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.
Linked Data
MyVariant Identifiers:
chr16:g.56531688G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56497776G>T , CM000678.2:g.56497776G>T | GRCh38 |
| NC_000016.9:g.56531688G>T , CM000678.1:g.56531688G>T | GRCh37 |
| NC_000016.8:g.55089189G>T | NCBI36 |
| NG_009312.1:g.27508C>A | |
| NG_009312.2:g.27249C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561877.2:c.1751C>A | ENSP00000454986.2:n.1751C>A | |
| ENST00000562813.2:n.2588C>A | ||
| ENST00000564459.6:n.491C>A | ||
| ENST00000565781.6:n.5295C>A | ||
| ENST00000565859.2:n.2838C>A | ||
| ENST00000566210.2:n.2193C>A | ||
| ENST00000566410.2:n.5278C>A | ||
| ENST00000566452.2:n.2224C>A | ||
| ENST00000566495.2:n.733C>A | ||
| ENST00000568104.6:c.1659+661C>A | ENSP00000456289.1:n.1659+661C>A | |
| ENST00000569192.6:n.869C>A | ||
| ENST00000618027.2:n.543C>A | ||
| ENST00000682000.1:n.1322C>A | ||
| ENST00000682001.1:n.2793C>A | ||
| ENST00000682005.1:n.1755C>A | ||
| ENST00000682038.1:c.*1153C>A | ENSP00000508404.1:n.*1153C>A | |
| ENST00000682047.1:c.1764C>A | ENSP00000507699.1:p.Val588= | |
| ENST00000682088.1:c.*4705C>A | ENSP00000508064.1:n.*4705C>A | |
| ENST00000682096.1:n.4214C>A | ||
| ENST00000682113.1:n.3981C>A | ||
| ENST00000682146.1:n.2921C>A | ||
| ENST00000682187.1:c.*1188C>A | ENSP00000507203.1:n.*1188C>A | |
| ENST00000682188.1:c.1764C>A | ENSP00000507655.1:p.Val588= | |
| ENST00000682201.1:n.1755C>A | ||
| ENST00000682205.1:c.1764C>A | ENSP00000508377.1:p.Val588= | |
| ENST00000682348.1:c.*813C>A | ENSP00000506965.1:n.*813C>A | |
| ENST00000682360.1:c.1167C>A | ENSP00000508007.1:p.Val389= | |
| ENST00000682370.1:n.3130C>A | ||
| ENST00000682420.1:n.2311C>A | ||
| ENST00000682429.1:c.*433C>A | ENSP00000506827.1:n.*433C>A | |
| ENST00000682449.1:c.*515C>A | ENSP00000507836.1:n.*515C>A | |
| ENST00000682470.1:c.1764C>A | ENSP00000507654.1:p.Val588= | |
| ENST00000682473.1:n.1729C>A | ||
| ENST00000682482.1:c.1638C>A | ENSP00000507903.1:p.Val546= | |
| ENST00000682492.1:n.1852C>A | ||
| ENST00000682493.1:c.*359C>A | ENSP00000506778.1:n.*359C>A | |
| ENST00000682543.1:c.*1188C>A | ENSP00000507592.1:n.*1188C>A | |
| ENST00000682597.1:n.3951C>A | ||
| ENST00000682623.1:n.365C>A | ||
| ENST00000682658.1:c.*796C>A | ENSP00000507773.1:n.*796C>A | |
| ENST00000682705.1:n.2833C>A | ||
| ENST00000682723.1:c.1167C>A | ENSP00000507115.1:p.Val389= | |
| ENST00000682735.1:c.*3432C>A | ENSP00000507007.1:n.*3432C>A | |
| ENST00000682737.1:c.1167C>A | ENSP00000506876.1:p.Val389= | |
| ENST00000682757.1:n.3457C>A | ||
| ENST00000682855.1:c.1764C>A | ENSP00000507027.1:p.Val588= | |
| ENST00000682875.1:c.1764C>A | ENSP00000507771.1:p.Val588= | |
| ENST00000682930.1:c.1689C>A | ENSP00000507981.1:p.Val563= | |
| ENST00000682948.1:n.2796C>A | ||
| ENST00000682960.1:n.4005C>A | ||
| ENST00000683008.1:n.5160C>A | ||
| ENST00000683020.1:c.*305C>A | ENSP00000507944.1:n.*305C>A | |
| ENST00000683099.1:n.3130C>A | ||
| ENST00000683170.1:n.3489C>A | ||
