Revel Score:
ENST00000513973 (MANE Select)
0.880
ENST00000512866
0.880
ENST00000283977
0.880
ENST00000506587
0.880
ENST00000509219
0.880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83170343C>G , CM000668.2:g.83170343C>G | GRCh38 |
| NC_000006.11:g.83880062C>G , CM000668.1:g.83880062C>G | GRCh37 |
| NC_000006.10:g.83936781C>G | NCBI36 |
| NG_034146.1:g.28594G>C | |
| NG_034146.2:g.28558G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504780.6:c.*452G>C (PGM3) | ENSP00000421154.2:n.*452G>C | |
| ENST00000505470.6:c.*1281G>C (PGM3) | ENSP00000423769.1:n.*1281G>C | |
| ENST00000507554.2:c.1501G>C (PGM3) | ENSP00000425558.2:p.Glu501Gln | |
| ENST00000508748.6:c.1585G>C (PGM3) | ENSP00000424865.2:p.Glu529Gln | |
| ENST00000651204.2:c.*239G>C (PGM3) | ENSP00000498912.2:n.*239G>C | |
| ENST00000651698.2:c.*452G>C (PGM3) | ENSP00000498398.2:n.*452G>C | |
| ENST00000652222.2:c.1402G>C (PGM3) | ENSP00000499141.2:p.Glu468Gln | |
| ENST00000698524.1:c.1501G>C (PGM3) | ENSP00000513773.1:p.Glu501Gln | |
| ENST00000698525.1:c.577G>C (PGM3) | ENSP00000513774.1:p.Glu193Gln | |
| ENST00000698526.1:c.1501G>C (PGM3) | ENSP00000513775.1:p.Glu501Gln | |
| ENST00000698599.1:c.1501G>C (PGM3) | ENSP00000513827.1:p.Glu501Gln | |
| ENST00000698600.1:c.*452G>C (PGM3) | ENSP00000513828.1:n.*452G>C | |
| ENST00000698601.1:c.*1080G>C (PGM3) | ENSP00000513829.1:n.*1080G>C | |
| ENST00000698602.1:c.1501G>C (PGM3) | ENSP00000513830.1:p.Glu501Gln | |
| ENST00000698603.1:c.*1277G>C (PGM3) | ENSP00000513831.1:n.*1277G>C | |
| ENST00000698604.1:c.*1039G>C (PGM3) | ENSP00000513832.1:n.*1039G>C | |
| ENST00000698605.1:c.*1281G>C (PGM3) | ENSP00000513833.1:n.*1281G>C | |
| ENST00000698606.1:n.3350G>C (PGM3) | ||
| ENST00000698607.1:c.*1926G>C (PGM3) | ENSP00000513834.1:n.*1926G>C | |
| ENST00000698608.1:c.1159G>C (PGM3) | ENSP00000513835.1:p.Glu387Gln | |
| ENST00000698609.1:c.*1959G>C (PGM3) | ENSP00000513836.1:n.*1959G>C | |
| ENST00000698610.1:c.1258G>C (PGM3) | ENSP00000513837.1:p.Glu420Gln | |
| ENST00000698611.1:n.5138G>C (PGM3) | ||
| ENST00000698612.1:c.1063G>C (PGM3) | ENSP00000513838.1:p.Glu355Gln | |
| ENST00000698613.1:c.1402G>C (PGM3) | ENSP00000513839.1:p.Glu468Gln | |
| ENST00000698614.1:c.*452G>C (PGM3) | ENSP00000513840.1:n.*452G>C | |
| ENST00000698615.1:c.*1100G>C (PGM3) | ENSP00000513841.1:n.*1100G>C | |
| ENST00000283977.9:c.1258G>C (PGM3) | ENSP00000283977.5:p.Glu420Gln | |
| ENST00000509219.2:c.1501G>C (PGM3) | ENSP00000423389.2:p.Glu501Gln | |
| ENST00000513973.6:c.1501G>C (PGM3) MANE Select | ENSP00000424874.1:p.Glu501Gln | |
| ENST00000616566.5:c.1135G>C (PGM3) | ENSP00000477539.2:p.Glu379Gln | |
| ENST00000650640.1:c.*485G>C (PGM3) | ENSP00000498423.1:n.*485G>C | |
| ENST00000650642.1:c.1378G>C (PGM3) | ENSP00000498516.1:p.Glu460Gln | |
| ENST00000651204.1:c.997G>C (PGM3) | ||
| ENST00000651425.1:c.1258G>C (PGM3) | ENSP00000498986.1:p.Glu420Gln | |
