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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5521671G= , CM000679.2:g.5521671G= | GRCh38 |
| NC_000017.10:g.5424991G= , CM000679.1:g.5424991G= | GRCh37 |
| NC_000017.9:g.5365715G= | NCBI36 |
| NG_011651.1:g.67842C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262467.11:c.3648C= | ENSP00000262467.5:p.Phe1216= | |
| ENST00000269280.9:c.3636C= | ENSP00000269280.4:p.Phe1212= | |
| ENST00000354411.8:c.3546C= | ENSP00000346390.3:p.Phe1182= | |
| ENST00000544378.7:c.3648C= | ENSP00000442029.2:p.Phe1216= | |
| ENST00000571451.7:c.3636C= | ENSP00000459661.3:p.Phe1212= | |
| ENST00000572143.2:c.3627C= | ENSP00000514476.1:p.Phe1209= | |
| ENST00000576905.6:c.3636C= | ENSP00000458303.2:p.Phe1212= | |
| ENST00000617618.5:c.3636C= | ENSP00000478516.1:p.Phe1212= | |
| ENST00000699586.1:c.*409C= | ENSP00000514458.1:n.*409C= | |
| ENST00000699612.1:c.225-3784C= | ||
| ENST00000699613.1:c.3636C= | ENSP00000514477.1:p.Phe1212= | |
| ENST00000699614.1:c.3636C= | ENSP00000514478.1:p.Phe1212= | |
| ENST00000699615.1:c.*1354C= | ENSP00000514479.1:n.*1354C= | |
| ENST00000699622.1:c.1072-3784C= | ||
| ENST00000699623.1:c.3636C= | ENSP00000514483.1:p.Phe1212= | |
| ENST00000699624.1:n.2876C= | ||
| ENST00000699625.1:c.3649C= | ENSP00000514484.1:n.3649C= | |
| ENST00000699629.1:c.*1017C= | ENSP00000514488.1:n.*1017C= | |
| ENST00000699630.1:c.*2921C= | ENSP00000514489.1:n.*2921C= | |
| ENST00000699631.1:n.4393C= | ||
| ENST00000699632.1:c.3741C= | ENSP00000514490.1:n.3741C= | |
| ENST00000699633.1:c.3648C= | ENSP00000514491.1:p.Phe1216= | |
| ENST00000699634.1:c.3636C= | ENSP00000514492.1:p.Phe1212= | |
| ENST00000699635.1:n.798C= | ||
| ENST00000699636.1:n.6351C= | ||
| ENST00000699642.1:c.*2821C= | ENSP00000514495.1:n.*2821C= | |
| ENST00000699643.1:c.*3284C= | ENSP00000514496.1:n.*3284C= | |
| ENST00000699644.1:c.*5192C= | ENSP00000514497.1:n.*5192C= | |
| ENST00000699645.1:c.*2921C= | ENSP00000514498.1:n.*2921C= | |
| ENST00000699646.1:n.351C= | ||
| ENST00000699665.1:c.*1205C= | ENSP00000514508.1:n.*1205C= | |
| ENST00000699705.1:c.3648C= | ENSP00000514530.1:p.Phe1216= | |
| ENST00000699706.1:c.1108C= | ||
| ENST00000699707.1:c.3546C= | ENSP00000514532.1:p.Phe1182= | |
| ENST00000699708.1:c.*1205C= | ENSP00000514533.1:n.*1205C= | |
| ENST00000699709.1:c.3636C= | ENSP00000514534.1:p.Phe1212= | |
| ENST00000699710.1:c.3636C= | ENSP00000514535.1:p.Phe1212= | |
| ENST00000699711.1:c.3521-3784C= | ENSP00000514536.1:n.3521-3784C= | |
| ENST00000699712.1:c.3430+8810C= | ENSP00000514537.1:n.3430+8810C= | |
| ENST00000699713.1:c.*409C= | ENSP00000514538.1:n.*409C= | |
| ENST00000699771.1:c.935C= | ||
| ENST00000699772.1:c.674C= | ||
| ENST00000699773.1:c.340C= | ||
| ENST00000699774.1:c.503C= | ||
| ENST00000699804.1:c.503C= | ||
| ENST00000699805.1:c.503C= | ||
| ENST00000699806.1:c.388-6154C= | ||
| ENST00000699807.1:c.503C= | ||
| ENST00000262467.10:c.3648C= | ENSP00000262467.5:p.Phe1216= | |
| ENST00000572272.6:c.3636C= MANE Select | ENSP00000460475.1:p.Phe1212= | |
| ENST00000262467.9:c.3648C= | ENSP00000262467.5:p.Phe1216= | |
| ENST00000269280.8:c.3636C= | ENSP00000269280.4:p.Phe1212= | |
| ENST00000345221.7:c.3636C= | ENSP00000324366.3:p.Phe1212= | |
| ENST00000354411.7:c.3546C= | ENSP00000346390.3:p.Phe1182= | |
| ENST00000544378.6:c.3648C= | ENSP00000442029.2:p.Phe1216= | |
| ENST00000571451.6:c.*482C= | ENSP00000459661.2:n.*482C= | |
| ENST00000572272.5:c.3636C= | ENSP00000460475.1:p.Phe1212= | |
| ENST00000577119.5:c.3546C= | ENSP00000460216.1:p.Phe1182= | |
| ENST00000613500.4:c.3648C= | ENSP00000483359.1:p.Phe1216= | |
| ENST00000617618.4:c.3636C= | ENSP00000478516.1:p.Phe1212= | |
| ENST00000619223.4:c.3546C= | ENSP00000484692.1:p.Phe1182= | |
| NM_001033053.2:c.3648C= | NP_001028225.1:p.Phe1216= | |
| NM_014922.4:c.3636C= | NP_055737.1:p.Phe1212= | |
| NM_033004.3:c.3636C= | NP_127497.1:p.Phe1212= | |
| NM_033006.3:c.3546C= | NP_127499.1:p.Phe1182= | |
| NM_033007.3:c.3546C= | NP_127500.1:p.Phe1182= | |
| NM_033004.4:c.3636C= MANE Select | NP_127497.1:p.Phe1212= | |
| NM_001033053.3:c.3648C= | NP_001028225.1:p.Phe1216= | |
| NM_014922.5:c.3636C= | NP_055737.1:p.Phe1212= | |
| NM_033006.4:c.3546C= | NP_127499.1:p.Phe1182= | |
| NM_033007.4:c.3546C= | NP_127500.1:p.Phe1182= |