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.12590826T>G , CM000665.2:g.12590826T>G | GRCh38 |
| NC_000003.11:g.12632325T>G , CM000665.1:g.12632325T>G | GRCh37 |
| NC_000003.10:g.12607325T>G | NCBI36 |
| NG_007467.1:g.78354A>C , LRG_413:g.78354A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1007A>C | ENSP00000401088.1:n.*1007A>C | |
| ENST00000432427.3:c.659A>C | ||
| ENST00000460610.2:n.136A>C | ||
| ENST00000465826.6:n.933A>C | ||
| ENST00000475353.2:n.1264A>C | ||
| ENST00000494557.2:n.1153A>C | ||
| ENST00000684903.1:c.*1019A>C | ENSP00000508612.1:n.*1019A>C | |
| ENST00000685348.1:c.*1019A>C | ENSP00000510285.1:n.*1019A>C | |
| ENST00000685437.1:c.1243A>C | ENSP00000508794.1:p.Ile415Leu | |
| ENST00000685653.1:c.1342A>C | ENSP00000509968.1:p.Ile448Leu | |
| ENST00000685738.1:c.*306A>C | ENSP00000510156.1:n.*306A>C | |
| ENST00000686409.1:n.2393A>C | ||
| ENST00000686455.1:n.1705A>C | ||
| ENST00000686762.1:c.1342A>C | ENSP00000509767.1:p.Ile448Leu | |
| ENST00000687257.1:n.1578A>C | ||
| ENST00000687326.1:c.*276A>C | ENSP00000509665.1:n.*276A>C | |
| ENST00000687505.1:n.1460A>C | ||
| ENST00000687923.1:c.1231A>C | ENSP00000510255.1:p.Ile411Leu | |
| ENST00000687940.1:n.1719A>C | ||
| ENST00000688269.1:n.1938A>C | ||
| ENST00000688326.1:c.775A>C | ||
| ENST00000688444.1:n.1668A>C | ||
| ENST00000688543.1:c.1243A>C | ENSP00000509612.1:p.Ile415Leu | |
| ENST00000688625.1:c.*920A>C | ENSP00000509522.1:n.*920A>C | |
| ENST00000688803.1:n.1573A>C | ||
| ENST00000688914.1:n.328A>C | ||
| ENST00000689097.1:c.*1019A>C | ENSP00000509756.1:n.*1019A>C | |
| ENST00000689389.1:c.1193+882A>C | ENSP00000510213.1:n.1193+882A>C | |
| ENST00000689418.1:c.*1019A>C | ENSP00000509467.1:n.*1019A>C | |
| ENST00000689481.1:c.*1019A>C | ENSP00000510248.1:n.*1019A>C | |
| ENST00000689540.1:n.1492A>C | ||
| ENST00000689876.1:c.1342A>C | ENSP00000508535.1:p.Ile448Leu | |
| ENST00000689914.1:c.*276A>C | ENSP00000509847.1:n.*276A>C | |
| ENST00000690397.1:c.1231A>C | ENSP00000508730.1:p.Ile411Leu | |
| ENST00000690460.1:c.1330A>C | ENSP00000509106.1:p.Ile444Leu | |
| ENST00000690585.1:c.234A>C | ||
| ENST00000690625.1:n.2378A>C | ||
| ENST00000691396.1:c.*1194A>C | ENSP00000510712.1:n.*1194A>C | |
| ENST00000691724.1:c.*299A>C | ENSP00000509255.1:n.*299A>C | |
| ENST00000691779.1:c.*920A>C | ENSP00000508592.1:n.*920A>C | |
| ENST00000691888.1:c.234A>C | ||
| ENST00000691899.1:c.1342A>C | ENSP00000508763.1:p.Ile448Leu | |
| ENST00000692069.1:n.1908A>C | ||
| ENST00000692093.1:c.1243A>C | ENSP00000509669.1:p.Ile415Leu | |
| ENST00000692311.1:n.2166A>C | ||
| ENST00000692558.1:n.1707A>C | ||
| ENST00000692773.1:c.*1079A>C | ENSP00000509055.1:n.*1079A>C | |
| ENST00000692830.1:c.*1087A>C | ENSP00000509461.1:n.*1087A>C | |
| ENST00000693069.1:c.*276A>C | ENSP00000510072.1:n.*276A>C | |
