Linked Data
ClinVar Variation Id:
162479
dbSNP Id:
rs724160020
gnomAD v4:
X-130136086-G-A
PubMed:
PMID:25986071
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130136086G>A , CM000685.2:g.130136086G>A | GRCh38 |
| NC_000023.10:g.129270061G>A , CM000685.1:g.129270061G>A | GRCh37 |
| NC_000023.9:g.129097742G>A | NCBI36 |
| NG_013217.1:g.34748C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287295.8:c.1264C>T (AIFM1) MANE Select | ENSP00000287295.3:p.Arg422Trp | |
| ENST00000319908.8:c.1261C>T (AIFM1) | ENSP00000315122.4:p.Arg421Trp | |
| ENST00000416073.7:c.1258C>T (AIFM1) | ENSP00000402535.3:p.Arg420Trp | |
| ENST00000533719.2:n.1056C>T (AIFM1) | ||
| ENST00000535724.6:c.*492C>T (AIFM1) | ENSP00000446113.2:n.*492C>T | |
| ENST00000674546.1:c.1264C>T (AIFM1) | ENSP00000501950.1:p.Arg422Trp | |
| ENST00000674555.1:c.*999C>T (AIFM1) | ENSP00000502183.1:n.*999C>T | |
| ENST00000674601.1:c.152+557C>T (AIFM1) | ||
| ENST00000674722.1:c.*432C>T (AIFM1) | ENSP00000501693.1:n.*432C>T | |
| ENST00000674957.1:c.961C>T (AIFM1) | ||
| ENST00000674997.1:c.1121C>T (AIFM1) | ENSP00000502124.1:n.1121C>T | |
| ENST00000675015.1:n.1603C>T (AIFM1) | ||
| ENST00000675037.1:c.1264C>T (AIFM1) | ENSP00000501724.1:p.Arg422Trp | |
| ENST00000675050.1:c.1252C>T (AIFM1) | ENSP00000502606.1:p.Arg418Trp | |
| ENST00000675092.1:c.1264C>T (AIFM1) | ENSP00000501772.1:p.Arg422Trp | |
| ENST00000675111.1:n.1189C>T (AIFM1) | ||
| ENST00000675240.1:c.1264C>T (AIFM1) | ENSP00000501907.1:p.Arg422Trp | |
| ENST00000675427.1:c.1264C>T (AIFM1) | ENSP00000501880.1:p.Arg422Trp | |
| ENST00000675857.1:c.1258C>T (AIFM1) | ENSP00000502721.1:p.Arg420Trp | |
| ENST00000676048.1:n.4386C>T (AIFM1) | ||
| ENST00000676229.1:c.1252C>T (AIFM1) | ENSP00000502184.1:p.Arg418Trp | |
| ENST00000676328.1:c.1261C>T (AIFM1) | ENSP00000502068.1:p.Arg421Trp | |
| ENST00000676436.1:c.1252C>T (AIFM1) | ENSP00000502669.1:p.Arg418Trp | |
| ENST00000287295.7:c.1264C>T (AIFM1) | ENSP00000287295.3:p.Arg422Trp | |
| ENST00000319908.7:c.1252C>T (AIFM1) | ENSP00000315122.3:p.Arg418Trp | |
| ENST00000346424.6:c.403C>T (AIFM1) | ENSP00000316320.3:p.Arg135Trp | |
| ENST00000416073.6:c.*492C>T (AIFM1) | ENSP00000402535.2:n.*492C>T | |
| ENST00000460436.6:c.247C>T (AIFM1) | ENSP00000431222.1:p.Arg83Trp | |
| ENST00000527892.5:c.*1192C>T (AIFM1) | ENSP00000435955.1:n.*1192C>T | |
| ENST00000535724.5:c.*492C>T (AIFM1) | ENSP00000446113.2:n.*492C>T | |
| NM_001130846.2:c.208C>T (AIFM1) | NP_001124318.1:p.Arg70Trp | |
| NM_001130846.3:c.247C>T (AIFM1) | NP_001124318.2:p.Arg83Trp | |
| NM_001130847.3:c.*492C>T (AIFM1) | NP_001124319.1:n.*492C>T | |
| NM_004208.3:c.1264C>T (AIFM1) | NP_004199.1:p.Arg422Trp | |
| NM_145812.2:c.1252C>T (AIFM1) | NP_665811.1:p.Arg418Trp | |
| NM_145813.2:c.403C>T (AIFM1) | NP_665812.1:p.Arg135Trp | |
| NR_132647.1:n.1555C>T (AIFM1) | ||
| XM_017029963.2:c.30+18701G>A (RAB33A) | XP_016885452.1:n.30+18701G>A | |
| NM_004208.4:c.1264C>T (AIFM1) MANE Select | NP_004199.1:p.Arg422Trp | |
| NM_001130846.4:c.247C>T (AIFM1) | NP_001124318.2:p.Arg83Trp | |
| NM_001130847.4:c.*492C>T (AIFM1) | NP_001124319.1:n.*492C>T | |
| NM_145812.3:c.1252C>T (AIFM1) | NP_665811.1:p.Arg418Trp | |
| NR_132647.2:n.1509C>T (AIFM1) |