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.32997219_32997224dup | CA2664926659 | GLB1 | c.1860_1865dup (p.Glu622_Trp623insLeuGlu) c.1467_1472dup (p.Glu491_Trp492insLeuGlu) c.1770_1775dup (p.Glu592_Trp593insLeuGlu) c.2004_2009dup (p.Glu670_Trp671insLeuGlu) c.1734+16837_1734+16842dup (n.1734+16837_1734+16842dup) | gnomAD v4 |
| 3 | g.32997221C>A | CA352000530 | GLB1 | c.1858G>T (p.Glu620Ter) c.1465G>T (p.Glu489Ter) c.1768G>T (p.Glu590Ter) c.2002G>T (p.Glu668Ter) c.1734+16835G>T (n.1734+16835G>T) | |
| 3 | g.32997221C>G | CA352000531 | GLB1 | c.1858G>C (p.Glu620Gln) c.1465G>C (p.Glu489Gln) c.1768G>C (p.Glu590Gln) c.2002G>C (p.Glu668Gln) c.1734+16835G>C (n.1734+16835G>C) | |
| 3 | g.32997221C>T | CA352000533 | GLB1 | c.1858G>A (p.Glu620Lys) c.1465G>A (p.Glu489Lys) c.1768G>A (p.Glu590Lys) c.2002G>A (p.Glu668Lys) c.1734+16835G>A (n.1734+16835G>A) | |
| 3 | g.32997222C>A | CA432960306 | GLB1 | c.1857G>T (p.Leu619=) c.1464G>T (p.Leu488=) c.1767G>T (p.Leu589=) c.2001G>T (p.Leu667=) c.1734+16834G>T (n.1734+16834G>T) | |
| 3 | g.32997222C>G | CA432960307 | GLB1 | c.1857G>C (p.Leu619=) c.1464G>C (p.Leu488=) c.1767G>C (p.Leu589=) c.2001G>C (p.Leu667=) c.1734+16834G>C (n.1734+16834G>C) | |
| 3 | g.32997222C>T | CA432960308 | GLB1 | c.1857G>A (p.Leu619=) c.1464G>A (p.Leu488=) c.1767G>A (p.Leu589=) c.2001G>A (p.Leu667=) c.1734+16834G>A (n.1734+16834G>A) | |
| 3 | g.32997223A>C | CA352000536 | GLB1 | c.1856T>G (p.Leu619Arg) c.1463T>G (p.Leu488Arg) c.1766T>G (p.Leu589Arg) c.2000T>G (p.Leu667Arg) c.1734+16833T>G (n.1734+16833T>G) | |
| 3 | g.32997223A>G | CA352000537 | GLB1 | c.1856T>C (p.Leu619Pro) c.1463T>C (p.Leu488Pro) c.1766T>C (p.Leu589Pro) c.2000T>C (p.Leu667Pro) c.1734+16833T>C (n.1734+16833T>C) | |
| 3 | g.32997223A>T | CA352000538 | GLB1 | c.1856T>A (p.Leu619Gln) c.1463T>A (p.Leu488Gln) c.1766T>A (p.Leu589Gln) c.2000T>A (p.Leu667Gln) c.1734+16833T>A (n.1734+16833T>A) | |
| 3 | g.32997224G>A | CA432960310 | GLB1 | c.1855C>T (p.Leu619=) c.1462C>T (p.Leu488=) c.1765C>T (p.Leu589=) c.1999C>T (p.Leu667=) c.1734+16832C>T (n.1734+16832C>T) | ClinVar |
| 3 | g.32997224G>C | CA352000540 | GLB1 | c.1855C>G (p.Leu619Val) c.1462C>G (p.Leu488Val) c.1765C>G (p.Leu589Val) c.1999C>G (p.Leu667Val) c.1734+16832C>G (n.1734+16832C>G) | |
| 3 | g.32997224G>T | CA352000542 | GLB1 | c.1855C>A (p.Leu619Met) c.1462C>A (p.Leu488Met) c.1765C>A (p.Leu589Met) c.1999C>A (p.Leu667Met) c.1734+16832C>A (n.1734+16832C>A) | ClinVar |
| 3 | g.32997225C>A | CA432960311 | GLB1 | c.1854G>T (p.Val618=) c.1461G>T (p.Val487=) c.1764G>T (p.Val588=) c.1998G>T (p.Val666=) c.1734+16831G>T (n.1734+16831G>T) | |
| 3 | g.32997225C>G | CA432960312 | GLB1 | c.1854G>C (p.Val618=) c.1461G>C (p.Val487=) c.1764G>C (p.Val588=) c.1998G>C (p.Val666=) c.1734+16831G>C (n.1734+16831G>C) | ClinVar |
| 3 | g.32997225C>T | CA432960314 | GLB1 | c.1854G>A (p.Val618=) c.1461G>A (p.Val487=) c.1764G>A (p.Val588=) c.1998G>A (p.Val666=) c.1734+16831G>A (n.1734+16831G>A) | ClinVar gnomAD v4 |
