (p.Tyr1520Asn) n.4264T>A n.5014T>A c.4867T>A (p.Tyr1623Asn) c.4060T>A (p.Tyr1354Asn) c.361T>A (p.Tyr121Asn) c.4447T>A (p.Tyr1483Asn) c.3811T>A (p.Tyr1271Asn) c.601T>A (p.Tyr201Asn) | |
| 5 | g.177257052T>C | CA362355517 | NSD1 | c.3994T>C (p.Tyr1332His) n.4450T>C c.4558T>C (p.Tyr1520His) n.4264T>C n.5014T>C c.4867T>C (p.Tyr1623His) c.4060T>C (p.Tyr1354His) c.361T>C (p.Tyr121His) c.4447T>C (p.Tyr1483His) c.3811T>C (p.Tyr1271His) c.601T>C (p.Tyr201His) | |
| 5 | g.177257052T>G | CA362355521 | NSD1 | c.3994T>G (p.Tyr1332Asp) n.4450T>G c.4558T>G (p.Tyr1520Asp) n.4264T>G n.5014T>G c.4867T>G (p.Tyr1623Asp) c.4060T>G (p.Tyr1354Asp) c.361T>G (p.Tyr121Asp) c.4447T>G (p.Tyr1483Asp) c.3811T>G (p.Tyr1271Asp) c.601T>G (p.Tyr201Asp) | |
| 5 | g.177257053A= | CA1603536595 | NSD1 | c.3995A= (p.Tyr1332=) n.4451A= c.4559A= (p.Tyr1520=) n.4265A= n.5015A= c.4868A= (p.Tyr1623=) c.4061A= (p.Tyr1354=) c.362A= (p.Tyr121=) c.4448A= (p.Tyr1483=) c.3812A= (p.Tyr1271=) c.602A= (p.Tyr201=) | |
| 5 | g.177257053A>C | CA362355525 | NSD1 | c.3995A>C (p.Tyr1332Ser) n.4451A>C c.4559A>C (p.Tyr1520Ser) n.4265A>C n.5015A>C c.4868A>C (p.Tyr1623Ser) c.4061A>C (p.Tyr1354Ser) c.362A>C (p.Tyr121Ser) c.4448A>C (p.Tyr1483Ser) c.3812A>C (p.Tyr1271Ser) c.602A>C (p.Tyr201Ser) | dbSNP |
| 5 | g.177257053A>G | CA362355531 | NSD1 | c.3995A>G (p.Tyr1332Cys) n.4451A>G c.4559A>G (p.Tyr1520Cys) n.4265A>G n.5015A>G c.4868A>G (p.Tyr1623Cys) c.4061A>G (p.Tyr1354Cys) c.362A>G (p.Tyr121Cys) c.4448A>G (p.Tyr1483Cys) c.3812A>G (p.Tyr1271Cys) c.602A>G (p.Tyr201Cys) | |
| 5 | g.177257053A>T | CA362355534 | NSD1 | c.3995A>T (p.Tyr1332Phe) n.4451A>T c.4559A>T (p.Tyr1520Phe) n.4265A>T n.5015A>T c.4868A>T (p.Tyr1623Phe) c.4061A>T (p.Tyr1354Phe) c.362A>T (p.Tyr121Phe) c.4448A>T (p.Tyr1483Phe) c.3812A>T (p.Tyr1271Phe) c.602A>T (p.Tyr201Phe) | |
| 5 | g.177257053_177257054insAATTAGTAAGAATT | CA1603536598 | NSD1 | c.3995_3996insAATTAGTAAGAATT (p.Tyr1332Ter) n.4451_4452insAATTAGTAAGAATT c.4559_4560insAATTAGTAAGAATT (p.Tyr1520Ter) n.4265_4266insAATTAGTAAGAATT n.5015_5016insAATTAGTAAGAATT c.4868_4869insAATTAGTAAGAATT (p.Tyr1623Ter) c.4061_4062insAATTAGTAAGAATT (p.Tyr1354Ter) c.362_363insAATTAGTAAGAATT (p.Tyr121Ter) c.4448_4449insAATTAGTAAGAATT (p.Tyr1483Ter) c.3812_3813insAATTAGTAAGAATT (p.Tyr1271Ter) c.602_603insAATTAGTAAGAATT (p.Tyr201Ter) | dbSNP |
