Revel Score:
ENST00000460436
0.429
ENST00000346424
0.429
ENST00000319908
0.429
ENST00000440263
0.429
ENST00000287295 (MANE Select)
0.429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130130148T>A , CM000685.2:g.130130148T>A | GRCh38 |
| NC_000023.10:g.129264123T>A , CM000685.1:g.129264123T>A | GRCh37 |
| NC_000023.9:g.129091804T>A | NCBI36 |
| NG_013217.1:g.40686A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287295.8:c.1592A>T (AIFM1) MANE Select | ENSP00000287295.3:p.Glu531Val | |
| ENST00000319908.8:c.1586A>T (AIFM1) | ENSP00000315122.4:p.Glu529Val | |
| ENST00000416073.7:c.*256A>T (AIFM1) | ENSP00000402535.3:n.*256A>T | |
| ENST00000535724.6:c.*820A>T (AIFM1) | ENSP00000446113.2:n.*820A>T | |
| ENST00000674546.1:c.1600A>T (AIFM1) | ENSP00000501950.1:p.Arg534Ter | |
| ENST00000674555.1:c.*1327A>T (AIFM1) | ENSP00000502183.1:n.*1327A>T | |
| ENST00000674582.1:n.1769A>T (AIFM1) | ||
| ENST00000674591.1:n.1078A>T (AIFM1) | ||
| ENST00000674601.1:c.439A>T (AIFM1) | ||
| ENST00000674722.1:c.*760A>T (AIFM1) | ENSP00000501693.1:n.*760A>T | |
| ENST00000674957.1:c.1289A>T (AIFM1) | ||
| ENST00000674997.1:c.1449A>T (AIFM1) | ENSP00000502124.1:n.1449A>T | |
| ENST00000675037.1:c.*138A>T (AIFM1) | ENSP00000501724.1:n.*138A>T | |
| ENST00000675050.1:c.1580A>T (AIFM1) | ENSP00000502606.1:p.Glu527Val | |
| ENST00000675092.1:c.1619A>T (AIFM1) | ENSP00000501772.1:p.Glu540Val | |
| ENST00000675111.1:n.1517A>T (AIFM1) | ||
| ENST00000675240.1:c.1574-46A>T (AIFM1) | ENSP00000501907.1:n.1574-46A>T | |
| ENST00000675427.1:c.1589A>T (AIFM1) | ENSP00000501880.1:p.Glu530Val | |
| ENST00000675857.1:c.1586A>T (AIFM1) | ENSP00000502721.1:p.Glu529Val | |
| ENST00000676048.1:n.4714A>T (AIFM1) | ||
| ENST00000676229.1:c.1580A>T (AIFM1) | ENSP00000502184.1:p.Glu527Val | |
| ENST00000676328.1:c.1589A>T (AIFM1) | ENSP00000502068.1:p.Glu530Val | |
| ENST00000676436.1:c.1580A>T (AIFM1) | ENSP00000502669.1:p.Glu527Val | |
| ENST00000287295.7:c.1592A>T (AIFM1) | ENSP00000287295.3:p.Glu531Val | |
| ENST00000319908.7:c.1580A>T (AIFM1) | ENSP00000315122.3:p.Glu527Val | |
| ENST00000346424.6:c.731A>T (AIFM1) | ENSP00000316320.3:p.Glu244Val | |
| ENST00000416073.6:c.*820A>T (AIFM1) | ENSP00000402535.2:n.*820A>T | |
| ENST00000460436.6:c.575A>T (AIFM1) | ENSP00000431222.1:p.Glu192Val | |
| ENST00000527892.5:c.*1520A>T (AIFM1) | ENSP00000435955.1:n.*1520A>T | |
| ENST00000535724.5:c.*820A>T (AIFM1) | ENSP00000446113.2:n.*820A>T | |
| NM_001130846.2:c.536A>T (AIFM1) | NP_001124318.1:p.Glu179Val | |
| NM_001130846.3:c.575A>T (AIFM1) | NP_001124318.2:p.Glu192Val | |
| NM_001130847.3:c.*820A>T (AIFM1) | NP_001124319.1:n.*820A>T | |
| NM_004208.3:c.1592A>T (AIFM1) | NP_004199.1:p.Glu531Val | |
| NM_145812.2:c.1580A>T (AIFM1) | NP_665811.1:p.Glu527Val | |
| NM_145813.2:c.731A>T (AIFM1) | NP_665812.1:p.Glu244Val | |
| NR_132647.1:n.1883A>T (AIFM1) | ||
| XM_017029963.2:c.30+12763T>A (RAB33A) | XP_016885452.1:n.30+12763T>A | |
| NM_004208.4:c.1592A>T (AIFM1) MANE Select | NP_004199.1:p.Glu531Val | |
| NM_001130846.4:c.575A>T (AIFM1) | NP_001124318.2:p.Glu192Val | |
| NM_001130847.4:c.*820A>T (AIFM1) | NP_001124319.1:n.*820A>T | |
| NM_145812.3:c.1580A>T (AIFM1) | NP_665811.1:p.Glu527Val | |
| NR_132647.2:n.1837A>T (AIFM1) |