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 |
|---|---|---|---|---|---|
| 1 | g.10365470C>A | CA582126 | KIF1B | c.4637C>A (p.Ser1546Tyr) c.4499C>A (p.Ser1500Tyr) c.4574C>A (p.Ser1525Tyr) c.4436C>A (p.Ser1479Tyr) n.305C>A c.4532C>A (p.Ser1511Tyr) c.4496C>A (p.Ser1499Tyr) c.619C>A n.355+911G>T n.230+911G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10365470C= | CA1153161493 | KIF1B | c.4637C= (p.Ser1546=) c.4499C= (p.Ser1500=) c.4574C= (p.Ser1525=) c.4436C= (p.Ser1479=) n.305C= c.4532C= (p.Ser1511=) c.4496C= (p.Ser1499=) c.619C= n.355+911G= n.230+911G= | |
| 1 | g.10365470C>G | CA338321928 | KIF1B | c.4637C>G (p.Ser1546Cys) c.4499C>G (p.Ser1500Cys) c.4574C>G (p.Ser1525Cys) c.4436C>G (p.Ser1479Cys) n.305C>G c.4532C>G (p.Ser1511Cys) c.4496C>G (p.Ser1499Cys) c.619C>G n.355+911G>C n.230+911G>C | |
| 1 | g.10365470C>T | CA582125 | KIF1B | c.4637C>T (p.Ser1546Phe) c.4499C>T (p.Ser1500Phe) c.4574C>T (p.Ser1525Phe) c.4436C>T (p.Ser1479Phe) n.305C>T c.4532C>T (p.Ser1511Phe) c.4496C>T (p.Ser1499Phe) c.619C>T n.355+911G>A n.230+911G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10365470_10365471delinsAT | CA915940876 | KIF1B | c.4637_4638delinsAT (p.Ser1546Tyr) c.4499_4500delinsAT (p.Ser1500Tyr) c.4574_4575delinsAT (p.Ser1525Tyr) c.4436_4437delinsAT (p.Ser1479Tyr) n.305_306delinsAT c.4532_4533delinsAT (p.Ser1511Tyr) c.4496_4497delinsAT (p.Ser1499Tyr) c.619_620delinsAT n.355+910_355+911delinsAT n.230+910_230+911delinsAT | ClinVar dbSNP |
| 1 | g.10365470_10365471delinsCC | CA1153161521 | KIF1B | c.4637_4638delinsCC (p.Ser1546=) c.4499_4500delinsCC (p.Ser1500=) c.4574_4575delinsCC (p.Ser1525=) c.4436_4437delinsCC (p.Ser1479=) n.305_306delinsCC c.4532_4533delinsCC (p.Ser1511=) c.4496_4497delinsCC (p.Ser1499=) c.619_620delinsCC n.355+910_355+911delinsGG n.230+910_230+911delinsGG | |
| 1 | g.10365471C>A | CA415886302 | KIF1B | c.4638C>A (p.Ser1546=) c.4500C>A (p.Ser1500=) c.4575C>A (p.Ser1525=) c.4437C>A (p.Ser1479=) n.306C>A c.4533C>A (p.Ser1511=) c.4497C>A (p.Ser1499=) c.620C>A n.355+910G>T n.230+910G>T | |
| 1 | g.10365471C= | CA1153161527 | KIF1B | c.4638C= (p.Ser1546=) c.4500C= (p.Ser1500=) c.4575C= (p.Ser1525=) c.4437C= (p.Ser1479=) n.306C= c.4533C= (p.Ser1511=) c.4497C= (p.Ser1499=) c.620C= n.355+910G= n.230+910G= | |
| 1 | g.10365471C>G | CA415886304 | KIF1B | c.4638C>G (p.Ser1546=) c.4500C>G (p.Ser1500=) c.4575C>G (p.Ser1525=) c.4437C>G (p.Ser1479=) n.306C>G c.4533C>G (p.Ser1511=) c.4497C>G (p.Ser1499=) c.620C>G n.355+910G>C n.230+910G>C | |