| 5 | g.177257054C>A | CA362355538 | NSD1 | c.3996C>A (p.Tyr1332Ter) n.4452C>A c.4560C>A (p.Tyr1520Ter) n.4266C>A n.5016C>A c.4869C>A (p.Tyr1623Ter) c.4062C>A (p.Tyr1354Ter) c.363C>A (p.Tyr121Ter) c.4449C>A (p.Tyr1483Ter) c.3813C>A (p.Tyr1271Ter) c.603C>A (p.Tyr201Ter) | |
| 5 | g.177257054C= | CA1603536601 | NSD1 | c.3996C= (p.Tyr1332=) n.4452C= c.4560C= (p.Tyr1520=) n.4266C= n.5016C= c.4869C= (p.Tyr1623=) c.4062C= (p.Tyr1354=) c.363C= (p.Tyr121=) c.4449C= (p.Tyr1483=) c.3813C= (p.Tyr1271=) c.603C= (p.Tyr201=) | |
| 5 | g.177257054C>G | CA362355540 | NSD1 | c.3996C>G (p.Tyr1332Ter) n.4452C>G c.4560C>G (p.Tyr1520Ter) n.4266C>G n.5016C>G c.4869C>G (p.Tyr1623Ter) c.4062C>G (p.Tyr1354Ter) c.363C>G (p.Tyr121Ter) c.4449C>G (p.Tyr1483Ter) c.3813C>G (p.Tyr1271Ter) c.603C>G (p.Tyr201Ter) | |
| 5 | g.177257054C>T | CA447726106 | NSD1 | c.3996C>T (p.Tyr1332=) n.4452C>T c.4560C>T (p.Tyr1520=) n.4266C>T n.5016C>T c.4869C>T (p.Tyr1623=) c.4062C>T (p.Tyr1354=) c.363C>T (p.Tyr121=) c.4449C>T (p.Tyr1483=) c.3813C>T (p.Tyr1271=) c.603C>T (p.Tyr201=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177257055C>A | CA362355553 | NSD1 | c.3997C>A (p.Pro1333Thr) n.4453C>A c.4561C>A (p.Pro1521Thr) n.4267C>A n.5017C>A c.4870C>A (p.Pro1624Thr) c.4063C>A (p.Pro1355Thr) c.364C>A (p.Pro122Thr) c.4450C>A (p.Pro1484Thr) c.3814C>A (p.Pro1272Thr) c.604C>A (p.Pro202Thr) | |
| 5 | g.177257055C= | CA1603536604 | NSD1 | c.3997C= (p.Pro1333=) n.4453C= c.4561C= (p.Pro1521=) n.4267C= n.5017C= c.4870C= (p.Pro1624=) c.4063C= (p.Pro1355=) c.364C= (p.Pro122=) c.4450C= (p.Pro1484=) c.3814C= (p.Pro1272=) c.604C= (p.Pro202=) | |
| 5 | g.177257055C>G | CA362355546 | NSD1 | c.3997C>G (p.Pro1333Ala) n.4453C>G c.4561C>G (p.Pro1521Ala) n.4267C>G n.5017C>G c.4870C>G (p.Pro1624Ala) c.4063C>G (p.Pro1355Ala) c.364C>G (p.Pro122Ala) c.4450C>G (p.Pro1484Ala) c.3814C>G (p.Pro1272Ala) c.604C>G (p.Pro202Ala) | |
| 5 | g.177257055C>T | CA362355549 | NSD1 | c.3997C>T (p.Pro1333Ser) n.4453C>T c.4561C>T (p.Pro1521Ser) n.4267C>T n.5017C>T c.4870C>T (p.Pro1624Ser) c.4063C>T (p.Pro1355Ser) c.364C>T (p.Pro122Ser) c.4450C>T (p.Pro1484Ser) c.3814C>T (p.Pro1272Ser) c.604C>T (p.Pro202Ser) | dbSNP |
