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_000003.12:g.12584436T= , CM000665.2:g.12584436T= | GRCh38 |
| NC_000003.11:g.12625935T= , CM000665.1:g.12625935T= | GRCh37 |
| NC_000003.10:g.12600935T= | NCBI36 |
| NG_007467.1:g.84744A= , LRG_413:g.84744A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1690A= (RAF1) | ENSP00000401088.1:n.*1690A= | |
| ENST00000432427.3:c.1342A= (RAF1) | ||
| ENST00000460610.2:n.6337A= (RAF1) | ||
| ENST00000471449.2:n.835A= (RAF1) | ||
| ENST00000475353.2:n.4305A= (RAF1) | ||
| ENST00000684903.1:c.*1702A= (RAF1) | ENSP00000508612.1:n.*1702A= | |
| ENST00000685348.1:c.*1736A= (RAF1) | ENSP00000510285.1:n.*1736A= | |
| ENST00000685437.1:c.*78A= (RAF1) | ENSP00000508794.1:n.*78A= | |
| ENST00000685653.1:c.*78A= (RAF1) | ENSP00000509968.1:n.*78A= | |
| ENST00000685697.1:n.2760A= (RAF1) | ||
| ENST00000685738.1:c.*989A= (RAF1) | ENSP00000510156.1:n.*989A= | |
| ENST00000686409.1:n.5434A= (RAF1) | ||
| ENST00000686455.1:n.4746A= (RAF1) | ||
| ENST00000686762.1:c.*584A= (RAF1) | ENSP00000509767.1:n.*584A= | |
| ENST00000687257.1:n.4479A= (RAF1) | ||
| ENST00000687326.1:c.*3317A= (RAF1) | ENSP00000509665.1:n.*3317A= | |
| ENST00000687505.1:n.2143A= (RAF1) | ||
| ENST00000687923.1:c.*78A= (RAF1) | ENSP00000510255.1:n.*78A= | |
| ENST00000688269.1:n.2621A= (RAF1) | ||
| ENST00000688444.1:n.4142A= (RAF1) | ||
| ENST00000688543.1:c.*78A= (RAF1) | ENSP00000509612.1:n.*78A= | |
| ENST00000688625.1:c.*3394A= (RAF1) | ENSP00000509522.1:n.*3394A= | |
| ENST00000688803.1:n.3453A= (RAF1) | ||
| ENST00000689097.1:c.*1702A= (RAF1) | ENSP00000509756.1:n.*1702A= | |
| ENST00000689389.1:c.*78A= (RAF1) | ENSP00000510213.1:n.*78A= | |
| ENST00000689418.1:c.*3920A= (RAF1) | ENSP00000509467.1:n.*3920A= | |
| ENST00000689540.1:n.4393A= (RAF1) | ||
| ENST00000689876.1:c.*574A= (RAF1) | ENSP00000508535.1:n.*574A= | |
| ENST00000689914.1:c.*959A= (RAF1) | ENSP00000509847.1:n.*959A= | |
| ENST00000690397.1:c.*78A= (RAF1) | ENSP00000508730.1:n.*78A= | |
| ENST00000690460.1:c.*78A= (RAF1) | ENSP00000509106.1:n.*78A= | |
| ENST00000690585.1:c.751A= (RAF1) | ||
| ENST00000690625.1:n.3061A= (RAF1) | ||
| ENST00000691396.1:c.*1897A= (RAF1) | ENSP00000510712.1:n.*1897A= | |
| ENST00000691643.1:n.3078A= (RAF1) | ||
| ENST00000691724.1:c.*982A= (RAF1) | ENSP00000509255.1:n.*982A= | |
| ENST00000691779.1:c.*1603A= (RAF1) | ENSP00000508592.1:n.*1603A= | |
| ENST00000691888.1:c.899A= (RAF1) | ||
| ENST00000691899.1:c.*78A= (RAF1) | ENSP00000508763.1:n.*78A= | |
| ENST00000692069.1:n.4949A= (RAF1) | ||
| ENST00000692093.1:c.*78A= (RAF1) | ENSP00000509669.1:n.*78A= | |
| ENST00000692311.1:n.2849A= (RAF1) | ||
| ENST00000692558.1:n.4608A= (RAF1) | ||
| ENST00000692773.1:c.*1762A= (RAF1) | ENSP00000509055.1:n.*1762A= | |
| ENST00000692830.1:c.*1770A= (RAF1) | ENSP00000509461.1:n.*1770A= | |
| ENST00000693312.1:c.*78A= (RAF1) | ENSP00000508686.1:n.*78A= | |
| ENST00000693664.1:c.*476A= (RAF1) | ENSP00000509614.1:n.*476A= | |
