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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12590918A>T , CM000665.2:g.12590918A>T | GRCh38 |
| NC_000003.11:g.12632417A>T , CM000665.1:g.12632417A>T | GRCh37 |
| NC_000003.10:g.12607417A>T | NCBI36 |
| NG_007467.1:g.78262T>A , LRG_413:g.78262T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*915T>A | ENSP00000401088.1:n.*915T>A | |
| ENST00000432427.3:c.567T>A | ||
| ENST00000460610.2:n.44T>A | ||
| ENST00000465826.6:n.841T>A | ||
| ENST00000475353.2:n.1172T>A | ||
| ENST00000494557.2:n.1061T>A | ||
| ENST00000684903.1:c.*927T>A | ENSP00000508612.1:n.*927T>A | |
| ENST00000685348.1:c.*927T>A | ENSP00000510285.1:n.*927T>A | |
| ENST00000685437.1:c.1151T>A | ENSP00000508794.1:p.Leu384Gln | |
| ENST00000685653.1:c.1250T>A | ENSP00000509968.1:p.Leu417Gln | |
| ENST00000685738.1:c.*214T>A | ENSP00000510156.1:n.*214T>A | |
| ENST00000686409.1:n.2301T>A | ||
| ENST00000686455.1:n.1613T>A | ||
| ENST00000686762.1:c.1250T>A | ENSP00000509767.1:p.Leu417Gln | |
| ENST00000687257.1:n.1486T>A | ||
| ENST00000687326.1:c.*184T>A | ENSP00000509665.1:n.*184T>A | |
| ENST00000687505.1:n.1368T>A | ||
| ENST00000687923.1:c.1139T>A | ENSP00000510255.1:p.Leu380Gln | |
| ENST00000687940.1:n.1627T>A | ||
| ENST00000688269.1:n.1846T>A | ||
| ENST00000688326.1:c.683T>A | ||
| ENST00000688444.1:n.1576T>A | ||
| ENST00000688543.1:c.1151T>A | ENSP00000509612.1:p.Leu384Gln | |
| ENST00000688625.1:c.*828T>A | ENSP00000509522.1:n.*828T>A | |
| ENST00000688803.1:n.1481T>A | ||
| ENST00000688914.1:n.236T>A | ||
| ENST00000689097.1:c.*927T>A | ENSP00000509756.1:n.*927T>A | |
| ENST00000689389.1:c.1193+790T>A | ENSP00000510213.1:n.1193+790T>A | |
| ENST00000689418.1:c.*927T>A | ENSP00000509467.1:n.*927T>A | |
| ENST00000689481.1:c.*927T>A | ENSP00000510248.1:n.*927T>A | |
| ENST00000689540.1:n.1400T>A | ||
| ENST00000689876.1:c.1250T>A | ENSP00000508535.1:p.Leu417Gln | |
| ENST00000689914.1:c.*184T>A | ENSP00000509847.1:n.*184T>A | |
| ENST00000690397.1:c.1139T>A | ENSP00000508730.1:p.Leu380Gln | |
| ENST00000690460.1:c.1238T>A | ENSP00000509106.1:p.Leu413Gln | |
| ENST00000690585.1:c.142T>A | ||
| ENST00000690625.1:n.2286T>A | ||
| ENST00000691396.1:c.*1102T>A | ENSP00000510712.1:n.*1102T>A | |
| ENST00000691724.1:c.*207T>A | ENSP00000509255.1:n.*207T>A | |
| ENST00000691779.1:c.*828T>A | ENSP00000508592.1:n.*828T>A | |
| ENST00000691888.1:c.142T>A | ||
| ENST00000691899.1:c.1250T>A | ENSP00000508763.1:p.Leu417Gln | |
| ENST00000692069.1:n.1816T>A | ||
| ENST00000692093.1:c.1151T>A | ENSP00000509669.1:p.Leu384Gln | |
| ENST00000692311.1:n.2074T>A | ||
| ENST00000692558.1:n.1615T>A | ||
| ENST00000692773.1:c.*987T>A | ENSP00000509055.1:n.*987T>A | |
| ENST00000692830.1:c.*995T>A | ENSP00000509461.1:n.*995T>A | |
| ENST00000693069.1:c.*184T>A | ENSP00000510072.1:n.*184T>A | |