| 5 | g.177257056C>A | CA362355573 | NSD1 | c.3998C>A (p.Pro1333Gln) n.4454C>A c.4562C>A (p.Pro1521Gln) n.4268C>A n.5018C>A c.4871C>A (p.Pro1624Gln) c.4064C>A (p.Pro1355Gln) c.365C>A (p.Pro122Gln) c.4451C>A (p.Pro1484Gln) c.3815C>A (p.Pro1272Gln) c.605C>A (p.Pro202Gln) | dbSNP COSMIC COSMIC |
| 5 | g.177257056C>G | CA362355576 | NSD1 | c.3998C>G (p.Pro1333Arg) n.4454C>G c.4562C>G (p.Pro1521Arg) n.4268C>G n.5018C>G c.4871C>G (p.Pro1624Arg) c.4064C>G (p.Pro1355Arg) c.365C>G (p.Pro122Arg) c.4451C>G (p.Pro1484Arg) c.3815C>G (p.Pro1272Arg) c.605C>G (p.Pro202Arg) | |
| 5 | g.177257056C>T | CA362355579 | NSD1 | c.3998C>T (p.Pro1333Leu) n.4454C>T c.4562C>T (p.Pro1521Leu) n.4268C>T n.5018C>T c.4871C>T (p.Pro1624Leu) c.4064C>T (p.Pro1355Leu) c.365C>T (p.Pro122Leu) c.4451C>T (p.Pro1484Leu) c.3815C>T (p.Pro1272Leu) c.605C>T (p.Pro202Leu) | |
| 5 | g.177257057A>C | CA447726109 | NSD1 | c.3999A>C (p.Pro1333=) n.4455A>C c.4563A>C (p.Pro1521=) n.4269A>C n.5019A>C c.4872A>C (p.Pro1624=) c.4065A>C (p.Pro1355=) c.366A>C (p.Pro122=) c.4452A>C (p.Pro1484=) c.3816A>C (p.Pro1272=) c.606A>C (p.Pro202=) | |
| 5 | g.177257057A>G | CA447726107 | NSD1 | c.3999A>G (p.Pro1333=) n.4455A>G c.4563A>G (p.Pro1521=) n.4269A>G n.5019A>G c.4872A>G (p.Pro1624=) c.4065A>G (p.Pro1355=) c.366A>G (p.Pro122=) c.4452A>G (p.Pro1484=) c.3816A>G (p.Pro1272=) c.606A>G (p.Pro202=) | |
| 5 | g.177257057A>T | CA447726108 | NSD1 | c.3999A>T (p.Pro1333=) n.4455A>T c.4563A>T (p.Pro1521=) n.4269A>T n.5019A>T c.4872A>T (p.Pro1624=) c.4065A>T (p.Pro1355=) c.366A>T (p.Pro122=) c.4452A>T (p.Pro1484=) c.3816A>T (p.Pro1272=) c.606A>T (p.Pro202=) | |
| 5 | g.177257058C>A | CA362355583 | NSD1 | c.4000C>A (p.Pro1334Thr) n.4456C>A c.4564C>A (p.Pro1522Thr) n.4270C>A n.5020C>A c.4873C>A (p.Pro1625Thr) c.4066C>A (p.Pro1356Thr) c.367C>A (p.Pro123Thr) c.4453C>A (p.Pro1485Thr) c.3817C>A (p.Pro1273Thr) c.607C>A (p.Pro203Thr) | |
| 5 | g.177257058C= | CA1603536607 | NSD1 | c.4000C= (p.Pro1334=) n.4456C= c.4564C= (p.Pro1522=) n.4270C= n.5020C= c.4873C= (p.Pro1625=) c.4066C= (p.Pro1356=) c.367C= (p.Pro123=) c.4453C= (p.Pro1485=) c.3817C= (p.Pro1273=) c.607C= (p.Pro203=) | |
| 5 | g.177257058C>G | CA362355593 | NSD1 | c.4000C>G (p.Pro1334Ala) n.4456C>G c.4564C>G (p.Pro1522Ala) n.4270C>G n.5020C>G c.4873C>G (p.Pro1625Ala) c.4066C>G (p.Pro1356Ala) c.367C>G (p.Pro123Ala) c.4453C>G (p.Pro1485Ala) c.3817C>G (p.Pro1273Ala) c.607C>G (p.Pro203Ala) | |
