Revel Score:
ENST00000284240 (MANE Select)
0.068
ENST00000528522
0.068
ENST00000524970
0.068
ENST00000524659
0.068
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119420318G>C , CM000673.2:g.119420318G>C | GRCh38 |
| NC_000011.9:g.119291028G>C , CM000673.1:g.119291028G>C | GRCh37 |
| NC_000011.8:g.118796238G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284240.10:c.106C>G (THY1) MANE Select | ENSP00000284240.6:p.Leu36Val | |
| ENST00000284240.9:c.106C>G (THY1) | ENSP00000284240.5:p.Leu36Val | |
| ENST00000524659.1:c.106C>G (THY1) | ENSP00000435753.1:p.Leu36Val | |
| ENST00000524970.5:c.106C>G (THY1) | ENSP00000432808.1:p.Leu36Val | |
| ENST00000527590.5:n.129C>G (THY1) | ||
| ENST00000528295.5:c.98C>G (THY1) | ENSP00000432051.1:p.Ser33Cys | |
| ENST00000528522.5:c.106C>G (THY1) | ENSP00000431301.1:p.Leu36Val | |
| ENST00000532974.1:n.279C>G (THY1) | ||
| ENST00000580275.5:c.55C>G (THY1) | ENSP00000464248.1:p.Leu19Val | |
| ENST00000584021.1:n.929C>G (THY1) | ||
| NM_001311160.1:c.106C>G (THY1) | NP_001298089.1:p.Leu36Val | |
| NM_001311162.1:c.106C>G (THY1) | NP_001298091.1:p.Leu36Val | |
| NM_006288.3:c.106C>G (THY1) | NP_006279.2:p.Leu36Val | |
| NM_006288.4:c.106C>G (THY1) | NP_006279.2:p.Leu36Val | |
| NR_034160.1:n.305+25164G>C (USP2-AS1) | ||
| NM_001311160.2:c.106C>G (THY1) | NP_001298089.1:p.Leu36Val | |
| NM_001311162.2:c.106C>G (THY1) | NP_001298091.1:p.Leu36Val | |
| NM_001372050.1:c.55C>G (THY1) | NP_001358979.1:p.Leu19Val | |
| NM_006288.5:c.106C>G (THY1) MANE Select | NP_006279.2:p.Leu36Val | |
| NR_164077.1:n.169C>G (THY1) |