ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.869
ENST00000307000
0.869
ENST00000551337
0.869
ENST00000546844
0.869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894891C>T , CM000674.2:g.102894891C>T | GRCh38 |
| NC_000012.11:g.103288669C>T , CM000674.1:g.103288669C>T | GRCh37 |
| NC_000012.10:g.101812799C>T | NCBI36 |
| NG_008690.1:g.27712G>A | |
| NG_008690.2:g.68520G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.196G>A MANE Select | ENSP00000448059.1:p.Glu66Lys | |
| ENST00000307000.7:c.181G>A | ENSP00000303500.2:p.Glu61Lys | |
| ENST00000546844.1:c.196G>A | ENSP00000446658.1:p.Glu66Lys | |
| ENST00000548677.2:n.283G>A | ||
| ENST00000548928.1:n.118G>A | ||
| ENST00000549111.5:n.292G>A | ||
| ENST00000550978.6:c.180G>A | ||
| ENST00000551337.5:c.196G>A | ENSP00000447620.1:p.Glu66Lys | |
| ENST00000551988.5:n.285G>A | ||
| ENST00000553106.5:c.196G>A | ENSP00000448059.1:p.Glu66Lys | |
| ENST00000635500.1:n.164G>A | ||
| NM_000277.1:c.196G>A | NP_000268.1:p.Glu66Lys | |
| XM_011538422.1:c.196G>A | XP_011536724.1:p.Glu66Lys | |
| NM_000277.2:c.196G>A | NP_000268.1:p.Glu66Lys | |
| NM_001354304.1:c.196G>A | NP_001341233.1:p.Glu66Lys | |
| XM_017019370.2:c.196G>A | XP_016874859.1:p.Glu66Lys | |
| NM_000277.3:c.196G>A MANE Select | NP_000268.1:p.Glu66Lys | |
| NM_001354304.2:c.196G>A | NP_001341233.1:p.Glu66Lys |