| 5 | g.177257058C>T | CA362355597 | NSD1 | c.4000C>T (p.Pro1334Ser) n.4456C>T c.4564C>T (p.Pro1522Ser) n.4270C>T n.5020C>T c.4873C>T (p.Pro1625Ser) c.4066C>T (p.Pro1356Ser) c.367C>T (p.Pro123Ser) c.4453C>T (p.Pro1485Ser) c.3817C>T (p.Pro1273Ser) c.607C>T (p.Pro203Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177257059C>A | CA362355623 | NSD1 | c.4001C>A (p.Pro1334His) n.4457C>A c.4565C>A (p.Pro1522His) n.4271C>A n.5021C>A c.4874C>A (p.Pro1625His) c.4067C>A (p.Pro1356His) c.368C>A (p.Pro123His) c.4454C>A (p.Pro1485His) c.3818C>A (p.Pro1273His) c.608C>A (p.Pro203His) | dbSNP |
| 5 | g.177257059C>G | CA362355617 | NSD1 | c.4001C>G (p.Pro1334Arg) n.4457C>G c.4565C>G (p.Pro1522Arg) n.4271C>G n.5021C>G c.4874C>G (p.Pro1625Arg) c.4067C>G (p.Pro1356Arg) c.368C>G (p.Pro123Arg) c.4454C>G (p.Pro1485Arg) c.3818C>G (p.Pro1273Arg) c.608C>G (p.Pro203Arg) | |
| 5 | g.177257059C>T | CA362355610 | NSD1 | c.4001C>T (p.Pro1334Leu) n.4457C>T c.4565C>T (p.Pro1522Leu) n.4271C>T n.5021C>T c.4874C>T (p.Pro1625Leu) c.4067C>T (p.Pro1356Leu) c.368C>T (p.Pro123Leu) c.4454C>T (p.Pro1485Leu) c.3818C>T (p.Pro1273Leu) c.608C>T (p.Pro203Leu) | gnomAD v4 |
| 5 | g.177257060C>A | CA447726110 | NSD1 | c.4002C>A (p.Pro1334=) n.4458C>A c.4566C>A (p.Pro1522=) n.4272C>A n.5022C>A c.4875C>A (p.Pro1625=) c.4068C>A (p.Pro1356=) c.369C>A (p.Pro123=) c.4455C>A (p.Pro1485=) c.3819C>A (p.Pro1273=) c.609C>A (p.Pro203=) | |
| 5 | g.177257060C>G | CA447726111 | NSD1 | c.4002C>G (p.Pro1334=) n.4458C>G c.4566C>G (p.Pro1522=) n.4272C>G n.5022C>G c.4875C>G (p.Pro1625=) c.4068C>G (p.Pro1356=) c.369C>G (p.Pro123=) c.4455C>G (p.Pro1485=) c.3819C>G (p.Pro1273=) c.609C>G (p.Pro203=) | |
| 5 | g.177257060C>T | CA447726112 | NSD1 | c.4002C>T (p.Pro1334=) n.4458C>T c.4566C>T (p.Pro1522=) n.4272C>T n.5022C>T c.4875C>T (p.Pro1625=) c.4068C>T (p.Pro1356=) c.369C>T (p.Pro123=) c.4455C>T (p.Pro1485=) c.3819C>T (p.Pro1273=) c.609C>T (p.Pro203=) | |
| 5 | g.177257061A= | CA1603536610 | NSD1 | c.4003A= (p.Thr1335=) n.4459A= c.4567A= (p.Thr1523=) n.4273A= n.5023A= c.4876A= (p.Thr1626=) c.4069A= (p.Thr1357=) c.370A= (p.Thr124=) c.4456A= (p.Thr1486=) c.3820A= (p.Thr1274=) c.610A= (p.Thr204=) | |
