Revel Score:
ENST00000356721
0.915
ENST00000394725 (MANE Select)
0.915
ENST00000380006
0.915
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.48362046C>A , CM000678.2:g.48362046C>A | GRCh38 |
| NC_000016.9:g.48395957C>A , CM000678.1:g.48395957C>A | GRCh37 |
| NC_000016.8:g.46953458C>A | NCBI36 |
| NG_029599.1:g.28273G>T | |
| NG_053011.1:g.122880C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394725.3:c.383G>T (SIAH1) MANE Select | ENSP00000378214.2:p.Cys128Phe | |
| ENST00000356721.3:c.476G>T (SIAH1) | ENSP00000349156.3:p.Cys159Phe | |
| ENST00000380006.2:c.383G>T (SIAH1) | ENSP00000369343.2:p.Cys128Phe | |
| ENST00000394725.2:c.383G>T (SIAH1) | ENSP00000378214.2:p.Cys128Phe | |
| ENST00000565867.2:c.893C>A (LONP2) | ||
| ENST00000566719.1:n.1595C>A (LONP2) | ||
| ENST00000568007.5:c.383G>T (SIAH1) | ENSP00000456421.1:p.Cys128Phe | |
| NM_001006610.1:c.476G>T (SIAH1) | NP_001006611.1:p.Cys159Phe | |
| NM_003031.3:c.383G>T (SIAH1) | NP_003022.3:p.Cys128Phe | |
| NR_040677.1:n.1596C>A | ||
| XM_006721246.1:c.383G>T (SIAH1) | XP_006721309.1:p.Cys128Phe | |
| XM_011523279.1:c.383G>T (SIAH1) | XP_011521581.1:p.Cys128Phe | |
| NM_001348078.1:c.*450C>A (LONP2) | NP_001335007.1:n.*450C>A | |
| XM_006721246.2:c.383G>T (SIAH1) | XP_006721309.1:p.Cys128Phe | |
| XM_011523279.2:c.383G>T (SIAH1) | XP_011521581.1:p.Cys128Phe | |
| XM_024450394.1:c.383G>T (SIAH1) | XP_024306162.1:p.Cys128Phe | |
| XM_024450395.1:c.383G>T (SIAH1) | XP_024306163.1:p.Cys128Phe | |
| NM_003031.4:c.383G>T (SIAH1) MANE Select | NP_003022.3:p.Cys128Phe | |
| NM_001006610.2:c.476G>T (SIAH1) | NP_001006611.1:p.Cys159Phe | |
| NM_001348078.2:c.*450C>A (LONP2) | NP_001335007.1:n.*450C>A |