| ENST00000693705.1:c.*1404A= (RAF1) | ENSP00000510697.1:n.*1404A= | |
| ENST00000251849.9:c.*78A= (RAF1) MANE Select | ENSP00000251849.4:n.*78A= | |
| ENST00000442415.7:c.*78A= (RAF1) | ENSP00000401888.2:n.*78A= | |
| ENST00000676541.1:c.*2183T= (MKRN2) | ENSP00000503730.1:n.*2183T= | |
| ENST00000677142.1:c.*2183T= (MKRN2) | ENSP00000504455.1:n.*2183T= | |
| ENST00000677816.1:c.*738T= (MKRN2) | ENSP00000502893.1:n.*738T= | |
| ENST00000677941.1:n.2246T= (MKRN2) | ||
| ENST00000251849.8:c.*78A= (RAF1) | ENSP00000251849.4:n.*78A= | |
| ENST00000423275.5:c.*1702A= (RAF1) | ENSP00000401088.1:n.*1702A= | |
| ENST00000432427.2:c.1662A= (RAF1) | ENSP00000398591.2:n.1662A= | |
| ENST00000442415.6:c.*78A= (RAF1) | ENSP00000401888.2:n.*78A= | |
| ENST00000471449.1:n.714A= (RAF1) | ||
| NM_002880.3:c.*78A= , LRG_413t1:c.*78A= (RAF1) | NP_002871.1:n.*78A= | |
| XM_005265355.1:c.*78A= (RAF1) | XP_005265412.1:n.*78A= | |
| XM_005265357.1:c.*78A= (RAF1) | XP_005265414.1:n.*78A= | |
| XM_005265358.3:c.*78A= (RAF1) | XP_005265415.1:n.*78A= | |
| XM_005265359.3:c.*78A= (RAF1) | XP_005265416.1:n.*78A= | |
| XM_011533974.1:c.*78A= (RAF1) | XP_011532276.1:n.*78A= | |
| XM_011533975.1:c.*78A= (RAF1) | XP_011532277.1:n.*78A= | |
| NM_001354689.1:c.*78A= (RAF1) | NP_001341618.1:n.*78A= | |
| NM_001354690.1:c.*78A= (RAF1) | NP_001341619.1:n.*78A= | |
| NM_001354691.1:c.*78A= (RAF1) | NP_001341620.1:n.*78A= | |
| NM_001354692.1:c.*78A= (RAF1) | NP_001341621.1:n.*78A= | |
| NM_001354693.1:c.*78A= (RAF1) | NP_001341622.1:n.*78A= | |
| NM_001354694.1:c.*78A= (RAF1) | NP_001341623.1:n.*78A= | |
| NM_001354695.1:c.*78A= (RAF1) | NP_001341624.1:n.*78A= | |
| NR_148940.1:n.2553A= (RAF1) | ||
| NR_148941.1:n.2499A= (RAF1) | ||
| NR_148942.1:n.2438A= (RAF1) | ||
| XM_011533974.3:c.*78A= (RAF1) | XP_011532276.1:n.*78A= | |
| XM_017006966.1:c.*78A= (RAF1) | XP_016862455.1:n.*78A= | |
| NM_001354689.3:c.*78A= (RAF1) | NP_001341618.1:n.*78A= | |
| NM_001354690.2:c.*78A= (RAF1) | NP_001341619.1:n.*78A= | |
| NM_001354691.2:c.*78A= (RAF1) | NP_001341620.1:n.*78A= | |
| NM_001354692.2:c.*78A= (RAF1) | NP_001341621.1:n.*78A= | |
| NM_001354693.2:c.*78A= (RAF1) | NP_001341622.1:n.*78A= | |
| NM_001354694.2:c.*78A= (RAF1) | NP_001341623.1:n.*78A= | |
| NM_001354695.2:c.*78A= (RAF1) | NP_001341624.1:n.*78A= | |
| NR_148940.2:n.2469A= (RAF1) | ||
| NR_148941.2:n.2415A= (RAF1) | ||
| NR_148942.2:n.2354A= (RAF1) | ||
| NM_001354690.3:c.*78A= (RAF1) | NP_001341619.1:n.*78A= | |
| NM_001354691.3:c.*78A= (RAF1) | NP_001341620.1:n.*78A= | |
| NM_001354692.3:c.*78A= (RAF1) | NP_001341621.1:n.*78A= | |
| NM_001354693.3:c.*78A= (RAF1) | NP_001341622.1:n.*78A= | |
| NM_001354694.3:c.*78A= (RAF1) | NP_001341623.1:n.*78A= | |
| NM_001354695.3:c.*78A= (RAF1) | NP_001341624.1:n.*78A= | |
| NM_002880.4:c.*78A= (RAF1) MANE Select | NP_002871.1:n.*78A= | |
| NR_148940.3:n.2469A= (RAF1) | ||
| NR_148941.3:n.2415A= (RAF1) | ||
| NR_148942.3:n.2354A= (RAF1) |