Revel Score:
ENST00000533058
0.111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119024957G>C , CM000673.2:g.119024957G>C | GRCh38 |
| NC_000011.9:g.118895667G>C , CM000673.1:g.118895667G>C | GRCh37 |
| NC_000011.8:g.118400877G>C | NCBI36 |
| NG_013331.1:g.10949C>G , LRG_187:g.10949C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1453C>G (SLC37A4) | ||
| ENST00000697845.1:n.2442C>G (SLC37A4) | ||
| ENST00000697846.1:n.1815C>G (SLC37A4) | ||
| ENST00000697847.1:n.1526C>G (SLC37A4) | ||
| ENST00000697849.1:n.3919C>G (SLC37A4) | ||
| ENST00000697850.1:n.2110C>G (SLC37A4) | ||
| ENST00000697851.1:n.3081C>G (SLC37A4) | ||
| ENST00000638186.1:n.1547C>G (SLC37A4) | ||
| ENST00000638360.1:n.1379C>G (SLC37A4) | ||
| ENST00000638925.1:n.1512C>G (SLC37A4) | ||
| ENST00000650539.1:n.1715C>G (SLC37A4) | ||
| ENST00000330775.9:c.1243C>G (SLC37A4) | ENSP00000476242.2:p.Arg415Gly | |
| ENST00000357590.9:c.1309C>G (SLC37A4) | ENSP00000476176.2:p.Arg437Gly | |
| ENST00000524428.5:n.1479C>G (SLC37A4) | ||
| ENST00000525039.5:n.1733C>G (SLC37A4) | ||
| ENST00000525102.5:n.2001C>G (SLC37A4) | ||
| ENST00000525372.5:n.1341C>G (SLC37A4) | ||
| ENST00000526275.5:n.2025C>G (SLC37A4) | ||
| ENST00000527992.5:n.1471C>G (SLC37A4) | ||
| ENST00000530407.5:n.1393C>G (SLC37A4) | ||
| ENST00000532085.1:n.5261C>G (SLC37A4) | ||
| ENST00000533058.5:c.682G>C (TRAPPC4) | ENSP00000432920.1:p.Val228Leu | |
| ENST00000538950.5:c.1024C>G (SLC37A4) | ENSP00000475991.2:p.Arg342Gly | |
| ENST00000545985.5:c.1243C>G (SLC37A4) | ENSP00000475241.2:p.Arg415Gly | |
| NM_001164277.1:c.1243C>G , LRG_187t1:c.1243C>G (SLC37A4) | NP_001157749.1:p.Arg415Gly | |
| NM_001164278.1:c.1309C>G (SLC37A4) | NP_001157750.1:p.Arg437Gly | |
| NM_001164279.1:c.1024C>G (SLC37A4) | NP_001157751.1:p.Arg342Gly | |
| NM_001164280.1:c.1243C>G (SLC37A4) | NP_001157752.1:p.Arg415Gly | |
| NM_001467.5:c.1243C>G (SLC37A4) | NP_001458.1:p.Arg415Gly | |
| NM_001164278.2:c.1309C>G (SLC37A4) | NP_001157750.1:p.Arg437Gly | |
| NM_001164279.2:c.1024C>G (SLC37A4) | NP_001157751.1:p.Arg342Gly | |
| NM_001164280.2:c.1243C>G (SLC37A4) | NP_001157752.1:p.Arg415Gly | |
| NM_001467.6:c.1243C>G (SLC37A4) | NP_001458.1:p.Arg415Gly | |
| NM_001164277.2:c.1243C>G (SLC37A4) MANE Select | NP_001157749.1:p.Arg415Gly |