| 1 | g.10365471C>T | CA582127 | KIF1B | c.4638C>T (p.Ser1546=) c.4500C>T (p.Ser1500=) c.4575C>T (p.Ser1525=) c.4437C>T (p.Ser1479=) n.306C>T c.4533C>T (p.Ser1511=) c.4497C>T (p.Ser1499=) c.620C>T n.355+910G>A n.230+910G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10365472C>A | CA338321934 | KIF1B | c.4639C>A (p.Leu1547Met) c.4501C>A (p.Leu1501Met) c.4576C>A (p.Leu1526Met) c.4438C>A (p.Leu1480Met) n.307C>A c.4534C>A (p.Leu1512Met) c.4498C>A (p.Leu1500Met) c.621C>A n.355+909G>T n.230+909G>T | |
| 1 | g.10365472C>G | CA338321936 | KIF1B | c.4639C>G (p.Leu1547Val) c.4501C>G (p.Leu1501Val) c.4576C>G (p.Leu1526Val) c.4438C>G (p.Leu1480Val) n.307C>G c.4534C>G (p.Leu1512Val) c.4498C>G (p.Leu1500Val) c.621C>G n.355+909G>C n.230+909G>C | ClinVar |
| 1 | g.10365472C>T | CA415886305 | KIF1B | c.4639C>T (p.Leu1547=) c.4501C>T (p.Leu1501=) c.4576C>T (p.Leu1526=) c.4438C>T (p.Leu1480=) n.307C>T c.4534C>T (p.Leu1512=) c.4498C>T (p.Leu1500=) c.621C>T n.355+909G>A n.230+909G>A | |
| 1 | g.10365473T>A | CA338321940 | KIF1B | c.4640T>A (p.Leu1547Gln) c.4502T>A (p.Leu1501Gln) c.4577T>A (p.Leu1526Gln) c.4439T>A (p.Leu1480Gln) n.308T>A c.4535T>A (p.Leu1512Gln) c.4499T>A (p.Leu1500Gln) c.622T>A n.355+908A>T n.230+908A>T | |
| 1 | g.10365473T>C | CA338321942 | KIF1B | c.4640T>C (p.Leu1547Pro) c.4502T>C (p.Leu1501Pro) c.4577T>C (p.Leu1526Pro) c.4439T>C (p.Leu1480Pro) n.308T>C c.4535T>C (p.Leu1512Pro) c.4499T>C (p.Leu1500Pro) c.622T>C n.355+908A>G n.230+908A>G | ClinVar gnomAD v4 COSMIC |
| 1 | g.10365473T>G | CA338321944 | KIF1B | c.4640T>G (p.Leu1547Arg) c.4502T>G (p.Leu1501Arg) c.4577T>G (p.Leu1526Arg) c.4439T>G (p.Leu1480Arg) n.308T>G c.4535T>G (p.Leu1512Arg) c.4499T>G (p.Leu1500Arg) c.622T>G n.355+908A>C n.230+908A>C | |
| 1 | g.10365474G>A | CA415886306 | KIF1B | c.4641G>A (p.Leu1547=) c.4503G>A (p.Leu1501=) c.4578G>A (p.Leu1526=) c.4440G>A (p.Leu1480=) n.309G>A c.4536G>A (p.Leu1512=) c.4500G>A (p.Leu1500=) c.623G>A n.355+907C>T n.230+907C>T | gnomAD v4 COSMIC |
| 1 | g.10365474G>C | CA415886307 | KIF1B | c.4641G>C (p.Leu1547=) c.4503G>C (p.Leu1501=) c.4578G>C (p.Leu1526=) c.4440G>C (p.Leu1480=) n.309G>C c.4536G>C (p.Leu1512=) c.4500G>C (p.Leu1500=) c.623G>C n.355+907C>G n.230+907C>G | |
| 1 | g.10365474G>T | CA415886308 | KIF1B | c.4641G>T (p.Leu1547=) c.4503G>T (p.Leu1501=) c.4578G>T (p.Leu1526=) c.4440G>T (p.Leu1480=) n.309G>T c.4536G>T (p.Leu1512=) c.4500G>T (p.Leu1500=) c.623G>T n.355+907C>A n.230+907C>A | |