| ENST00000651698.1:c.615G>C (PGM3) | ||
| ENST00000652222.1:c.1156G>C (PGM3) | ENSP00000499141.1:p.Glu386Gln | |
| ENST00000652468.1:c.1501G>C (PGM3) | ENSP00000499112.1:p.Glu501Gln | |
| ENST00000283977.8:c.1258G>C (PGM3) | ENSP00000283977.4:p.Glu420Gln | |
| ENST00000484282.1:n.4466C>G (DOP1A) | ||
| ENST00000504780.5:c.213G>C (PGM3) | ||
| ENST00000506587.5:c.1585G>C (PGM3) | ENSP00000425809.1:p.Glu529Gln | |
| ENST00000509219.1:c.394G>C (PGM3) | ENSP00000423389.1:p.Glu132Gln | |
| ENST00000512866.5:c.1501G>C (PGM3) | ENSP00000421565.1:p.Glu501Gln | |
| ENST00000513973.5:c.1501G>C (PGM3) | ENSP00000424874.1:p.Glu501Gln | |
| ENST00000616566.4:c.1258G>C (PGM3) | ENSP00000477539.1:p.Glu420Gln | |
| NM_001199917.1:c.1585G>C (PGM3) | NP_001186846.1:p.Glu529Gln | |
| NM_001199918.1:c.1258G>C (PGM3) | NP_001186847.1:p.Glu420Gln | |
| NM_001199919.1:c.1501G>C (PGM3) | NP_001186848.1:p.Glu501Gln | |
| NM_015599.2:c.1501G>C (PGM3) | NP_056414.1:p.Glu501Gln | |
| XM_011535901.1:c.1585G>C (PGM3) | XP_011534203.1:p.Glu529Gln | |
| XM_011535902.1:c.1585G>C (PGM3) | XP_011534204.1:p.Glu529Gln | |
| XM_011535903.1:c.1585G>C (PGM3) | XP_011534205.1:p.Glu529Gln | |
| XR_942476.1:n.1742G>C (PGM3) | ||
| XR_942477.1:n.1727G>C (PGM3) | ||
| XR_942478.1:n.1591G>C (PGM3) | ||
| XR_942479.1:n.1617G>C (PGM3) | ||
| XR_942480.1:n.1385G>C (PGM3) | ||
| XM_011535619.2:c.*701C>G (DOP1A) | XP_011533921.1:n.*701C>G | |
| XM_017010559.1:c.*701C>G (DOP1A) | XP_016866048.1:n.*701C>G | |
| XM_017010560.2:c.*701C>G (DOP1A) | XP_016866049.1:n.*701C>G | |
| XM_017010561.1:c.*701C>G (DOP1A) | XP_016866050.1:n.*701C>G | |
| XM_017010562.2:c.*701C>G (DOP1A) | XP_016866051.1:n.*701C>G | |
| XM_017010564.1:c.*701C>G (DOP1A) | XP_016866053.1:n.*701C>G | |
| XM_017010566.1:c.*701C>G (DOP1A) | XP_016866055.1:n.*701C>G | |
| XM_017010570.1:c.*701C>G (DOP1A) | XP_016866059.1:n.*701C>G | |
| XM_017010571.1:c.*701C>G (DOP1A) | XP_016866060.1:n.*701C>G | |
| XM_017010572.1:c.*701C>G (DOP1A) | XP_016866061.1:n.*701C>G | |
| XM_017010935.1:c.1258G>C (PGM3) | XP_016866424.1:p.Glu420Gln | |
| XM_017010937.1:c.1135G>C (PGM3) | XP_016866426.1:p.Glu379Gln | |
| XM_024446459.1:c.1378G>C (PGM3) | XP_024302227.1:p.Glu460Gln | |
| XM_024446460.1:c.1585G>C (PGM3) | XP_024302228.1:p.Glu529Gln | |
| XR_001743468.2:n.1385G>C (PGM3) | ||
| XR_942478.3:n.1591G>C (PGM3) | ||
| XR_942480.2:n.1385G>C (PGM3) | ||
| NM_001199917.2:c.1585G>C (PGM3) | NP_001186846.1:p.Glu529Gln | |
| NM_001367286.1:c.1378G>C (PGM3) | NP_001354215.1:p.Glu460Gln | |
| NM_001367287.1:c.1585G>C (PGM3) | NP_001354216.1:p.Glu529Gln | |
| NM_015599.3:c.1501G>C (PGM3) MANE Select | NP_056414.1:p.Glu501Gln | |
| NR_159812.1:n.1590G>C (PGM3) | ||
| NM_001199918.2:c.1258G>C (PGM3) | NP_001186847.1:p.Glu420Gln | |
| NM_001199919.2:c.1501G>C (PGM3) | NP_001186848.1:p.Glu501Gln | |
| NR_159812.2:n.1590G>C (PGM3) | ||
| NR_169791.1:n.8327C>G (DOP1A) |