| ENST00000683212.1:c.*305C>A | ENSP00000507839.1:n.*305C>A | |
| ENST00000683248.1:n.3722C>A | ||
| ENST00000683343.1:n.2618C>A | ||
| ENST00000683347.1:n.1971C>A | ||
| ENST00000683384.1:c.1785C>A | ENSP00000508330.1:n.1785C>A | |
| ENST00000683396.1:n.4541C>A | ||
| ENST00000683410.1:n.2186C>A | ||
| ENST00000683443.1:n.1398C>A | ||
| ENST00000683485.1:n.4332C>A | ||
| ENST00000683504.1:n.7355C>A | ||
| ENST00000683533.1:c.*1188C>A | ENSP00000508296.1:n.*1188C>A | |
| ENST00000683609.1:n.3833C>A | ||
| ENST00000683644.1:c.*938C>A | ENSP00000507914.1:n.*938C>A | |
| ENST00000683660.1:n.1977C>A | ||
| ENST00000683669.1:n.1647C>A | ||
| ENST00000683690.1:c.*3216C>A | ENSP00000508152.1:n.*3216C>A | |
| ENST00000683719.1:n.1747C>A | ||
| ENST00000683757.1:n.1753C>A | ||
| ENST00000683858.1:c.1716C>A | ENSP00000507657.1:p.Val572= | |
| ENST00000683875.1:c.1536C>A | ENSP00000507602.1:p.Val512= | |
| ENST00000683904.1:n.4069C>A | ||
| ENST00000683910.1:n.4459C>A | ||
| ENST00000683959.1:c.*813C>A | ENSP00000508309.1:n.*813C>A | |
| ENST00000683976.1:c.*1313C>A | ENSP00000507183.1:n.*1313C>A | |
| ENST00000683978.1:n.1907C>A | ||
| ENST00000683992.1:c.*1404C>A | ENSP00000508144.1:n.*1404C>A | |
| ENST00000684020.1:n.2186C>A | ||
| ENST00000684044.1:n.2752C>A | ||
| ENST00000684057.1:n.2682C>A | ||
| ENST00000684076.1:n.3144C>A | ||
| ENST00000684128.1:n.3332C>A | ||
| ENST00000684194.1:n.3395C>A | ||
| ENST00000684205.1:n.3443C>A | ||
| ENST00000684246.1:c.*1404C>A | ENSP00000508273.1:n.*1404C>A | |
| ENST00000684388.1:c.684C>A | ENSP00000507647.1:p.Val228= | |
| ENST00000684402.1:n.3005C>A | ||
| ENST00000684446.1:n.3248C>A | ||
| ENST00000684531.1:n.3206C>A | ||
| ENST00000684635.1:c.1659C>A | ENSP00000507335.1:p.Val553= | |
| ENST00000684640.1:c.1726C>A | ENSP00000507292.1:n.1726C>A | |
| ENST00000684673.1:c.*359C>A | ENSP00000507746.1:n.*359C>A | |
| ENST00000684684.1:c.*1016C>A | ENSP00000507026.1:n.*1016C>A | |
| ENST00000245157.11:c.1764C>A MANE Select | ENSP00000245157.5:p.Val588= | |
| ENST00000245157.9:c.1764C>A | ENSP00000245157.5:p.Val588= | |
| ENST00000561877.1:c.588C>A | ||
| ENST00000562813.1:n.2588C>A | ||
| ENST00000564459.5:c.27C>A | ENSP00000463731.1:p.Val9= | |
| ENST00000565781.5:n.5295C>A | ||
| ENST00000566495.1:n.733C>A | ||
| ENST00000568104.5:c.1659+661C>A | ENSP00000456289.1:n.1659+661C>A | |
| ENST00000569192.5:n.438C>A | ||
| NM_031885.3:c.1764C>A | NP_114091.3:p.Val588= | |
| XM_005256080.1:c.1764C>A | XP_005256137.1:p.Val588= | |
| XR_933378.1:n.1825C>A | ||
| XM_005256080.2:c.1764C>A | XP_005256137.1:p.Val588= | |
| XR_001751958.1:n.2125C>A | ||
| XR_001751959.2:n.2122C>A | ||
| XR_001751960.1:n.1825C>A | ||
| XR_001751961.1:n.1825C>A | ||
| XR_933380.2:n.1953C>A | ||
| NM_031885.4:c.1764C>A | NP_114091.3:p.Val588= | |
| NM_001377456.1:c.1764C>A | NP_001364385.1:p.Val588= | |
| NM_031885.5:c.1764C>A MANE Select | NP_114091.4:p.Val588= | |
| NR_165293.1:n.2054C>A | ||
| NR_165294.1:n.2051C>A | ||
| NR_165295.1:n.1882C>A | ||
| NR_165296.1:n.1754C>A | ||
| NR_165297.1:n.1754C>A |