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_000014.9:g.23563788T= , CM000676.2:g.23563788T= | GRCh38 |
| NC_000014.8:g.24032997T= , CM000676.1:g.24032997T= | GRCh37 |
| NC_000014.7:g.23102837T= | NCBI36 |
| NG_011937.1:g.9283A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397120.8:c.1160A= (AP1G2) MANE Select | ENSP00000380309.3:p.Gln387= | |
| ENST00000308724.9:c.1160A= (AP1G2) | ENSP00000312442.5:p.Gln387= | |
| ENST00000397120.7:c.1160A= (AP1G2) | ENSP00000380309.3:p.Gln387= | |
| ENST00000460049.6:n.1333A= (AP1G2) | ||
| ENST00000465445.6:n.1219A= (AP1G2) | ||
| ENST00000535852.6:n.1100A= (AP1G2) | ||
| ENST00000554554.5:n.162A= (AP1G2) | ||
| ENST00000554977.1:n.477A= (AP1G2) | ||
| ENST00000554982.5:n.66A= (AP1G2) | ||
| ENST00000555118.1:n.4A= (AP1G2) | ||
| ENST00000555789.5:n.109A= (AP1G2) | ||
| ENST00000555974.1:n.115A= (AP1G2) | ||
| ENST00000556741.5:n.119A= (AP1G2) | ||
| ENST00000557162.1:c.309A= (AP1G2) | ||
| NM_001282474.1:c.17A= (AP1G2) | NP_001269403.1:p.Gln6= | |
| NM_001282475.1:c.944A= (AP1G2) | NP_001269404.1:p.Gln315= | |
| NM_003917.4:c.1160A= (AP1G2) | NP_003908.1:p.Gln387= | |
| NR_110555.1:n.778-939T= (AP1G2-AS1) | ||
| XM_005268167.2:c.1331A= (AP1G2) | XP_005268224.1:p.Gln444= | |
| XM_005268168.3:c.1331A= (AP1G2) | XP_005268225.1:p.Gln444= | |
| XM_005268169.2:c.1331A= (AP1G2) | XP_005268226.1:p.Gln444= | |
| XM_005268170.2:c.1331A= (AP1G2) | XP_005268227.1:p.Gln444= | |
| XM_005268172.2:c.1160A= (AP1G2) | XP_005268229.1:p.Gln387= | |
| XM_005268173.2:c.1160A= (AP1G2) | XP_005268230.1:p.Gln387= | |
| XM_005268174.2:c.944A= (AP1G2) | XP_005268231.1:p.Gln315= | |
| XM_005268175.2:c.944A= (AP1G2) | XP_005268232.1:p.Gln315= | |
| XM_005268177.2:c.773A= (AP1G2) | XP_005268234.1:p.Gln258= | |
| XM_005268178.2:c.773A= (AP1G2) | XP_005268235.1:p.Gln258= | |
| XM_005268179.2:c.773A= (AP1G2) | XP_005268236.1:p.Gln258= | |
| XM_005268180.3:c.725A= (AP1G2) | XP_005268237.1:p.Gln242= | |
| XM_005268181.2:c.1433A= (AP1G2) | XP_005268238.1:p.Gln478= | |
| XM_005268182.2:c.530A= (AP1G2) | XP_005268239.1:p.Gln177= | |
| XM_006720301.2:c.1331A= (AP1G2) | XP_006720364.1:p.Gln444= | |
| XM_011537282.1:c.1331A= (AP1G2) | XP_011535584.1:p.Gln444= | |
| XM_011537283.1:c.1331A= (AP1G2) | XP_011535585.1:p.Gln444= | |
| XM_011537284.1:c.1433A= (AP1G2) | XP_011535586.1:p.Gln478= | |
| XM_011537285.1:c.1433A= (AP1G2) | XP_011535587.1:p.Gln478= | |
| XM_011537286.1:c.17A= (AP1G2) | XP_011535588.1:p.Gln6= | |
| XR_943550.1:n.1332A= (AP1G2) | ||
| XR_943551.1:n.1472A= (AP1G2) | ||
| XR_943552.1:n.1472A= (AP1G2) | ||
| XR_943553.1:n.1332A= (AP1G2) | ||
| XR_943554.1:n.1583A= (AP1G2) | ||
