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.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 |
| 1 | g.10365483G= | CA1153161555 | KIF1B | c.4650G= (p.Ser1550=) c.4512G= (p.Ser1504=) c.4587G= (p.Ser1529=) c.4449G= (p.Ser1483=) n.318G= c.4545G= (p.Ser1515=) c.4509G= (p.Ser1503=) c.632G= n.355+898C= n.230+898C= | |
| 1 | g.10365483G>T | CA415886316 | KIF1B | c.4650G>T (p.Ser1550=) c.4512G>T (p.Ser1504=) c.4587G>T (p.Ser1529=) c.4449G>T (p.Ser1483=) n.318G>T c.4545G>T (p.Ser1515=) c.4509G>T (p.Ser1503=) c.632G>T n.355+898C>A n.230+898C>A | |
| 1 | g.10365484T>A | CA338321990 | KIF1B | c.4651T>A (p.Leu1551Ile) c.4513T>A (p.Leu1505Ile) c.4588T>A (p.Leu1530Ile) c.4450T>A (p.Leu1484Ile) n.319T>A c.4546T>A (p.Leu1516Ile) c.4510T>A (p.Leu1504Ile) c.633T>A n.355+897A>T n.230+897A>T | |
| 1 | g.10365484T>C | CA415886318 | KIF1B | c.4651T>C (p.Leu1551=) c.4513T>C (p.Leu1505=) c.4588T>C (p.Leu1530=) c.4450T>C (p.Leu1484=) n.319T>C c.4546T>C (p.Leu1516=) c.4510T>C (p.Leu1504=) c.633T>C n.355+897A>G n.230+897A>G | |
| 1 | g.10365484T>G | CA338321991 | KIF1B | c.4651T>G (p.Leu1551Val) c.4513T>G (p.Leu1505Val) c.4588T>G (p.Leu1530Val) c.4450T>G (p.Leu1484Val) n.319T>G c.4546T>G (p.Leu1516Val) c.4510T>G (p.Leu1504Val) c.633T>G n.355+897A>C n.230+897A>C | |
| 1 | g.10365485T>A | CA338321992 | KIF1B | c.4652T>A (p.Leu1551Ter) c.4514T>A (p.Leu1505Ter) c.4589T>A (p.Leu1530Ter) c.4451T>A (p.Leu1484Ter) n.320T>A c.4547T>A (p.Leu1516Ter) c.4511T>A (p.Leu1504Ter) c.634T>A n.355+896A>T n.230+896A>T | |
| 1 | g.10365485T>C | CA338321993 | KIF1B | c.4652T>C (p.Leu1551Ser) c.4514T>C (p.Leu1505Ser) c.4589T>C (p.Leu1530Ser) c.4451T>C (p.Leu1484Ser) n.320T>C c.4547T>C (p.Leu1516Ser) c.4511T>C (p.Leu1504Ser) c.634T>C n.355+896A>G n.230+896A>G | gnomAD v4 |
| 1 | g.10365485T>G | CA338321994 | KIF1B | c.4652T>G (p.Leu1551Ter) c.4514T>G (p.Leu1505Ter) c.4589T>G (p.Leu1530Ter) c.4451T>G (p.Leu1484Ter) n.320T>G c.4547T>G (p.Leu1516Ter) c.4511T>G (p.Leu1504Ter) c.634T>G n.355+896A>C n.230+896A>C | |
| 1 | g.10365486A= | CA1153161560 | KIF1B | c.4653A= (p.Leu1551=) c.4515A= (p.Leu1505=) c.4590A= (p.Leu1530=) c.4452A= (p.Leu1484=) n.321A= c.4548A= (p.Leu1516=) c.4512A= (p.Leu1504=) c.635A= n.355+895T= n.230+895T= | |
