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 |
|---|---|---|---|---|---|
| 16 | g.3729614_3729686delinsCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCG | CA2202916470 | CREBBP | c.5361_5433delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1787=) c.5247_5319delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1749=) c.5316_5388delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1772=) c.4944_5016delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1648=) c.5100_5172delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1700=) c.5307_5379delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1769=) c.4608_4680delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1536=) c.5355_5427delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1785=) | |
| 16 | g.3729620_3729691del | CA658658387 | CREBBP | c.5361_5432del (p.Asn1787_Arg1810del) c.5247_5318del (p.Asn1749_Arg1772del) c.5316_5387del (p.Asn1772_Arg1795del) c.4944_5015del (p.Asn1648_Arg1671del) c.5100_5171del (p.Asn1700_Arg1723del) c.5307_5378del (p.Asn1769_Arg1792del) c.4608_4679del (p.Asn1536_Arg1559del) c.5355_5426del (p.Asn1785_Arg1808del) | ClinVar dbSNP |
| 16 | g.3729624C>A | CA394556457 | CREBBP | c.5423G>T (p.Cys1808Phe) c.5309G>T (p.Cys1770Phe) c.5378G>T (p.Cys1793Phe) c.5006G>T (p.Cys1669Phe) c.5162G>T (p.Cys1721Phe) c.5369G>T (p.Cys1790Phe) c.4670G>T (p.Cys1557Phe) c.5417G>T (p.Cys1806Phe) | dbSNP |
| 16 | g.3729624C>G | CA394556458 | CREBBP | c.5423G>C (p.Cys1808Ser) c.5309G>C (p.Cys1770Ser) c.5378G>C (p.Cys1793Ser) c.5006G>C (p.Cys1669Ser) c.5162G>C (p.Cys1721Ser) c.5369G>C (p.Cys1790Ser) c.4670G>C (p.Cys1557Ser) c.5417G>C (p.Cys1806Ser) | |
| 16 | g.3729624C>T | CA394556459 | CREBBP | c.5423G>A (p.Cys1808Tyr) c.5309G>A (p.Cys1770Tyr) c.5378G>A (p.Cys1793Tyr) c.5006G>A (p.Cys1669Tyr) c.5162G>A (p.Cys1721Tyr) c.5369G>A (p.Cys1790Tyr) c.4670G>A (p.Cys1557Tyr) c.5417G>A (p.Cys1806Tyr) | |
| 16 | g.3729625A>C | CA394556465 | CREBBP | c.5422T>G (p.Cys1808Gly) c.5308T>G (p.Cys1770Gly) c.5377T>G (p.Cys1793Gly) c.5005T>G (p.Cys1669Gly) c.5161T>G (p.Cys1721Gly) c.5368T>G (p.Cys1790Gly) c.4669T>G (p.Cys1557Gly) c.5416T>G (p.Cys1806Gly) | dbSNP |
| 16 | g.3729625A>G | CA394556463 | CREBBP | c.5422T>C (p.Cys1808Arg) c.5308T>C (p.Cys1770Arg) c.5377T>C (p.Cys1793Arg) c.5005T>C (p.Cys1669Arg) c.5161T>C (p.Cys1721Arg) c.5368T>C (p.Cys1790Arg) c.4669T>C (p.Cys1557Arg) c.5416T>C (p.Cys1806Arg) | dbSNP |
| 16 | g.3729625A>T | CA394556461 | CREBBP | c.5422T>A (p.Cys1808Ser) c.5308T>A (p.Cys1770Ser) c.5377T>A (p.Cys1793Ser) c.5005T>A (p.Cys1669Ser) c.5161T>A (p.Cys1721Ser) c.5368T>A (p.Cys1790Ser) c.4669T>A (p.Cys1557Ser) c.5416T>A (p.Cys1806Ser) | dbSNP |
