ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.820
ENST00000307000
0.820
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855251C>G , CM000674.2:g.102855251C>G | GRCh38 |
| NC_000012.11:g.103249029C>G , CM000674.1:g.103249029C>G | GRCh37 |
| NC_000012.10:g.101773159C>G | NCBI36 |
| NG_008690.1:g.67352G>C | |
| NG_008690.2:g.108160G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.591G>C MANE Select | ENSP00000448059.1:p.Leu197Phe | |
| ENST00000307000.7:c.576G>C | ENSP00000303500.2:p.Leu192Phe | |
| ENST00000549111.5:n.687G>C | ||
| ENST00000553106.5:c.591G>C | ENSP00000448059.1:p.Leu197Phe | |
| NM_000277.1:c.591G>C | NP_000268.1:p.Leu197Phe | |
| XM_011538422.1:c.591G>C | XP_011536724.1:p.Leu197Phe | |
| NM_000277.2:c.591G>C | NP_000268.1:p.Leu197Phe | |
| NM_001354304.1:c.591G>C | NP_001341233.1:p.Leu197Phe | |
| XM_017019370.2:c.591G>C | XP_016874859.1:p.Leu197Phe | |
| NM_000277.3:c.591G>C MANE Select | NP_000268.1:p.Leu197Phe | |
| NM_001354304.2:c.591G>C | NP_001341233.1:p.Leu197Phe |