| ENST00000693312.1:c.1117A>C | ENSP00000508686.1:p.Ile373Leu | |
| ENST00000693664.1:c.1342A>C | ENSP00000509614.1:p.Ile448Leu | |
| ENST00000693705.1:c.*1019A>C | ENSP00000510697.1:n.*1019A>C | |
| ENST00000251849.9:c.1342A>C MANE Select | ENSP00000251849.4:p.Ile448Leu | |
| ENST00000442415.7:c.1402A>C | ENSP00000401888.2:p.Ile468Leu | |
| ENST00000251849.8:c.1342A>C | ENSP00000251849.4:p.Ile448Leu | |
| ENST00000423275.5:c.*1019A>C | ENSP00000401088.1:n.*1019A>C | |
| ENST00000432427.2:c.979A>C | ENSP00000398591.2:p.Ile327Leu | |
| ENST00000442415.6:c.1402A>C | ENSP00000401888.2:p.Ile468Leu | |
| ENST00000460610.1:n.299A>C | ||
| ENST00000465826.5:n.699A>C | ||
| ENST00000475353.1:n.510A>C | ||
| ENST00000494557.1:n.358A>C | ||
| NM_002880.3:c.1342A>C , LRG_413t1:c.1342A>C | NP_002871.1:p.Ile448Leu | |
| XM_005265355.1:c.1342A>C | XP_005265412.1:p.Ile448Leu | |
| XM_005265357.1:c.1243A>C | XP_005265414.1:p.Ile415Leu | |
| XM_005265358.3:c.1099A>C | XP_005265415.1:p.Ile367Leu | |
| XM_005265359.3:c.1000A>C | XP_005265416.1:p.Ile334Leu | |
| XM_005265360.1:c.1342A>C | XP_005265417.1:p.Ile448Leu | |
| XM_011533974.1:c.1342A>C | XP_011532276.1:p.Ile448Leu | |
| XM_011533975.1:c.1099A>C | XP_011532277.1:p.Ile367Leu | |
| NM_001354689.1:c.1402A>C | NP_001341618.1:p.Ile468Leu | |
| NM_001354690.1:c.1342A>C | NP_001341619.1:p.Ile448Leu | |
| NM_001354691.1:c.1099A>C | NP_001341620.1:p.Ile367Leu | |
| NM_001354692.1:c.1099A>C | NP_001341621.1:p.Ile367Leu | |
| NM_001354693.1:c.1243A>C | NP_001341622.1:p.Ile415Leu | |
| NM_001354694.1:c.1159A>C | NP_001341623.1:p.Ile387Leu | |
| NM_001354695.1:c.1000A>C | NP_001341624.1:p.Ile334Leu | |
| NR_148940.1:n.1870A>C | ||
| NR_148941.1:n.1816A>C | ||
| NR_148942.1:n.1755A>C | ||
| XM_011533974.3:c.1342A>C | XP_011532276.1:p.Ile448Leu | |
| XM_017006966.1:c.1243A>C | XP_016862455.1:p.Ile415Leu | |
| NM_001354689.3:c.1402A>C | NP_001341618.1:p.Ile468Leu | |
| NM_001354690.2:c.1342A>C | NP_001341619.1:p.Ile448Leu | |
| NM_001354691.2:c.1099A>C | NP_001341620.1:p.Ile367Leu | |
| NM_001354692.2:c.1099A>C | NP_001341621.1:p.Ile367Leu | |
| NM_001354693.2:c.1243A>C | NP_001341622.1:p.Ile415Leu | |
| NM_001354694.2:c.1159A>C | NP_001341623.1:p.Ile387Leu | |
| NM_001354695.2:c.1000A>C | NP_001341624.1:p.Ile334Leu | |
| NR_148940.2:n.1786A>C | ||
| NR_148941.2:n.1732A>C | ||
| NR_148942.2:n.1671A>C | ||
| NM_001354690.3:c.1342A>C | NP_001341619.1:p.Ile448Leu | |
| NM_001354691.3:c.1099A>C | NP_001341620.1:p.Ile367Leu | |
| NM_001354692.3:c.1099A>C | NP_001341621.1:p.Ile367Leu | |
| NM_001354693.3:c.1243A>C | NP_001341622.1:p.Ile415Leu | |
| NM_001354694.3:c.1159A>C | NP_001341623.1:p.Ile387Leu | |
| NM_001354695.3:c.1000A>C | NP_001341624.1:p.Ile334Leu | |
| NM_002880.4:c.1342A>C MANE Select | NP_002871.1:p.Ile448Leu | |
| NR_148940.3:n.1786A>C | ||
| NR_148941.3:n.1732A>C | ||
| NR_148942.3:n.1671A>C |