| 16 | g.3729626G>A | CA493394379 | CREBBP | c.5421C>T (p.Gly1807=) c.5307C>T (p.Gly1769=) c.5376C>T (p.Gly1792=) c.5004C>T (p.Gly1668=) c.5160C>T (p.Gly1720=) c.5367C>T (p.Gly1789=) c.4668C>T (p.Gly1556=) c.5415C>T (p.Gly1805=) | dbSNP gnomAD v4 |
| 16 | g.3729626G>C | CA493394380 | CREBBP | c.5421C>G (p.Gly1807=) c.5307C>G (p.Gly1769=) c.5376C>G (p.Gly1792=) c.5004C>G (p.Gly1668=) c.5160C>G (p.Gly1720=) c.5367C>G (p.Gly1789=) c.4668C>G (p.Gly1556=) c.5415C>G (p.Gly1805=) | dbSNP |
| 16 | g.3729626G>T | CA493394381 | CREBBP | c.5421C>A (p.Gly1807=) c.5307C>A (p.Gly1769=) c.5376C>A (p.Gly1792=) c.5004C>A (p.Gly1668=) c.5160C>A (p.Gly1720=) c.5367C>A (p.Gly1789=) c.4668C>A (p.Gly1556=) c.5415C>A (p.Gly1805=) | dbSNP |
| 16 | g.3729627C>A | CA394556468 | CREBBP | c.5420G>T (p.Gly1807Val) c.5306G>T (p.Gly1769Val) c.5375G>T (p.Gly1792Val) c.5003G>T (p.Gly1668Val) c.5159G>T (p.Gly1720Val) c.5366G>T (p.Gly1789Val) c.4667G>T (p.Gly1556Val) c.5414G>T (p.Gly1805Val) | |
| 16 | g.3729627C>G | CA394556470 | CREBBP | c.5420G>C (p.Gly1807Ala) c.5306G>C (p.Gly1769Ala) c.5375G>C (p.Gly1792Ala) c.5003G>C (p.Gly1668Ala) c.5159G>C (p.Gly1720Ala) c.5366G>C (p.Gly1789Ala) c.4667G>C (p.Gly1556Ala) c.5414G>C (p.Gly1805Ala) | |
| 16 | g.3729627C>T | CA394556472 | CREBBP | c.5420G>A (p.Gly1807Asp) c.5306G>A (p.Gly1769Asp) c.5375G>A (p.Gly1792Asp) c.5003G>A (p.Gly1668Asp) c.5159G>A (p.Gly1720Asp) c.5366G>A (p.Gly1789Asp) c.4667G>A (p.Gly1556Asp) c.5414G>A (p.Gly1805Asp) | |
| 16 | g.3729628C>A | CA394556473 | CREBBP | c.5419G>T (p.Gly1807Cys) c.5305G>T (p.Gly1769Cys) c.5374G>T (p.Gly1792Cys) c.5002G>T (p.Gly1668Cys) c.5158G>T (p.Gly1720Cys) c.5365G>T (p.Gly1789Cys) c.4666G>T (p.Gly1556Cys) c.5413G>T (p.Gly1805Cys) | dbSNP |
| 16 | g.3729628C>G | CA394556475 | CREBBP | c.5419G>C (p.Gly1807Arg) c.5305G>C (p.Gly1769Arg) c.5374G>C (p.Gly1792Arg) c.5002G>C (p.Gly1668Arg) c.5158G>C (p.Gly1720Arg) c.5365G>C (p.Gly1789Arg) c.4666G>C (p.Gly1556Arg) c.5413G>C (p.Gly1805Arg) | dbSNP |
| 16 | g.3729628C>T | CA394556477 | CREBBP | c.5419G>A (p.Gly1807Ser) c.5305G>A (p.Gly1769Ser) c.5374G>A (p.Gly1792Ser) c.5002G>A (p.Gly1668Ser) c.5158G>A (p.Gly1720Ser) c.5365G>A (p.Gly1789Ser) c.4666G>A (p.Gly1556Ser) c.5413G>A (p.Gly1805Ser) | dbSNP |
| 16 | g.3729629C>A | CA394556479 | CREBBP | c.5418G>T (p.Lys1806Asn) c.5304G>T (p.Lys1768Asn) c.5373G>T (p.Lys1791Asn) c.5001G>T (p.Lys1667Asn) c.5157G>T (p.Lys1719Asn) c.5364G>T (p.Lys1788Asn) c.4665G>T (p.Lys1555Asn) c.5412G>T (p.Lys1804Asn) | |
| 16 | g.3729629C= | CA2202916473 | CREBBP | c.5418G= (p.Lys1806=) c.5304G= (p.Lys1768=) c.5373G= (p.Lys1791=) c.5001G= (p.Lys1667=) c.5157G= (p.Lys1719=) c.5364G= (p.Lys1788=) c.4665G= (p.Lys1555=) c.5412G= (p.Lys1804=) | |