| XR_943555.1:n.1394A= (AP1G2) | ||
| NM_001354673.1:c.773A= (AP1G2) | NP_001341602.1:p.Gln258= | |
| NM_001354674.1:c.17A= (AP1G2) | NP_001341603.1:p.Gln6= | |
| NM_001354675.1:c.17A= (AP1G2) | NP_001341604.1:p.Gln6= | |
| NM_001354677.1:c.17A= (AP1G2) | NP_001341606.1:p.Gln6= | |
| NM_001354681.1:c.17A= (AP1G2) | NP_001341610.1:p.Gln6= | |
| NR_148937.1:n.1588A= (AP1G2) | ||
| NR_148938.1:n.1389A= (AP1G2) | ||
| XM_005268167.3:c.1331A= (AP1G2) | XP_005268224.1:p.Gln444= | |
| XM_005268168.5:c.1331A= (AP1G2) | XP_005268225.1:p.Gln444= | |
| XM_005268169.3:c.1331A= (AP1G2) | XP_005268226.1:p.Gln444= | |
| XM_005268170.3:c.1331A= (AP1G2) | XP_005268227.1:p.Gln444= | |
| XM_005268172.3:c.1160A= (AP1G2) | XP_005268229.1:p.Gln387= | |
| XM_005268173.3:c.1160A= (AP1G2) | XP_005268230.1:p.Gln387= | |
| XM_005268174.3:c.944A= (AP1G2) | XP_005268231.1:p.Gln315= | |
| XM_005268175.3:c.944A= (AP1G2) | XP_005268232.1:p.Gln315= | |
| XM_005268178.4:c.773A= (AP1G2) | XP_005268235.1:p.Gln258= | |
| XM_005268179.3:c.773A= (AP1G2) | XP_005268236.1:p.Gln258= | |
| XM_005268180.4:c.725A= (AP1G2) | XP_005268237.1:p.Gln242= | |
| XM_005268182.3:c.530A= (AP1G2) | XP_005268239.1:p.Gln177= | |
| XM_006720301.3:c.1331A= (AP1G2) | XP_006720364.1:p.Gln444= | |
| XM_011537283.3:c.1331A= (AP1G2) | XP_011535585.1:p.Gln444= | |
| XM_017021740.1:c.1331A= (AP1G2) | XP_016877229.1:p.Gln444= | |
| XM_017021741.1:c.1190A= (AP1G2) | XP_016877230.1:p.Gln397= | |
| XM_017021742.2:c.944A= (AP1G2) | XP_016877231.1:p.Gln315= | |
| XM_017021745.1:c.1160A= (AP1G2) | XP_016877234.1:p.Gln387= | |
| XM_024449738.1:c.17A= (AP1G2) | XP_024305506.1:p.Gln6= | |
| XR_001750583.2:n.1332A= (AP1G2) | ||
| XR_001750584.2:n.1332A= (AP1G2) | ||
| XR_001750586.1:n.1332A= (AP1G2) | ||
| XR_001750587.1:n.1332A= (AP1G2) | ||
| XR_001750588.2:n.1785A= (AP1G2) | ||
| XR_001750589.1:n.1583A= (AP1G2) | ||
| XR_001750590.2:n.1394A= (AP1G2) | ||
| XR_002957567.1:n.1332A= (AP1G2) | ||
| XR_002957568.1:n.1301A= (AP1G2) | ||
| XR_002957569.1:n.1215A= (AP1G2) | ||
| XR_002957570.1:n.1583A= (AP1G2) | ||
| NM_001282474.2:c.17A= (AP1G2) | NP_001269403.1:p.Gln6= | |
| NM_001282475.2:c.944A= (AP1G2) | NP_001269404.1:p.Gln315= | |
| NM_001354673.2:c.773A= (AP1G2) | NP_001341602.1:p.Gln258= | |
| NM_001354674.2:c.17A= (AP1G2) | NP_001341603.1:p.Gln6= | |
| NM_001354675.2:c.17A= (AP1G2) | NP_001341604.1:p.Gln6= | |
| NM_001354677.2:c.17A= (AP1G2) | NP_001341606.1:p.Gln6= | |
| NM_001354681.2:c.17A= (AP1G2) | NP_001341610.1:p.Gln6= | |
| NM_003917.5:c.1160A= (AP1G2) MANE Select | NP_003908.1:p.Gln387= | |
| NR_148937.2:n.1866A= (AP1G2) | ||
| NR_148938.2:n.1392A= (AP1G2) |