Revel Score:
ENST00000401884
0.103
ENST00000310397 (MANE Select)
0.103
gnomAD v4:
Joint Max Group AF
0.00001594 (SAS)
Exomes Max Group AF
0.0000166 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241073314G>T , CM000664.2:g.241073314G>T | GRCh38 |
| NC_000002.11:g.242012729G>T , CM000664.1:g.242012729G>T | GRCh37 |
| NC_000002.10:g.241661402G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310397.13:c.3866G>T (SNED1) MANE Select | ENSP00000308893.8:p.Arg1289Leu | |
| ENST00000310397.12:c.3866G>T (SNED1) | ENSP00000308893.8:p.Arg1289Leu | |
| ENST00000342631.7:c.1522+1436G>T (SNED1) | ENSP00000342992.7:n.1522+1436G>T | |
| ENST00000401884.5:c.3866G>T (SNED1) | ENSP00000384871.1:p.Arg1289Leu | |
| ENST00000405547.7:c.3817+1436G>T (SNED1) | ENSP00000386007.3:n.3817+1436G>T | |
| ENST00000464344.6:n.2848C>A (MTERF4) | ||
| ENST00000466618.1:n.1655+1436G>T (SNED1) | ||
| ENST00000491761.1:n.1834G>T (SNED1) | ||
| NM_001080437.1:c.3866G>T (SNED1) | NP_001073906.1:p.Arg1289Leu | |
| XM_011510931.1:c.3938G>T (SNED1) | XP_011509233.1:p.Arg1313Leu | |
| XM_011510932.1:c.3889+1436G>T (SNED1) | XP_011509234.1:n.3889+1436G>T | |
| XM_011510933.1:c.3938G>T (SNED1) | XP_011509235.1:p.Arg1313Leu | |
| XM_011510935.1:c.*97G>T (SNED1) | XP_011509237.1:n.*97G>T | |
| XM_011510936.1:c.*48+1436G>T (SNED1) | XP_011509238.1:n.*48+1436G>T | |
| XR_427084.2:n.1820G>T (SNED1) | ||
| XR_922895.1:n.3968G>T (SNED1) | ||
| XR_922896.1:n.3954G>T (SNED1) | ||
| XR_922897.1:n.3923+1436G>T (SNED1) | ||
| XR_922898.1:n.3854G>T (SNED1) | ||
| XR_922899.1:n.3759G>T (SNED1) | ||
| XR_922900.1:n.3728G>T (SNED1) | ||
| XR_922901.1:n.3882G>T (SNED1) | ||
| NM_001080437.2:c.3866G>T (SNED1) | NP_001073906.1:p.Arg1289Leu | |
| XM_011510931.2:c.3938G>T (SNED1) | XP_011509233.1:p.Arg1313Leu | |
| XM_011510932.2:c.3889+1436G>T (SNED1) | XP_011509234.1:n.3889+1436G>T | |
| XM_011510933.2:c.3938G>T (SNED1) | XP_011509235.1:p.Arg1313Leu | |
| XM_024452784.1:c.3938G>T (SNED1) | XP_024308552.1:p.Arg1313Leu | |
| XR_001738694.1:n.4039G>T (SNED1) | ||
| XR_001738695.1:n.3990+1436G>T (SNED1) | ||
| XR_002959254.1:n.4182G>T (SNED1) | ||
| XR_002959255.1:n.3950G>T (SNED1) | ||
| XR_002959256.1:n.4134+1436G>T (SNED1) | ||
| XR_002959257.1:n.4068G>T (SNED1) | ||
| XR_002959258.1:n.3958G>T (SNED1) | ||
| XR_002959259.1:n.3946G>T (SNED1) | ||
| XR_002959260.1:n.3882G>T (SNED1) | ||
| XR_002959261.1:n.3738G>T (SNED1) | ||
| XR_002959262.1:n.3714G>T (SNED1) | ||
| XR_002959263.1:n.3077G>T (SNED1) | ||
| NM_001080437.3:c.3866G>T (SNED1) MANE Select | NP_001073906.1:p.Arg1289Leu | |
| NR_138463.2:n.5493C>A (MTERF4) |