Linked Data
ClinVar Variation Id:
369972
ClinVar RCV Id:
RCV000408758
dbSNP Id:
rs1057516211
PubMed:
PMID:28299359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130133325T>C , CM000685.2:g.130133325T>C | GRCh38 |
| NC_000023.10:g.129267300T>C , CM000685.1:g.129267300T>C | GRCh37 |
| NC_000023.9:g.129094981T>C | NCBI36 |
| NG_013217.1:g.37509A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287295.8:c.1436A>G (AIFM1) MANE Select | ENSP00000287295.3:p.Gln479Arg | |
| ENST00000319908.8:c.1433A>G (AIFM1) | ENSP00000315122.4:p.Gln478Arg | |
| ENST00000416073.7:c.*100A>G (AIFM1) | ENSP00000402535.3:n.*100A>G | |
| ENST00000533719.2:n.1228A>G (AIFM1) | ||
| ENST00000535724.6:c.*664A>G (AIFM1) | ENSP00000446113.2:n.*664A>G | |
| ENST00000674546.1:c.1436A>G (AIFM1) | ENSP00000501950.1:p.Gln479Arg | |
| ENST00000674555.1:c.*1171A>G (AIFM1) | ENSP00000502183.1:n.*1171A>G | |
| ENST00000674582.1:n.105A>G (AIFM1) | ||
| ENST00000674601.1:c.283A>G (AIFM1) | ||
| ENST00000674722.1:c.*604A>G (AIFM1) | ENSP00000501693.1:n.*604A>G | |
| ENST00000674957.1:c.1133A>G (AIFM1) | ||
| ENST00000674997.1:c.1293A>G (AIFM1) | ENSP00000502124.1:n.1293A>G | |
| ENST00000675037.1:c.1377+59A>G (AIFM1) | ENSP00000501724.1:n.1377+59A>G | |
| ENST00000675050.1:c.1424A>G (AIFM1) | ENSP00000502606.1:p.Gln475Arg | |
| ENST00000675092.1:c.1436A>G (AIFM1) | ENSP00000501772.1:p.Gln479Arg | |
| ENST00000675111.1:n.1361A>G (AIFM1) | ||
| ENST00000675240.1:c.1436A>G (AIFM1) | ENSP00000501907.1:p.Gln479Arg | |
| ENST00000675427.1:c.1433A>G (AIFM1) | ENSP00000501880.1:p.Gln478Arg | |
| ENST00000675857.1:c.1430A>G (AIFM1) | ENSP00000502721.1:p.Gln477Arg | |
| ENST00000676048.1:n.4558A>G (AIFM1) | ||
| ENST00000676229.1:c.1424A>G (AIFM1) | ENSP00000502184.1:p.Gln475Arg | |
| ENST00000676328.1:c.1433A>G (AIFM1) | ENSP00000502068.1:p.Gln478Arg | |
| ENST00000676436.1:c.1424A>G (AIFM1) | ENSP00000502669.1:p.Gln475Arg | |
| ENST00000287295.7:c.1436A>G (AIFM1) | ENSP00000287295.3:p.Gln479Arg | |
| ENST00000319908.7:c.1424A>G (AIFM1) | ENSP00000315122.3:p.Gln475Arg | |
| ENST00000346424.6:c.575A>G (AIFM1) | ENSP00000316320.3:p.Gln192Arg | |
| ENST00000416073.6:c.*664A>G (AIFM1) | ENSP00000402535.2:n.*664A>G | |
| ENST00000460436.6:c.419A>G (AIFM1) | ENSP00000431222.1:p.Gln140Arg | |
| ENST00000527892.5:c.*1364A>G (AIFM1) | ENSP00000435955.1:n.*1364A>G | |
| ENST00000535724.5:c.*664A>G (AIFM1) | ENSP00000446113.2:n.*664A>G | |
| NM_001130846.2:c.380A>G (AIFM1) | NP_001124318.1:p.Gln127Arg | |
| NM_001130846.3:c.419A>G (AIFM1) | NP_001124318.2:p.Gln140Arg | |
| NM_001130847.3:c.*664A>G (AIFM1) | NP_001124319.1:n.*664A>G | |
| NM_004208.3:c.1436A>G (AIFM1) | NP_004199.1:p.Gln479Arg | |
| NM_145812.2:c.1424A>G (AIFM1) | NP_665811.1:p.Gln475Arg | |
| NM_145813.2:c.575A>G (AIFM1) | NP_665812.1:p.Gln192Arg | |
| NR_132647.1:n.1727A>G (AIFM1) | ||
| XM_017029963.2:c.30+15940T>C (RAB33A) | XP_016885452.1:n.30+15940T>C | |
| NM_004208.4:c.1436A>G (AIFM1) MANE Select | NP_004199.1:p.Gln479Arg | |
| NM_001130846.4:c.419A>G (AIFM1) | NP_001124318.2:p.Gln140Arg | |
| NM_001130847.4:c.*664A>G (AIFM1) | NP_001124319.1:n.*664A>G | |
| NM_145812.3:c.1424A>G (AIFM1) | NP_665811.1:p.Gln475Arg | |
| NR_132647.2:n.1681A>G (AIFM1) |