| ENST00000693312.1:c.1025T>A | ENSP00000508686.1:p.Leu342Gln | |
| ENST00000693664.1:c.1250T>A | ENSP00000509614.1:p.Leu417Gln | |
| ENST00000693705.1:c.*927T>A | ENSP00000510697.1:n.*927T>A | |
| ENST00000251849.9:c.1250T>A MANE Select | ENSP00000251849.4:p.Leu417Gln | |
| ENST00000442415.7:c.1310T>A | ENSP00000401888.2:p.Leu437Gln | |
| ENST00000251849.8:c.1250T>A | ENSP00000251849.4:p.Leu417Gln | |
| ENST00000423275.5:c.*927T>A | ENSP00000401088.1:n.*927T>A | |
| ENST00000432427.2:c.887T>A | ENSP00000398591.2:p.Leu296Gln | |
| ENST00000442415.6:c.1310T>A | ENSP00000401888.2:p.Leu437Gln | |
| ENST00000460610.1:n.207T>A | ||
| ENST00000465826.5:n.607T>A | ||
| ENST00000475353.1:n.418T>A | ||
| ENST00000494557.1:n.266T>A | ||
| NM_002880.3:c.1250T>A , LRG_413t1:c.1250T>A | NP_002871.1:p.Leu417Gln | |
| XM_005265355.1:c.1250T>A | XP_005265412.1:p.Leu417Gln | |
| XM_005265357.1:c.1151T>A | XP_005265414.1:p.Leu384Gln | |
| XM_005265358.3:c.1007T>A | XP_005265415.1:p.Leu336Gln | |
| XM_005265359.3:c.908T>A | XP_005265416.1:p.Leu303Gln | |
| XM_005265360.1:c.1250T>A | XP_005265417.1:p.Leu417Gln | |
| XM_011533974.1:c.1250T>A | XP_011532276.1:p.Leu417Gln | |
| XM_011533975.1:c.1007T>A | XP_011532277.1:p.Leu336Gln | |
| NM_001354689.1:c.1310T>A | NP_001341618.1:p.Leu437Gln | |
| NM_001354690.1:c.1250T>A | NP_001341619.1:p.Leu417Gln | |
| NM_001354691.1:c.1007T>A | NP_001341620.1:p.Leu336Gln | |
| NM_001354692.1:c.1007T>A | NP_001341621.1:p.Leu336Gln | |
| NM_001354693.1:c.1151T>A | NP_001341622.1:p.Leu384Gln | |
| NM_001354694.1:c.1067T>A | NP_001341623.1:p.Leu356Gln | |
| NM_001354695.1:c.908T>A | NP_001341624.1:p.Leu303Gln | |
| NR_148940.1:n.1778T>A | ||
| NR_148941.1:n.1724T>A | ||
| NR_148942.1:n.1663T>A | ||
| XM_011533974.3:c.1250T>A | XP_011532276.1:p.Leu417Gln | |
| XM_017006966.1:c.1151T>A | XP_016862455.1:p.Leu384Gln | |
| NM_001354689.3:c.1310T>A | NP_001341618.1:p.Leu437Gln | |
| NM_001354690.2:c.1250T>A | NP_001341619.1:p.Leu417Gln | |
| NM_001354691.2:c.1007T>A | NP_001341620.1:p.Leu336Gln | |
| NM_001354692.2:c.1007T>A | NP_001341621.1:p.Leu336Gln | |
| NM_001354693.2:c.1151T>A | NP_001341622.1:p.Leu384Gln | |
| NM_001354694.2:c.1067T>A | NP_001341623.1:p.Leu356Gln | |
| NM_001354695.2:c.908T>A | NP_001341624.1:p.Leu303Gln | |
| NR_148940.2:n.1694T>A | ||
| NR_148941.2:n.1640T>A | ||
| NR_148942.2:n.1579T>A | ||
| NM_001354690.3:c.1250T>A | NP_001341619.1:p.Leu417Gln | |
| NM_001354691.3:c.1007T>A | NP_001341620.1:p.Leu336Gln | |
| NM_001354692.3:c.1007T>A | NP_001341621.1:p.Leu336Gln | |
| NM_001354693.3:c.1151T>A | NP_001341622.1:p.Leu384Gln | |
| NM_001354694.3:c.1067T>A | NP_001341623.1:p.Leu356Gln | |
| NM_001354695.3:c.908T>A | NP_001341624.1:p.Leu303Gln | |
| NM_002880.4:c.1250T>A MANE Select | NP_002871.1:p.Leu417Gln | |
| NR_148940.3:n.1694T>A | ||
| NR_148941.3:n.1640T>A | ||
| NR_148942.3:n.1579T>A |