| 1 | g.10365475A= | CA1153161533 | KIF1B | c.4642A= (p.Ser1548=) c.4504A= (p.Ser1502=) c.4579A= (p.Ser1527=) c.4441A= (p.Ser1481=) n.310A= c.4537A= (p.Ser1513=) c.4501A= (p.Ser1501=) c.624A= n.355+906T= n.230+906T= | |
| 1 | g.10365475A>C | CA338321948 | KIF1B | c.4642A>C (p.Ser1548Arg) c.4504A>C (p.Ser1502Arg) c.4579A>C (p.Ser1527Arg) c.4441A>C (p.Ser1481Arg) n.310A>C c.4537A>C (p.Ser1513Arg) c.4501A>C (p.Ser1501Arg) c.624A>C n.355+906T>G n.230+906T>G | |
| 1 | g.10365475A>G | CA582128 | KIF1B | c.4642A>G (p.Ser1548Gly) c.4504A>G (p.Ser1502Gly) c.4579A>G (p.Ser1527Gly) c.4441A>G (p.Ser1481Gly) n.310A>G c.4537A>G (p.Ser1513Gly) c.4501A>G (p.Ser1501Gly) c.624A>G n.355+906T>C n.230+906T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10365475A>T | CA338321947 | KIF1B | c.4642A>T (p.Ser1548Cys) c.4504A>T (p.Ser1502Cys) c.4579A>T (p.Ser1527Cys) c.4441A>T (p.Ser1481Cys) n.310A>T c.4537A>T (p.Ser1513Cys) c.4501A>T (p.Ser1501Cys) c.624A>T n.355+906T>A n.230+906T>A | |
| 1 | g.10365476G>A | CA116996 | KIF1B | c.4643G>A (p.Ser1548Asn) c.4505G>A (p.Ser1502Asn) c.4580G>A (p.Ser1527Asn) c.4442G>A (p.Ser1481Asn) n.311G>A c.4538G>A (p.Ser1513Asn) c.4502G>A (p.Ser1501Asn) c.625G>A n.355+905C>T n.230+905C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10365476G>C | CA338321953 | KIF1B | c.4643G>C (p.Ser1548Thr) c.4505G>C (p.Ser1502Thr) c.4580G>C (p.Ser1527Thr) c.4442G>C (p.Ser1481Thr) n.311G>C c.4538G>C (p.Ser1513Thr) c.4502G>C (p.Ser1501Thr) c.625G>C n.355+905C>G n.230+905C>G | |
| 1 | g.10365476G= | CA1141580572 | KIF1B | c.4643G= (p.Ser1548=) c.4505G= (p.Ser1502=) c.4580G= (p.Ser1527=) c.4442G= (p.Ser1481=) n.311G= c.4538G= (p.Ser1513=) c.4502G= (p.Ser1501=) c.625G= n.355+905C= n.230+905C= | |
| 1 | g.10365476G>T | CA338321954 | KIF1B | c.4643G>T (p.Ser1548Ile) c.4505G>T (p.Ser1502Ile) c.4580G>T (p.Ser1527Ile) c.4442G>T (p.Ser1481Ile) n.311G>T c.4538G>T (p.Ser1513Ile) c.4502G>T (p.Ser1501Ile) c.625G>T n.355+905C>A n.230+905C>A | |
| 1 | g.10365477C>A | CA338321957 | KIF1B | c.4644C>A (p.Ser1548Arg) c.4506C>A (p.Ser1502Arg) c.4581C>A (p.Ser1527Arg) c.4443C>A (p.Ser1481Arg) n.312C>A c.4539C>A (p.Ser1513Arg) c.4503C>A (p.Ser1501Arg) c.626C>A n.355+904G>T n.230+904G>T | |
| 1 | g.10365477C= | CA1153161535 | KIF1B | c.4644C= (p.Ser1548=) c.4506C= (p.Ser1502=) c.4581C= (p.Ser1527=) c.4443C= (p.Ser1481=) n.312C= c.4539C= (p.Ser1513=) c.4503C= (p.Ser1501=) c.626C= n.355+904G= n.230+904G= | |
| 1 | g.10365477C>G | CA338321959 | KIF1B | c.4644C>G (p.Ser1548Arg) c.4506C>G (p.Ser1502Arg) c.4581C>G (p.Ser1527Arg) c.4443C>G (p.Ser1481Arg) n.312C>G c.4539C>G (p.Ser1513Arg) c.4503C>G (p.Ser1501Arg) c.626C>G n.355+904G>C n.230+904G>C | |