| 3 | g.32997226A>C | CA352000548 | GLB1 | c.1853T>G (p.Val618Gly) c.1460T>G (p.Val487Gly) c.1763T>G (p.Val588Gly) c.1997T>G (p.Val666Gly) c.1734+16830T>G (n.1734+16830T>G) | |
| 3 | g.32997226A>G | CA352000546 | GLB1 | c.1853T>C (p.Val618Ala) c.1460T>C (p.Val487Ala) c.1763T>C (p.Val588Ala) c.1997T>C (p.Val666Ala) c.1734+16830T>C (n.1734+16830T>C) | |
| 3 | g.32997226A>T | CA352000544 | GLB1 | c.1853T>A (p.Val618Glu) c.1460T>A (p.Val487Glu) c.1763T>A (p.Val588Glu) c.1997T>A (p.Val666Glu) c.1734+16830T>A (n.1734+16830T>A) | |
| 3 | g.32997227C>A | CA352000549 | GLB1 | c.1852G>T (p.Val618Leu) c.1459G>T (p.Val487Leu) c.1762G>T (p.Val588Leu) c.1996G>T (p.Val666Leu) c.1734+16829G>T (n.1734+16829G>T) | |
| 3 | g.32997227C= | CA1355976948 | GLB1 | c.1852G= (p.Val618=) c.1459G= (p.Val487=) c.1762G= (p.Val588=) c.1996G= (p.Val666=) c.1734+16829G= (n.1734+16829G=) | |
| 3 | g.32997227C>G | CA352000551 | GLB1 | c.1852G>C (p.Val618Leu) c.1459G>C (p.Val487Leu) c.1762G>C (p.Val588Leu) c.1996G>C (p.Val666Leu) c.1734+16829G>C (n.1734+16829G>C) | |
| 3 | g.32997227C>T | CA352000553 | GLB1 | c.1852G>A (p.Val618Met) c.1459G>A (p.Val487Met) c.1762G>A (p.Val588Met) c.1996G>A (p.Val666Met) c.1734+16829G>A (n.1734+16829G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.32997228G>A | CA432960320 | GLB1 | c.1851C>T (p.Thr617=) c.1458C>T (p.Thr486=) c.1761C>T (p.Thr587=) c.1995C>T (p.Thr665=) c.1734+16828C>T (n.1734+16828C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997228G>C | CA432960323 | GLB1 | c.1851C>G (p.Thr617=) c.1458C>G (p.Thr486=) c.1761C>G (p.Thr587=) c.1995C>G (p.Thr665=) c.1734+16828C>G (n.1734+16828C>G) | gnomAD v4 |
| 3 | g.32997228G= | CA1355976949 | GLB1 | c.1851C= (p.Thr617=) c.1458C= (p.Thr486=) c.1761C= (p.Thr587=) c.1995C= (p.Thr665=) c.1734+16828C= (n.1734+16828C=) | |
| 3 | g.32997228G>T | CA432960322 | GLB1 | c.1851C>A (p.Thr617=) c.1458C>A (p.Thr486=) c.1761C>A (p.Thr587=) c.1995C>A (p.Thr665=) c.1734+16828C>A (n.1734+16828C>A) | |
| 3 | g.32997229G>A | CA352000555 | GLB1 | c.1850C>T (p.Thr617Ile) c.1457C>T (p.Thr486Ile) c.1760C>T (p.Thr587Ile) c.1994C>T (p.Thr665Ile) c.1734+16827C>T (n.1734+16827C>T) | |
| 3 | g.32997229G>C | CA352000557 | GLB1 | c.1850C>G (p.Thr617Ser) c.1457C>G (p.Thr486Ser) c.1760C>G (p.Thr587Ser) c.1994C>G (p.Thr665Ser) c.1734+16827C>G (n.1734+16827C>G) | dbSNP |
| 3 | g.32997229G= | CA1355976950 | GLB1 | c.1850C= (p.Thr617=) c.1457C= (p.Thr486=) c.1760C= (p.Thr587=) c.1994C= (p.Thr665=) c.1734+16827C= (n.1734+16827C=) | |
| 3 | g.32997229G>T | CA352000559 | GLB1 | c.1850C>A (p.Thr617Asn) c.1457C>A (p.Thr486Asn) c.1760C>A (p.Thr587Asn) c.1994C>A (p.Thr665Asn) c.1734+16827C>A (n.1734+16827C>A) | |
| 3 | g.32997230T>A | CA352000561 | GLB1 | c.1849A>T (p.Thr617Ser) c.1456A>T (p.Thr486Ser) c.1759A>T (p.Thr587Ser) c.1993A>T (p.Thr665Ser) c.1734+16826A>T (n.1734+16826A>T) | |
| 3 | g.32997230T>C | CA352000562 | GLB1 | c.1849A>G (p.Thr617Ala) c.1456A>G (p.Thr486Ala) c.1759A>G (p.Thr587Ala) c.1993A>G (p.Thr665Ala) c.1734+16826A>G (n.1734+16826A>G) | gnomAD v4 |
