Revel Score:
ENST00000164305 (MANE Select)
0.184
ENST00000539642
0.184
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55355378A>G , CM000677.2:g.55355378A>G | GRCh38 |
| NC_000015.9:g.55647576A>G , CM000677.1:g.55647576A>G | GRCh37 |
| NC_000015.8:g.53434868A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164305.10:c.1611A>G (PIGB) MANE Select | ENSP00000164305.5:p.Ile537Met | |
| ENST00000442196.8:c.*842T>C (CCPG1) MANE Select | ENSP00000403400.3:n.*842T>C | |
| ENST00000164305.9:c.1611A>G (PIGB) | ENSP00000164305.5:p.Ile537Met | |
| ENST00000310958.10:c.*4121T>C (CCPG1) | ENSP00000311656.6:n.*4121T>C | |
| ENST00000442196.7:c.*842T>C (CCPG1) | ENSP00000403400.3:n.*842T>C | |
| ENST00000539642.5:c.1614A>G (PIGB) | ENSP00000438963.2:p.Ile538Met | |
| ENST00000562751.1:n.487A>G (PIGB) | ||
| ENST00000563742.1:n.1668A>G (PIGB) | ||
| ENST00000564663.1:c.242+934T>C (CCPG1) | ||
| ENST00000565367.5:c.*847A>G (PIGB) | ENSP00000455943.1:n.*847A>G | |
| ENST00000565502.5:c.515A>G (PIGB) | ENSP00000455040.1:n.515A>G | |
| NM_001204450.1:c.*842T>C (CCPG1) | NP_001191379.1:n.*842T>C | |
| NM_001204451.1:c.*842T>C (CCPG1) | NP_001191380.1:n.*842T>C | |
| NM_004748.4:c.*4121T>C (CCPG1) | NP_004739.3:n.*4121T>C | |
| NM_004855.4:c.1611A>G (PIGB) | NP_004846.4:p.Ile537Met | |
| NM_020739.3:c.*4121T>C (CCPG1) | NP_065790.2:n.*4121T>C | |
| NR_037923.1:n.4683T>C (DNAAF4-CCPG1) | ||
| XM_005254795.3:c.1128A>G (PIGB) | XP_005254852.1:p.Ile376Met | |
| XM_011522235.1:c.1566A>G (PIGB) | XP_011520537.1:p.Ile522Met | |
| XM_011522236.1:c.1506A>G (PIGB) | XP_011520538.1:p.Ile502Met | |
| XM_011522237.1:c.1212A>G (PIGB) | XP_011520539.1:p.Ile404Met | |
| XR_931950.1:n.1713A>G (PIGB) | ||
| XM_005254795.5:c.1128A>G (PIGB) | XP_005254852.1:p.Ile376Met | |
| XM_011522235.3:c.1566A>G (PIGB) | XP_011520537.1:p.Ile522Met | |
| XM_011522236.3:c.1506A>G (PIGB) | XP_011520538.1:p.Ile502Met | |
| XM_011522237.2:c.1212A>G (PIGB) | XP_011520539.1:p.Ile404Met | |
| XM_017022730.1:c.1212A>G (PIGB) | XP_016878219.1:p.Ile404Met | |
| XM_017022731.1:c.1212A>G (PIGB) | XP_016878220.1:p.Ile404Met | |
| XM_017022732.2:c.1083A>G (PIGB) | XP_016878221.1:p.Ile361Met | |
| XR_001751423.2:n.1664A>G (PIGB) | ||
| XR_931950.3:n.1709A>G (PIGB) | ||
| NM_004855.5:c.1611A>G (PIGB) MANE Select | NP_004846.4:p.Ile537Met | |
| NM_004748.5:c.*4121T>C (CCPG1) | NP_004739.3:n.*4121T>C | |
| NM_020739.4:c.*4121T>C (CCPG1) | NP_065790.2:n.*4121T>C | |
| NM_001204450.2:c.*842T>C (CCPG1) MANE Select | NP_001191379.1:n.*842T>C | |
| NM_001204451.2:c.*842T>C (CCPG1) | NP_001191380.1:n.*842T>C | |
| NM_004748.6:c.*4121T>C (CCPG1) | NP_004739.3:n.*4121T>C | |
| NM_020739.5:c.*4121T>C (CCPG1) | NP_065790.2:n.*4121T>C |