| 16 | g.3729629C>G | CA394556481 | CREBBP | c.5418G>C (p.Lys1806Asn) c.5304G>C (p.Lys1768Asn) c.5373G>C (p.Lys1791Asn) c.5001G>C (p.Lys1667Asn) c.5157G>C (p.Lys1719Asn) c.5364G>C (p.Lys1788Asn) c.4665G>C (p.Lys1555Asn) c.5412G>C (p.Lys1804Asn) | COSMIC |
| 16 | g.3729629C>T | CA276972251 | CREBBP | c.5418G>A (p.Lys1806=) c.5304G>A (p.Lys1768=) c.5373G>A (p.Lys1791=) c.5001G>A (p.Lys1667=) c.5157G>A (p.Lys1719=) c.5364G>A (p.Lys1788=) c.4665G>A (p.Lys1555=) c.5412G>A (p.Lys1804=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729630T>A | CA394556484 | CREBBP | c.5417A>T (p.Lys1806Met) c.5303A>T (p.Lys1768Met) c.5372A>T (p.Lys1791Met) c.5000A>T (p.Lys1667Met) c.5156A>T (p.Lys1719Met) c.5363A>T (p.Lys1788Met) c.4664A>T (p.Lys1555Met) c.5411A>T (p.Lys1804Met) | dbSNP |
| 16 | g.3729630T>C | CA394556486 | CREBBP | c.5417A>G (p.Lys1806Arg) c.5303A>G (p.Lys1768Arg) c.5372A>G (p.Lys1791Arg) c.5000A>G (p.Lys1667Arg) c.5156A>G (p.Lys1719Arg) c.5363A>G (p.Lys1788Arg) c.4664A>G (p.Lys1555Arg) c.5411A>G (p.Lys1804Arg) | dbSNP gnomAD v4 |
| 16 | g.3729630T>G | CA394556488 | CREBBP | c.5417A>C (p.Lys1806Thr) c.5303A>C (p.Lys1768Thr) c.5372A>C (p.Lys1791Thr) c.5000A>C (p.Lys1667Thr) c.5156A>C (p.Lys1719Thr) c.5363A>C (p.Lys1788Thr) c.4664A>C (p.Lys1555Thr) c.5411A>C (p.Lys1804Thr) | |
| 16 | g.3729631T>A | CA394556494 | CREBBP | c.5416A>T (p.Lys1806Ter) c.5302A>T (p.Lys1768Ter) c.5371A>T (p.Lys1791Ter) c.4999A>T (p.Lys1667Ter) c.5155A>T (p.Lys1719Ter) c.5362A>T (p.Lys1788Ter) c.4663A>T (p.Lys1555Ter) c.5410A>T (p.Lys1804Ter) | |
| 16 | g.3729631T>C | CA394556492 | CREBBP | c.5416A>G (p.Lys1806Glu) c.5302A>G (p.Lys1768Glu) c.5371A>G (p.Lys1791Glu) c.4999A>G (p.Lys1667Glu) c.5155A>G (p.Lys1719Glu) c.5362A>G (p.Lys1788Glu) c.4663A>G (p.Lys1555Glu) c.5410A>G (p.Lys1804Glu) | |
| 16 | g.3729631T>G | CA394556490 | CREBBP | c.5416A>C (p.Lys1806Gln) c.5302A>C (p.Lys1768Gln) c.5371A>C (p.Lys1791Gln) c.4999A>C (p.Lys1667Gln) c.5155A>C (p.Lys1719Gln) c.5362A>C (p.Lys1788Gln) c.4663A>C (p.Lys1555Gln) c.5410A>C (p.Lys1804Gln) | |
| 16 | g.3729632G>A | CA493394384 | CREBBP | c.5415C>T (p.Thr1805=) c.5301C>T (p.Thr1767=) c.5370C>T (p.Thr1790=) c.4998C>T (p.Thr1666=) c.5154C>T (p.Thr1718=) c.5361C>T (p.Thr1787=) c.4662C>T (p.Thr1554=) c.5409C>T (p.Thr1803=) | ClinVar dbSNP |
| 16 | g.3729632G>C | CA493394383 | CREBBP | c.5415C>G (p.Thr1805=) c.5301C>G (p.Thr1767=) c.5370C>G (p.Thr1790=) c.4998C>G (p.Thr1666=) c.5154C>G (p.Thr1718=) c.5361C>G (p.Thr1787=) c.4662C>G (p.Thr1554=) c.5409C>G (p.Thr1803=) | dbSNP |