| 3 | g.32997230T>G | CA352000564 | GLB1 | c.1849A>C (p.Thr617Pro) c.1456A>C (p.Thr486Pro) c.1759A>C (p.Thr587Pro) c.1993A>C (p.Thr665Pro) c.1734+16826A>C (n.1734+16826A>C) | |
| 3 | g.32997231G>A | CA432960325 | GLB1 | c.1848C>T (p.Ile616=) c.1455C>T (p.Ile485=) c.1758C>T (p.Ile586=) c.1992C>T (p.Ile664=) c.1734+16825C>T (n.1734+16825C>T) | dbSNP |
| 3 | g.32997231G>C | CA352000566 | GLB1 | c.1848C>G (p.Ile616Met) c.1455C>G (p.Ile485Met) c.1758C>G (p.Ile586Met) c.1992C>G (p.Ile664Met) c.1734+16825C>G (n.1734+16825C>G) | |
| 3 | g.32997231G= | CA1355976951 | GLB1 | c.1848C= (p.Ile616=) c.1455C= (p.Ile485=) c.1758C= (p.Ile586=) c.1992C= (p.Ile664=) c.1734+16825C= (n.1734+16825C=) | |
| 3 | g.32997231G>T | CA432960326 | GLB1 | c.1848C>A (p.Ile616=) c.1455C>A (p.Ile485=) c.1758C>A (p.Ile586=) c.1992C>A (p.Ile664=) c.1734+16825C>A (n.1734+16825C>A) | |
| 3 | g.32997232A>C | CA352000567 | GLB1 | c.1847T>G (p.Ile616Ser) c.1454T>G (p.Ile485Ser) c.1757T>G (p.Ile586Ser) c.1991T>G (p.Ile664Ser) c.1734+16824T>G (n.1734+16824T>G) | |
| 3 | g.32997232A>G | CA352000569 | GLB1 | c.1847T>C (p.Ile616Thr) c.1454T>C (p.Ile485Thr) c.1757T>C (p.Ile586Thr) c.1991T>C (p.Ile664Thr) c.1734+16824T>C (n.1734+16824T>C) | |
| 3 | g.32997232A>T | CA352000570 | GLB1 | c.1847T>A (p.Ile616Asn) c.1454T>A (p.Ile485Asn) c.1757T>A (p.Ile586Asn) c.1991T>A (p.Ile664Asn) c.1734+16824T>A (n.1734+16824T>A) | |
| 3 | g.32997233T>A | CA352000572 | GLB1 | c.1846A>T (p.Ile616Phe) c.1453A>T (p.Ile485Phe) c.1756A>T (p.Ile586Phe) c.1990A>T (p.Ile664Phe) c.1734+16823A>T (n.1734+16823A>T) | |
| 3 | g.32997233T>C | CA352000574 | GLB1 | c.1846A>G (p.Ile616Val) c.1453A>G (p.Ile485Val) c.1756A>G (p.Ile586Val) c.1990A>G (p.Ile664Val) c.1734+16823A>G (n.1734+16823A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.32997233T>G | CA352000571 | GLB1 | c.1846A>C (p.Ile616Leu) c.1453A>C (p.Ile485Leu) c.1756A>C (p.Ile586Leu) c.1990A>C (p.Ile664Leu) c.1734+16823A>C (n.1734+16823A>C) | |
| 3 | g.32997233T= | CA1355976952 | GLB1 | c.1846A= (p.Ile616=) c.1453A= (p.Ile485=) c.1756A= (p.Ile586=) c.1990A= (p.Ile664=) c.1734+16823A= (n.1734+16823A=) | |
| 3 | g.32997234G>A | CA432960329 | GLB1 | c.1845C>T (p.Thr615=) c.1452C>T (p.Thr484=) c.1755C>T (p.Thr585=) c.1989C>T (p.Thr663=) c.1734+16822C>T (n.1734+16822C>T) | |
| 3 | g.32997234G>C | CA432960331 | GLB1 | c.1845C>G (p.Thr615=) c.1452C>G (p.Thr484=) c.1755C>G (p.Thr585=) c.1989C>G (p.Thr663=) c.1734+16822C>G (n.1734+16822C>G) | |
| 3 | g.32997234G>T | CA432960333 | GLB1 | c.1845C>A (p.Thr615=) c.1452C>A (p.Thr484=) c.1755C>A (p.Thr585=) c.1989C>A (p.Thr663=) c.1734+16822C>A (n.1734+16822C>A) | |
| 3 | g.32997235G>A | CA352000576 | GLB1 | c.1844C>T (p.Thr615Ile) c.1451C>T (p.Thr484Ile) c.1754C>T (p.Thr585Ile) c.1988C>T (p.Thr663Ile) c.1734+16821C>T (n.1734+16821C>T) | gnomAD v4 COSMIC |
| 3 | g.32997235G>C | CA352000578 | GLB1 | c.1844C>G (p.Thr615Ser) c.1451C>G (p.Thr484Ser) c.1754C>G (p.Thr585Ser) c.1988C>G (p.Thr663Ser) c.1734+16821C>G (n.1734+16821C>G) | dbSNP |