| 5 | g.177257061A>C | CA362355626 | NSD1 | c.4003A>C (p.Thr1335Pro) n.4459A>C c.4567A>C (p.Thr1523Pro) n.4273A>C n.5023A>C c.4876A>C (p.Thr1626Pro) c.4069A>C (p.Thr1357Pro) c.370A>C (p.Thr124Pro) c.4456A>C (p.Thr1486Pro) c.3820A>C (p.Thr1274Pro) c.610A>C (p.Thr204Pro) | |
| 5 | g.177257061A>G | CA132865225 | NSD1 | c.4003A>G (p.Thr1335Ala) n.4459A>G c.4567A>G (p.Thr1523Ala) n.4273A>G n.5023A>G c.4876A>G (p.Thr1626Ala) c.4069A>G (p.Thr1357Ala) c.370A>G (p.Thr124Ala) c.4456A>G (p.Thr1486Ala) c.3820A>G (p.Thr1274Ala) c.610A>G (p.Thr204Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177257061A>T | CA362355636 | NSD1 | c.4003A>T (p.Thr1335Ser) n.4459A>T c.4567A>T (p.Thr1523Ser) n.4273A>T n.5023A>T c.4876A>T (p.Thr1626Ser) c.4069A>T (p.Thr1357Ser) c.370A>T (p.Thr124Ser) c.4456A>T (p.Thr1486Ser) c.3820A>T (p.Thr1274Ser) c.610A>T (p.Thr204Ser) | |
| 5 | g.177257062C>A | CA362355640 | NSD1 | c.4004C>A (p.Thr1335Asn) n.4460C>A c.4568C>A (p.Thr1523Asn) n.4274C>A n.5024C>A c.4877C>A (p.Thr1626Asn) c.4070C>A (p.Thr1357Asn) c.371C>A (p.Thr124Asn) c.4457C>A (p.Thr1486Asn) c.3821C>A (p.Thr1274Asn) c.611C>A (p.Thr204Asn) | |
| 5 | g.177257062C>G | CA362355646 | NSD1 | c.4004C>G (p.Thr1335Ser) n.4460C>G c.4568C>G (p.Thr1523Ser) n.4274C>G n.5024C>G c.4877C>G (p.Thr1626Ser) c.4070C>G (p.Thr1357Ser) c.371C>G (p.Thr124Ser) c.4457C>G (p.Thr1486Ser) c.3821C>G (p.Thr1274Ser) c.611C>G (p.Thr204Ser) | |
| 5 | g.177257062C>T | CA362355649 | NSD1 | c.4004C>T (p.Thr1335Ile) n.4460C>T c.4568C>T (p.Thr1523Ile) n.4274C>T n.5024C>T c.4877C>T (p.Thr1626Ile) c.4070C>T (p.Thr1357Ile) c.371C>T (p.Thr124Ile) c.4457C>T (p.Thr1486Ile) c.3821C>T (p.Thr1274Ile) c.611C>T (p.Thr204Ile) | gnomAD v4 |
| 5 | g.177257063T>A | CA447726113 | NSD1 | c.4005T>A (p.Thr1335=) n.4461T>A c.4569T>A (p.Thr1523=) n.4275T>A n.5025T>A c.4878T>A (p.Thr1626=) c.4071T>A (p.Thr1357=) c.372T>A (p.Thr124=) c.4458T>A (p.Thr1486=) c.3822T>A (p.Thr1274=) c.612T>A (p.Thr204=) | |
| 5 | g.177257063T>C | CA447726114 | NSD1 | c.4005T>C (p.Thr1335=) n.4461T>C c.4569T>C (p.Thr1523=) n.4275T>C n.5025T>C c.4878T>C (p.Thr1626=) c.4071T>C (p.Thr1357=) c.372T>C (p.Thr124=) c.4458T>C (p.Thr1486=) c.3822T>C (p.Thr1274=) c.612T>C (p.Thr204=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177257063T>G | CA447726115 | NSD1 | c.4005T>G (p.Thr1335=) n.4461T>G c.4569T>G (p.Thr1523=) n.4275T>G n.5025T>G c.4878T>G (p.Thr1626=) c.4071T>G (p.Thr1357=) c.372T>G (p.Thr124=) c.4458T>G (p.Thr1486=) c.3822T>G (p.Thr1274=) c.612T>G (p.Thr204=) | COSMIC COSMIC |
