Revel Score:
ENST00000369550 (MANE Select)
0.568
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154770804C>A , CM000685.2:g.154770804C>A | GRCh38 |
| NC_000023.10:g.153999079C>A , CM000685.1:g.153999079C>A | GRCh37 |
| NC_000023.9:g.153652273C>A | NCBI36 |
| NG_009780.1:g.13049C>A , LRG_55:g.13049C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.841C>A | ENSP00000400542.2:p.Leu281Ile | |
| ENST00000426673.6:c.*344C>A | ENSP00000407253.3:n.*344C>A | |
| ENST00000484317.6:n.746C>A | ||
| ENST00000696575.1:c.961C>A | ENSP00000512730.1:p.Leu321Ile | |
| ENST00000696577.1:c.961C>A | ENSP00000512731.1:p.Leu321Ile | |
| ENST00000696578.1:c.915+1494C>A | ENSP00000512732.1:n.915+1494C>A | |
| ENST00000696579.1:n.1063C>A | ||
| ENST00000696580.1:c.874C>A | ENSP00000512733.1:p.Leu292Ile | |
| ENST00000696581.1:c.*935C>A | ENSP00000512734.1:n.*935C>A | |
| ENST00000696582.1:c.*167C>A | ENSP00000512735.1:n.*167C>A | |
| ENST00000696583.1:c.922C>A | ENSP00000512736.1:p.Leu308Ile | |
| ENST00000696584.1:n.1485C>A | ||
| ENST00000696585.1:n.1604C>A | ||
| ENST00000696586.1:n.1378C>A | ||
| ENST00000696587.1:c.841C>A | ENSP00000512737.1:p.Leu281Ile | |
| ENST00000696588.1:c.352C>A | ENSP00000513251.1:p.Leu118Ile | |
| ENST00000696589.1:n.736C>A | ||
| ENST00000696590.1:n.585C>A | ||
| ENST00000696591.1:n.310C>A | ||
| ENST00000696627.1:c.961C>A | ENSP00000512764.1:p.Leu321Ile | |
| ENST00000696628.1:c.961C>A | ENSP00000512765.1:p.Leu321Ile | |
| ENST00000369550.10:c.961C>A MANE Select | ENSP00000358563.5:p.Leu321Ile | |
| ENST00000369550.9:c.961C>A | ENSP00000358563.5:p.Leu321Ile | |
| ENST00000412124.5:c.219C>A | ||
| ENST00000426673.5:c.321C>A | ||
| ENST00000475966.1:n.450C>A | ||
| ENST00000484317.5:n.599C>A | ||
| ENST00000620277.4:c.961C>A | ENSP00000478387.1:p.Leu321Ile | |
| NM_001142463.2:c.961C>A | NP_001135935.1:p.Leu321Ile | |
| NM_001288747.1:c.961C>A | NP_001275676.1:p.Leu321Ile | |
| NM_001363.4:c.961C>A | NP_001354.1:p.Leu321Ile | |
| NR_110021.1:n.1662C>A | ||
| NR_110022.1:n.1781C>A | ||
| NR_110023.1:n.1555C>A | ||
| NM_001363.5:c.961C>A MANE Select | NP_001354.1:p.Leu321Ile | |
| NM_001142463.3:c.961C>A | NP_001135935.1:p.Leu321Ile | |
| NR_110021.2:n.1540C>A | ||
| NR_110022.2:n.1659C>A | ||
| NR_110023.2:n.1433C>A | ||
| NM_001288747.2:c.961C>A | NP_001275676.1:p.Leu321Ile |