| 1 | g.10365477C>T | CA582129 | KIF1B | c.4644C>T (p.Ser1548=) c.4506C>T (p.Ser1502=) c.4581C>T (p.Ser1527=) c.4443C>T (p.Ser1481=) n.312C>T c.4539C>T (p.Ser1513=) c.4503C>T (p.Ser1501=) c.626C>T n.355+904G>A n.230+904G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.10365478G>A | CA338321966 | KIF1B | c.4645G>A (p.Asp1549Asn) c.4507G>A (p.Asp1503Asn) c.4582G>A (p.Asp1528Asn) c.4444G>A (p.Asp1482Asn) n.313G>A c.4540G>A (p.Asp1514Asn) c.4504G>A (p.Asp1502Asn) c.627G>A n.355+903C>T n.230+903C>T | ClinVar gnomAD v4 |
| 1 | g.10365478G>C | CA338321963 | KIF1B | c.4645G>C (p.Asp1549His) c.4507G>C (p.Asp1503His) c.4582G>C (p.Asp1528His) c.4444G>C (p.Asp1482His) n.313G>C c.4540G>C (p.Asp1514His) c.4504G>C (p.Asp1502His) c.627G>C n.355+903C>G n.230+903C>G | |
| 1 | g.10365478G= | CA1153161540 | KIF1B | c.4645G= (p.Asp1549=) c.4507G= (p.Asp1503=) c.4582G= (p.Asp1528=) c.4444G= (p.Asp1482=) n.313G= c.4540G= (p.Asp1514=) c.4504G= (p.Asp1502=) c.627G= n.355+903C= n.230+903C= | |
| 1 | g.10365478G>T | CA338321965 | KIF1B | c.4645G>T (p.Asp1549Tyr) c.4507G>T (p.Asp1503Tyr) c.4582G>T (p.Asp1528Tyr) c.4444G>T (p.Asp1482Tyr) n.313G>T c.4540G>T (p.Asp1514Tyr) c.4504G>T (p.Asp1502Tyr) c.627G>T n.355+903C>A n.230+903C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10365479A>C | CA338321971 | KIF1B | c.4646A>C (p.Asp1549Ala) c.4508A>C (p.Asp1503Ala) c.4583A>C (p.Asp1528Ala) c.4445A>C (p.Asp1482Ala) n.314A>C c.4541A>C (p.Asp1514Ala) c.4505A>C (p.Asp1502Ala) c.628A>C n.355+902T>G n.230+902T>G | |
| 1 | g.10365479A>G | CA338321974 | KIF1B | c.4646A>G (p.Asp1549Gly) c.4508A>G (p.Asp1503Gly) c.4583A>G (p.Asp1528Gly) c.4445A>G (p.Asp1482Gly) n.314A>G c.4541A>G (p.Asp1514Gly) c.4505A>G (p.Asp1502Gly) c.628A>G n.355+902T>C n.230+902T>C | |
| 1 | g.10365479A>T | CA338321977 | KIF1B | c.4646A>T (p.Asp1549Val) c.4508A>T (p.Asp1503Val) c.4583A>T (p.Asp1528Val) c.4445A>T (p.Asp1482Val) n.314A>T c.4541A>T (p.Asp1514Val) c.4505A>T (p.Asp1502Val) c.628A>T n.355+902T>A n.230+902T>A | |
| 1 | g.10365480C>A | CA338321979 | KIF1B | c.4647C>A (p.Asp1549Glu) c.4509C>A (p.Asp1503Glu) c.4584C>A (p.Asp1528Glu) c.4446C>A (p.Asp1482Glu) n.315C>A c.4542C>A (p.Asp1514Glu) c.4506C>A (p.Asp1502Glu) c.629C>A n.355+901G>T n.230+901G>T | |
| 1 | g.10365480C>G | CA338321982 | KIF1B | c.4647C>G (p.Asp1549Glu) c.4509C>G (p.Asp1503Glu) c.4584C>G (p.Asp1528Glu) c.4446C>G (p.Asp1482Glu) n.315C>G c.4542C>G (p.Asp1514Glu) c.4506C>G (p.Asp1502Glu) c.629C>G n.355+901G>C n.230+901G>C | |
