Revel Score:
ENST00000514985 (MANE Select)
0.023
ENST00000511224
0.023
ENST00000506577
0.023
ENST00000514218
0.023
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.42801166C>A , CM000667.2:g.42801166C>A | GRCh38 |
| NC_000005.9:g.42801268C>A , CM000667.1:g.42801268C>A | GRCh37 |
| NC_000005.8:g.42837025C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361970.10:c.*1385C>A (CCDC152) MANE Select | ENSP00000354888.5:n.*1385C>A | |
| ENST00000514985.6:c.700G>T (SELENOP) MANE Select | ENSP00000420939.1:p.Ala234Ser | |
| ENST00000361970.9:c.*1385C>A (CCDC152) | ENSP00000354888.5:n.*1385C>A | |
| ENST00000506577.5:c.700G>T (SELENOP) | ENSP00000425915.1:p.Ala234Ser | |
| ENST00000507920.5:c.369G>T (SELENOP) | ENSP00000473340.1:p.Met123Ile | |
| ENST00000509276.5:n.500G>T (SELENOP) | ||
| ENST00000511224.5:c.700G>T (SELENOP) | ENSP00000427671.1:p.Ala234Ser | |
| ENST00000512980.5:n.2892G>T (SELENOP) | ||
| ENST00000513303.5:n.653G>T (SELENOP) | ||
| ENST00000514218.5:c.700G>T (SELENOP) | ENSP00000421626.1:p.Ala234Ser | |
| ENST00000514985.5:c.700G>T (SELENOP) | ENSP00000420939.1:p.Ala234Ser | |
| NM_001085486.1:c.700G>T (SELENOP) | NP_001078955.1:p.Ala234Ser | |
| NM_001093726.1:c.790G>T (SELENOP) | NP_001087195.1:p.Ala264Ser | |
| NM_001134848.1:c.*1385C>A (CCDC152) | NP_001128320.1:n.*1385C>A | |
| NM_005410.2:c.700G>T (SELENOP) | NP_005401.3:p.Ala234Ser | |
| NM_001085486.2:c.700G>T (SELENOP) | NP_001078955.1:p.Ala234Ser | |
| NM_001093726.2:c.790G>T (SELENOP) | NP_001087195.1:p.Ala264Ser | |
| NM_005410.3:c.700G>T (SELENOP) | NP_005401.3:p.Ala234Ser | |
| NM_001134848.2:c.*1385C>A (CCDC152) MANE Select | NP_001128320.1:n.*1385C>A | |
| NM_005410.4:c.700G>T (SELENOP) MANE Select | NP_005401.3:p.Ala234Ser | |
| NM_001085486.3:c.700G>T (SELENOP) | NP_001078955.1:p.Ala234Ser | |
| NM_001093726.3:c.790G>T (SELENOP) | NP_001087195.1:p.Ala264Ser |