| 16 | g.3729632G>T | CA493394382 | CREBBP | c.5415C>A (p.Thr1805=) c.5301C>A (p.Thr1767=) c.5370C>A (p.Thr1790=) c.4998C>A (p.Thr1666=) c.5154C>A (p.Thr1718=) c.5361C>A (p.Thr1787=) c.4662C>A (p.Thr1554=) c.5409C>A (p.Thr1803=) | dbSNP gnomAD v4 |
| 16 | g.3729633G>A | CA394556497 | CREBBP | c.5414C>T (p.Thr1805Ile) c.5300C>T (p.Thr1767Ile) c.5369C>T (p.Thr1790Ile) c.4997C>T (p.Thr1666Ile) c.5153C>T (p.Thr1718Ile) c.5360C>T (p.Thr1787Ile) c.4661C>T (p.Thr1554Ile) c.5408C>T (p.Thr1803Ile) | dbSNP |
| 16 | g.3729633G>C | CA394556498 | CREBBP | c.5414C>G (p.Thr1805Ser) c.5300C>G (p.Thr1767Ser) c.5369C>G (p.Thr1790Ser) c.4997C>G (p.Thr1666Ser) c.5153C>G (p.Thr1718Ser) c.5360C>G (p.Thr1787Ser) c.4661C>G (p.Thr1554Ser) c.5408C>G (p.Thr1803Ser) | dbSNP gnomAD v4 |
| 16 | g.3729633G>T | CA394556500 | CREBBP | c.5414C>A (p.Thr1805Asn) c.5300C>A (p.Thr1767Asn) c.5369C>A (p.Thr1790Asn) c.4997C>A (p.Thr1666Asn) c.5153C>A (p.Thr1718Asn) c.5360C>A (p.Thr1787Asn) c.4661C>A (p.Thr1554Asn) c.5408C>A (p.Thr1803Asn) | |
| 16 | g.3729634T>A | CA394556504 | CREBBP | c.5413A>T (p.Thr1805Ser) c.5299A>T (p.Thr1767Ser) c.5368A>T (p.Thr1790Ser) c.4996A>T (p.Thr1666Ser) c.5152A>T (p.Thr1718Ser) c.5359A>T (p.Thr1787Ser) c.4660A>T (p.Thr1554Ser) c.5407A>T (p.Thr1803Ser) | dbSNP |
| 16 | g.3729634T>C | CA394556505 | CREBBP | c.5413A>G (p.Thr1805Ala) c.5299A>G (p.Thr1767Ala) c.5368A>G (p.Thr1790Ala) c.4996A>G (p.Thr1666Ala) c.5152A>G (p.Thr1718Ala) c.5359A>G (p.Thr1787Ala) c.4660A>G (p.Thr1554Ala) c.5407A>G (p.Thr1803Ala) | |
| 16 | g.3729634T>G | CA394556507 | CREBBP | c.5413A>C (p.Thr1805Pro) c.5299A>C (p.Thr1767Pro) c.5368A>C (p.Thr1790Pro) c.4996A>C (p.Thr1666Pro) c.5152A>C (p.Thr1718Pro) c.5359A>C (p.Thr1787Pro) c.4660A>C (p.Thr1554Pro) c.5407A>C (p.Thr1803Pro) | dbSNP |
| 16 | g.3729635G>A | CA493394385 | CREBBP | c.5412C>T (p.His1804=) c.5298C>T (p.His1766=) c.5367C>T (p.His1789=) c.4995C>T (p.His1665=) c.5151C>T (p.His1717=) c.5358C>T (p.His1786=) c.4659C>T (p.His1553=) c.5406C>T (p.His1802=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3729635G>C | CA394556509 | CREBBP | c.5412C>G (p.His1804Gln) c.5298C>G (p.His1766Gln) c.5367C>G (p.His1789Gln) c.4995C>G (p.His1665Gln) c.5151C>G (p.His1717Gln) c.5358C>G (p.His1786Gln) c.4659C>G (p.His1553Gln) c.5406C>G (p.His1802Gln) | |
| 16 | g.3729635G= | CA2202916474 | CREBBP | c.5412C= (p.His1804=) c.5298C= (p.His1766=) c.5367C= (p.His1789=) c.4995C= (p.His1665=) c.5151C= (p.His1717=) c.5358C= (p.His1786=) c.4659C= (p.His1553=) c.5406C= (p.His1802=) | |
| 16 | g.3729635G>T | CA277274 | CREBBP | c.5412C>A (p.His1804Gln) c.5298C>A (p.His1766Gln) c.5367C>A (p.His1789Gln) c.4995C>A (p.His1665Gln) c.5151C>A (p.His1717Gln) c.5358C>A (p.His1786Gln) c.4659C>A (p.His1553Gln) c.5406C>A (p.His1802Gln) | ClinVar dbSNP |
