Linked Data
ClinVar Variation Id:
243069
dbSNP Id:
rs202219398
ExAC:
X:129267348 C / A
gnomAD v2:
X-129267348-C-A
gnomAD v3:
X-130133373-C-A
gnomAD v4:
X-130133373-C-A
PubMed:
PMID:26257172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130133373C>A , CM000685.2:g.130133373C>A | GRCh38 |
| NC_000023.10:g.129267348C>A , CM000685.1:g.129267348C>A | GRCh37 |
| NC_000023.9:g.129095029C>A | NCBI36 |
| NG_013217.1:g.37461G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287295.8:c.1388G>T (AIFM1) MANE Select | ENSP00000287295.3:p.Arg463Ile | |
| ENST00000319908.8:c.1385G>T (AIFM1) | ENSP00000315122.4:p.Arg462Ile | |
| ENST00000416073.7:c.*52G>T (AIFM1) | ENSP00000402535.3:n.*52G>T | |
| ENST00000533719.2:n.1180G>T (AIFM1) | ||
| ENST00000535724.6:c.*616G>T (AIFM1) | ENSP00000446113.2:n.*616G>T | |
| ENST00000674546.1:c.1388G>T (AIFM1) | ENSP00000501950.1:p.Arg463Ile | |
| ENST00000674555.1:c.*1123G>T (AIFM1) | ENSP00000502183.1:n.*1123G>T | |
| ENST00000674582.1:n.57G>T (AIFM1) | ||
| ENST00000674601.1:c.235G>T (AIFM1) | ||
| ENST00000674722.1:c.*556G>T (AIFM1) | ENSP00000501693.1:n.*556G>T | |
| ENST00000674957.1:c.1085G>T (AIFM1) | ||
| ENST00000674997.1:c.1245G>T (AIFM1) | ENSP00000502124.1:n.1245G>T | |
| ENST00000675037.1:c.1377+11G>T (AIFM1) | ENSP00000501724.1:n.1377+11G>T | |
| ENST00000675050.1:c.1376G>T (AIFM1) | ENSP00000502606.1:p.Arg459Ile | |
| ENST00000675092.1:c.1388G>T (AIFM1) | ENSP00000501772.1:p.Arg463Ile | |
| ENST00000675111.1:n.1313G>T (AIFM1) | ||
| ENST00000675240.1:c.1388G>T (AIFM1) | ENSP00000501907.1:p.Arg463Ile | |
| ENST00000675427.1:c.1385G>T (AIFM1) | ENSP00000501880.1:p.Arg462Ile | |
| ENST00000675857.1:c.1382G>T (AIFM1) | ENSP00000502721.1:p.Arg461Ile | |
| ENST00000676048.1:n.4510G>T (AIFM1) | ||
| ENST00000676229.1:c.1376G>T (AIFM1) | ENSP00000502184.1:p.Arg459Ile | |
| ENST00000676328.1:c.1385G>T (AIFM1) | ENSP00000502068.1:p.Arg462Ile | |
| ENST00000676436.1:c.1376G>T (AIFM1) | ENSP00000502669.1:p.Arg459Ile | |
| ENST00000287295.7:c.1388G>T (AIFM1) | ENSP00000287295.3:p.Arg463Ile | |
| ENST00000319908.7:c.1376G>T (AIFM1) | ENSP00000315122.3:p.Arg459Ile | |
| ENST00000346424.6:c.527G>T (AIFM1) | ENSP00000316320.3:p.Arg176Ile | |
| ENST00000416073.6:c.*616G>T (AIFM1) | ENSP00000402535.2:n.*616G>T | |
| ENST00000460436.6:c.371G>T (AIFM1) | ENSP00000431222.1:p.Arg124Ile | |
| ENST00000527892.5:c.*1316G>T (AIFM1) | ENSP00000435955.1:n.*1316G>T | |
| ENST00000535724.5:c.*616G>T (AIFM1) | ENSP00000446113.2:n.*616G>T | |
| NM_001130846.2:c.332G>T (AIFM1) | NP_001124318.1:p.Arg111Ile | |
| NM_001130846.3:c.371G>T (AIFM1) | NP_001124318.2:p.Arg124Ile | |
| NM_001130847.3:c.*616G>T (AIFM1) | NP_001124319.1:n.*616G>T | |
| NM_004208.3:c.1388G>T (AIFM1) | NP_004199.1:p.Arg463Ile | |
| NM_145812.2:c.1376G>T (AIFM1) | NP_665811.1:p.Arg459Ile | |
| NM_145813.2:c.527G>T (AIFM1) | NP_665812.1:p.Arg176Ile | |
| NR_132647.1:n.1679G>T (AIFM1) | ||
| XM_017029963.2:c.30+15988C>A (RAB33A) | XP_016885452.1:n.30+15988C>A | |
| NM_004208.4:c.1388G>T (AIFM1) MANE Select | NP_004199.1:p.Arg463Ile | |
| NM_001130846.4:c.371G>T (AIFM1) | NP_001124318.2:p.Arg124Ile | |
| NM_001130847.4:c.*616G>T (AIFM1) | NP_001124319.1:n.*616G>T | |
| NM_145812.3:c.1376G>T (AIFM1) | NP_665811.1:p.Arg459Ile | |
| NR_132647.2:n.1633G>T (AIFM1) |