| 1 | g.10365486A>C | CA338321995 | KIF1B | c.4653A>C (p.Leu1551Phe) c.4515A>C (p.Leu1505Phe) c.4590A>C (p.Leu1530Phe) c.4452A>C (p.Leu1484Phe) n.321A>C c.4548A>C (p.Leu1516Phe) c.4512A>C (p.Leu1504Phe) c.635A>C n.355+895T>G n.230+895T>G | |
| 1 | g.10365486A>G | CA415886319 | KIF1B | c.4653A>G (p.Leu1551=) c.4515A>G (p.Leu1505=) c.4590A>G (p.Leu1530=) c.4452A>G (p.Leu1484=) n.321A>G c.4548A>G (p.Leu1516=) c.4512A>G (p.Leu1504=) c.635A>G n.355+895T>C n.230+895T>C | dbSNP gnomAD v4 |
| 1 | g.10365486A>T | CA582132 | KIF1B | c.4653A>T (p.Leu1551Phe) c.4515A>T (p.Leu1505Phe) c.4590A>T (p.Leu1530Phe) c.4452A>T (p.Leu1484Phe) n.321A>T c.4548A>T (p.Leu1516Phe) c.4512A>T (p.Leu1504Phe) c.635A>T n.355+895T>A n.230+895T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10365487T>A | CA338321996 | KIF1B | c.4654T>A (p.Ser1552Thr) c.4516T>A (p.Ser1506Thr) c.4591T>A (p.Ser1531Thr) c.4453T>A (p.Ser1485Thr) n.322T>A c.4549T>A (p.Ser1517Thr) c.4513T>A (p.Ser1505Thr) c.636T>A n.355+894A>T n.230+894A>T | dbSNP |
| 1 | g.10365487T>C | CA338321998 | KIF1B | c.4654T>C (p.Ser1552Pro) c.4516T>C (p.Ser1506Pro) c.4591T>C (p.Ser1531Pro) c.4453T>C (p.Ser1485Pro) n.322T>C c.4549T>C (p.Ser1517Pro) c.4513T>C (p.Ser1505Pro) c.636T>C n.355+894A>G n.230+894A>G | dbSNP |
| 1 | g.10365487T>G | CA338321997 | KIF1B | c.4654T>G (p.Ser1552Ala) c.4516T>G (p.Ser1506Ala) c.4591T>G (p.Ser1531Ala) c.4453T>G (p.Ser1485Ala) n.322T>G c.4549T>G (p.Ser1517Ala) c.4513T>G (p.Ser1505Ala) c.636T>G n.355+894A>C n.230+894A>C | |
| 1 | g.10365487T= | CA1153161562 | KIF1B | c.4654T= (p.Ser1552=) c.4516T= (p.Ser1506=) c.4591T= (p.Ser1531=) c.4453T= (p.Ser1485=) n.322T= c.4549T= (p.Ser1517=) c.4513T= (p.Ser1505=) c.636T= n.355+894A= n.230+894A= | |
| 1 | g.10365488C>A | CA338321999 | KIF1B | c.4655C>A (p.Ser1552Tyr) c.4517C>A (p.Ser1506Tyr) c.4592C>A (p.Ser1531Tyr) c.4454C>A (p.Ser1485Tyr) n.323C>A c.4550C>A (p.Ser1517Tyr) c.4514C>A (p.Ser1505Tyr) c.637C>A n.355+893G>T n.230+893G>T | |
| 1 | g.10365488C>G | CA338322000 | KIF1B | c.4655C>G (p.Ser1552Cys) c.4517C>G (p.Ser1506Cys) c.4592C>G (p.Ser1531Cys) c.4454C>G (p.Ser1485Cys) n.323C>G c.4550C>G (p.Ser1517Cys) c.4514C>G (p.Ser1505Cys) c.637C>G n.355+893G>C n.230+893G>C | |
| 1 | g.10365488C>T | CA338322001 | KIF1B | c.4655C>T (p.Ser1552Phe) c.4517C>T (p.Ser1506Phe) c.4592C>T (p.Ser1531Phe) c.4454C>T (p.Ser1485Phe) n.323C>T c.4550C>T (p.Ser1517Phe) c.4514C>T (p.Ser1505Phe) c.637C>T n.355+893G>A n.230+893G>A |