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_000010.11:g.74838651C= , CM000672.2:g.74838651C= | GRCh38 |
| NC_000010.10:g.76598409C= , CM000672.1:g.76598409C= | GRCh37 |
| NC_000010.9:g.76268415C= | NCBI36 |
| NG_032048.1:g.17239C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287239.10:c.-328-32C= MANE Select | ENSP00000287239.4:n.-328-32C= | |
| ENST00000372711.2:c.-328-32C= | ENSP00000361796.1:n.-328-32C= | |
| ENST00000372714.6:c.-258-3949C= | ENSP00000361799.1:n.-258-3949C= | |
| ENST00000372724.6:c.-328-32C= | ENSP00000361809.2:n.-328-32C= | |
| ENST00000372725.6:c.-258-3949C= | ENSP00000361810.1:n.-258-3949C= | |
| ENST00000647637.1:c.-328-32C= | ENSP00000497620.1:n.-328-32C= | |
| ENST00000647666.1:c.-328-32C= | ENSP00000497307.1:n.-328-32C= | |
| ENST00000647890.1:c.-328-32C= | ENSP00000497951.1:n.-328-32C= | |
| ENST00000648048.1:c.-359-32C= | ENSP00000497325.1:n.-359-32C= | |
| ENST00000648159.1:c.-359-32C= | ENSP00000497197.1:n.-359-32C= | |
| ENST00000648370.1:c.-328-32C= | ENSP00000497804.1:n.-328-32C= | |
| ENST00000648483.1:c.-328-32C= | ENSP00000498153.1:n.-328-32C= | |
| ENST00000648539.1:c.-258-3949C= | ENSP00000497859.1:n.-258-3949C= | |
| ENST00000648725.1:c.-328-32C= | ENSP00000497841.1:n.-328-32C= | |
| ENST00000648828.1:c.-328-32C= | ENSP00000497504.1:n.-328-32C= | |
| ENST00000648892.1:c.-328-32C= | ENSP00000497048.1:n.-328-32C= | |
| ENST00000648899.1:c.-328-32C= | ENSP00000497198.1:n.-328-32C= | |
| ENST00000649006.1:c.-258-3949C= | ENSP00000498139.1:n.-258-3949C= | |
| ENST00000649119.1:c.-328-32C= | ENSP00000498103.1:n.-328-32C= | |
| ENST00000649375.1:c.-258-3949C= | ENSP00000498141.1:n.-258-3949C= | |
| ENST00000649442.1:c.-328-32C= | ENSP00000498102.1:n.-328-32C= | |
| ENST00000649463.1:c.-328-32C= | ENSP00000497166.1:n.-328-32C= | |
| ENST00000649657.1:c.-328-32C= | ENSP00000497491.1:n.-328-32C= | |
| ENST00000650232.1:c.-258-3949C= | ENSP00000497570.1:n.-258-3949C= | |
| ENST00000650330.1:n.159-32C= | ||
| ENST00000650380.1:n.152-32C= | ||
| ENST00000650434.1:c.-258-3949C= | ENSP00000496881.1:n.-258-3949C= | |
| ENST00000287239.8:c.-328-32C= | ENSP00000287239.4:n.-328-32C= | |
| ENST00000372714.5:c.-258-3949C= | ENSP00000361799.1:n.-258-3949C= | |
| ENST00000372724.5:c.-328-32C= | ENSP00000361809.1:n.-328-32C= | |
| ENST00000372725.5:c.-258-3949C= | ENSP00000361810.1:n.-258-3949C= | |
| ENST00000604130.1:n.135-32C= | ||
| NM_001256468.1:c.-328-32C= | NP_001243397.1:n.-328-32C= | |
| NM_001256469.1:c.-328-32C= | NP_001243398.1:n.-328-32C= | |
| NM_012330.3:c.-328-32C= | NP_036462.2:n.-328-32C= | |
| XM_005269664.2:c.-328-32C= | XP_005269721.1:n.-328-32C= | |
| XM_017016000.2:c.-328-32C= | XP_016871489.1:n.-328-32C= | |
| XM_017016002.1:c.-359-32C= | XP_016871491.1:n.-359-32C= | |
| XM_017016003.1:c.-258-3949C= | XP_016871492.1:n.-258-3949C= | |
| XM_017016004.2:c.-328-32C= | XP_016871493.1:n.-328-32C= | |
| XM_017016005.2:c.-328-32C= | XP_016871494.1:n.-328-32C= | |
| XM_017016006.2:c.-328-32C= | XP_016871495.1:n.-328-32C= | |
| XM_017016008.2:c.-258-3949C= | XP_016871497.1:n.-258-3949C= | |
| XM_017016009.1:c.-328-32C= | XP_016871498.1:n.-328-32C= | |
| NM_012330.4:c.-328-32C= MANE Select | NP_036462.2:n.-328-32C= | |
| NM_001370132.1:c.-328-32C= | NP_001357061.1:n.-328-32C= | |
| NM_001370133.1:c.-328-32C= | NP_001357062.1:n.-328-32C= | |
| NM_001370134.1:c.-866-32C= | NP_001357063.1:n.-866-32C= | |
| NM_001370135.1:c.-866-32C= | NP_001357064.1:n.-866-32C= | |
| NM_001370136.1:c.-328-32C= | NP_001357065.1:n.-328-32C= | |
| NM_001370137.1:c.-359-32C= | NP_001357066.1:n.-359-32C= | |
| NM_001370138.1:c.-328-32C= | NP_001357067.1:n.-328-32C= | |
| NM_001370139.1:c.-359-32C= | NP_001357068.1:n.-359-32C= | |
| NM_001370140.1:c.-328-32C= | NP_001357069.1:n.-328-32C= | |
| NM_001370141.1:c.-258-3949C= | NP_001357070.1:n.-258-3949C= | |
| NM_001370142.1:c.-258-3949C= | NP_001357071.1:n.-258-3949C= | |
| NM_001370143.1:c.-258-3949C= | NP_001357072.1:n.-258-3949C= | |
| NM_001370144.1:c.-328-32C= | NP_001357073.1:n.-328-32C= | |
| NM_001256468.2:c.-328-32C= | NP_001243397.1:n.-328-32C= | |
| NM_001256469.2:c.-328-32C= | NP_001243398.1:n.-328-32C= |