| 5 | g.177257063T= | CA1603536613 | NSD1 | c.4005T= (p.Thr1335=) n.4461T= c.4569T= (p.Thr1523=) n.4275T= n.5025T= c.4878T= (p.Thr1626=) c.4071T= (p.Thr1357=) c.372T= (p.Thr124=) c.4458T= (p.Thr1486=) c.3822T= (p.Thr1274=) c.612T= (p.Thr204=) | |
| 5 | g.177257064G>A | CA362355666 | NSD1 | c.4006G>A (p.Val1336Ile) n.4462G>A c.4570G>A (p.Val1524Ile) n.4276G>A n.5026G>A c.4879G>A (p.Val1627Ile) c.4072G>A (p.Val1358Ile) c.373G>A (p.Val125Ile) c.4459G>A (p.Val1487Ile) c.3823G>A (p.Val1275Ile) c.613G>A (p.Val205Ile) | |
| 5 | g.177257064G>C | CA362355662 | NSD1 | c.4006G>C (p.Val1336Leu) n.4462G>C c.4570G>C (p.Val1524Leu) n.4276G>C n.5026G>C c.4879G>C (p.Val1627Leu) c.4072G>C (p.Val1358Leu) c.373G>C (p.Val125Leu) c.4459G>C (p.Val1487Leu) c.3823G>C (p.Val1275Leu) c.613G>C (p.Val205Leu) | |
| 5 | g.177257064G>T | CA362355665 | NSD1 | c.4006G>T (p.Val1336Phe) n.4462G>T c.4570G>T (p.Val1524Phe) n.4276G>T n.5026G>T c.4879G>T (p.Val1627Phe) c.4072G>T (p.Val1358Phe) c.373G>T (p.Val125Phe) c.4459G>T (p.Val1487Phe) c.3823G>T (p.Val1275Phe) c.613G>T (p.Val205Phe) | |
| 5 | g.177257065T>A | CA362355667 | NSD1 | c.4007T>A (p.Val1336Asp) n.4463T>A c.4571T>A (p.Val1524Asp) n.4277T>A n.5027T>A c.4880T>A (p.Val1627Asp) c.4073T>A (p.Val1358Asp) c.374T>A (p.Val125Asp) c.4460T>A (p.Val1487Asp) c.3824T>A (p.Val1275Asp) c.614T>A (p.Val205Asp) | |
| 5 | g.177257065T>C | CA362355668 | NSD1 | c.4007T>C (p.Val1336Ala) n.4463T>C c.4571T>C (p.Val1524Ala) n.4277T>C n.5027T>C c.4880T>C (p.Val1627Ala) c.4073T>C (p.Val1358Ala) c.374T>C (p.Val125Ala) c.4460T>C (p.Val1487Ala) c.3824T>C (p.Val1275Ala) c.614T>C (p.Val205Ala) | |
| 5 | g.177257065T>G | CA362355669 | NSD1 | c.4007T>G (p.Val1336Gly) n.4463T>G c.4571T>G (p.Val1524Gly) n.4277T>G n.5027T>G c.4880T>G (p.Val1627Gly) c.4073T>G (p.Val1358Gly) c.374T>G (p.Val125Gly) c.4460T>G (p.Val1487Gly) c.3824T>G (p.Val1275Gly) c.614T>G (p.Val205Gly) | |
| 5 | g.177257066T>A | CA447726116 | NSD1 | c.4008T>A (p.Val1336=) n.4464T>A c.4572T>A (p.Val1524=) n.4278T>A n.5028T>A c.4881T>A (p.Val1627=) c.4074T>A (p.Val1358=) c.375T>A (p.Val125=) c.4461T>A (p.Val1487=) c.3825T>A (p.Val1275=) c.615T>A (p.Val205=) |