| 16 | g.3729636T>A | CA394556510 | CREBBP | c.5411A>T (p.His1804Leu) c.5297A>T (p.His1766Leu) c.5366A>T (p.His1789Leu) c.4994A>T (p.His1665Leu) c.5150A>T (p.His1717Leu) c.5357A>T (p.His1786Leu) c.4658A>T (p.His1553Leu) c.5405A>T (p.His1802Leu) | dbSNP |
| 16 | g.3729636T>C | CA394556511 | CREBBP | c.5411A>G (p.His1804Arg) c.5297A>G (p.His1766Arg) c.5366A>G (p.His1789Arg) c.4994A>G (p.His1665Arg) c.5150A>G (p.His1717Arg) c.5357A>G (p.His1786Arg) c.4658A>G (p.His1553Arg) c.5405A>G (p.His1802Arg) | dbSNP |
| 16 | g.3729636T>G | CA394556512 | CREBBP | c.5411A>C (p.His1804Pro) c.5297A>C (p.His1766Pro) c.5366A>C (p.His1789Pro) c.4994A>C (p.His1665Pro) c.5150A>C (p.His1717Pro) c.5357A>C (p.His1786Pro) c.4658A>C (p.His1553Pro) c.5405A>C (p.His1802Pro) | dbSNP |
| 16 | g.3729637G>A | CA394556518 | CREBBP | c.5410C>T (p.His1804Tyr) c.5296C>T (p.His1766Tyr) c.5365C>T (p.His1789Tyr) c.4993C>T (p.His1665Tyr) c.5149C>T (p.His1717Tyr) c.5356C>T (p.His1786Tyr) c.4657C>T (p.His1553Tyr) c.5404C>T (p.His1802Tyr) | dbSNP COSMIC |
| 16 | g.3729637G>C | CA394556516 | CREBBP | c.5410C>G (p.His1804Asp) c.5296C>G (p.His1766Asp) c.5365C>G (p.His1789Asp) c.4993C>G (p.His1665Asp) c.5149C>G (p.His1717Asp) c.5356C>G (p.His1786Asp) c.4657C>G (p.His1553Asp) c.5404C>G (p.His1802Asp) | dbSNP |
| 16 | g.3729637G>T | CA394556514 | CREBBP | c.5410C>A (p.His1804Asn) c.5296C>A (p.His1766Asn) c.5365C>A (p.His1789Asn) c.4993C>A (p.His1665Asn) c.5149C>A (p.His1717Asn) c.5356C>A (p.His1786Asn) c.4657C>A (p.His1553Asn) c.5404C>A (p.His1802Asn) | dbSNP |
| 16 | g.3729638C>A | CA394556520 | CREBBP | c.5409G>T (p.Gln1803His) c.5295G>T (p.Gln1765His) c.5364G>T (p.Gln1788His) c.4992G>T (p.Gln1664His) c.5148G>T (p.Gln1716His) c.5355G>T (p.Gln1785His) c.4656G>T (p.Gln1552His) c.5403G>T (p.Gln1801His) | |
| 16 | g.3729638C>G | CA394556522 | CREBBP | c.5409G>C (p.Gln1803His) c.5295G>C (p.Gln1765His) c.5364G>C (p.Gln1788His) c.4992G>C (p.Gln1664His) c.5148G>C (p.Gln1716His) c.5355G>C (p.Gln1785His) c.4656G>C (p.Gln1552His) c.5403G>C (p.Gln1801His) | |
| 16 | g.3729638C>T | CA493394386 | CREBBP | c.5409G>A (p.Gln1803=) c.5295G>A (p.Gln1765=) c.5364G>A (p.Gln1788=) c.4992G>A (p.Gln1664=) c.5148G>A (p.Gln1716=) c.5355G>A (p.Gln1785=) c.4656G>A (p.Gln1552=) c.5403G>A (p.Gln1801=) | |
| 16 | g.3729639T>A | CA394556524 | CREBBP | c.5408A>T (p.Gln1803Leu) c.5294A>T (p.Gln1765Leu) c.5363A>T (p.Gln1788Leu) c.4991A>T (p.Gln1664Leu) c.5147A>T (p.Gln1716Leu) c.5354A>T (p.Gln1785Leu) c.4655A>T (p.Gln1552Leu) c.5402A>T (p.Gln1801Leu) | dbSNP |