| 1 | g.10365480C>T | CA415886313 | KIF1B | c.4647C>T (p.Asp1549=) c.4509C>T (p.Asp1503=) c.4584C>T (p.Asp1528=) c.4446C>T (p.Asp1482=) n.315C>T c.4542C>T (p.Asp1514=) c.4506C>T (p.Asp1502=) c.629C>T n.355+901G>A n.230+901G>A | ClinVar COSMIC |
| 1 | g.10365481T>A | CA338321987 | KIF1B | c.4648T>A (p.Ser1550Thr) c.4510T>A (p.Ser1504Thr) c.4585T>A (p.Ser1529Thr) c.4447T>A (p.Ser1483Thr) n.316T>A c.4543T>A (p.Ser1515Thr) c.4507T>A (p.Ser1503Thr) c.630T>A n.355+900A>T n.230+900A>T | |
| 1 | g.10365481T>C | CA338321985 | KIF1B | c.4648T>C (p.Ser1550Pro) c.4510T>C (p.Ser1504Pro) c.4585T>C (p.Ser1529Pro) c.4447T>C (p.Ser1483Pro) n.316T>C c.4543T>C (p.Ser1515Pro) c.4507T>C (p.Ser1503Pro) c.630T>C n.355+900A>G n.230+900A>G | |
| 1 | g.10365481T>G | CA338321986 | KIF1B | c.4648T>G (p.Ser1550Ala) c.4510T>G (p.Ser1504Ala) c.4585T>G (p.Ser1529Ala) c.4447T>G (p.Ser1483Ala) n.316T>G c.4543T>G (p.Ser1515Ala) c.4507T>G (p.Ser1503Ala) c.630T>G n.355+900A>C n.230+900A>C | |
| 1 | g.10365482C>A | CA338321988 | KIF1B | c.4649C>A (p.Ser1550Ter) c.4511C>A (p.Ser1504Ter) c.4586C>A (p.Ser1529Ter) c.4448C>A (p.Ser1483Ter) n.317C>A c.4544C>A (p.Ser1515Ter) c.4508C>A (p.Ser1503Ter) c.631C>A n.355+899G>T n.230+899G>T | |
| 1 | g.10365482C= | CA1153161546 | KIF1B | c.4649C= (p.Ser1550=) c.4511C= (p.Ser1504=) c.4586C= (p.Ser1529=) c.4448C= (p.Ser1483=) n.317C= c.4544C= (p.Ser1515=) c.4508C= (p.Ser1503=) c.631C= n.355+899G= n.230+899G= | |
| 1 | g.10365482C>G | CA338321989 | KIF1B | c.4649C>G (p.Ser1550Trp) c.4511C>G (p.Ser1504Trp) c.4586C>G (p.Ser1529Trp) c.4448C>G (p.Ser1483Trp) n.317C>G c.4544C>G (p.Ser1515Trp) c.4508C>G (p.Ser1503Trp) c.631C>G n.355+899G>C n.230+899G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10365482C>T | CA582130 | KIF1B | c.4649C>T (p.Ser1550Leu) c.4511C>T (p.Ser1504Leu) c.4586C>T (p.Ser1529Leu) c.4448C>T (p.Ser1483Leu) n.317C>T c.4544C>T (p.Ser1515Leu) c.4508C>T (p.Ser1503Leu) c.631C>T n.355+899G>A n.230+899G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.10365483G>A | CA582131 | KIF1B | c.4650G>A (p.Ser1550=) c.4512G>A (p.Ser1504=) c.4587G>A (p.Ser1529=) c.4449G>A (p.Ser1483=) n.318G>A c.4545G>A (p.Ser1515=) c.4509G>A (p.Ser1503=) c.632G>A n.355+898C>T n.230+898C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10365483G>C | CA17850386 | KIF1B | c.4650G>C (p.Ser1550=) c.4512G>C (p.Ser1504=) c.4587G>C (p.Ser1529=) c.4449G>C (p.Ser1483=) n.318G>C c.4545G>C (p.Ser1515=) c.4509G>C (p.Ser1503=) c.632G>C n.355+898C>G n.230+898C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |