ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
creatine transporter deficiency
Revel Score:
ENST00000253122 (MANE Select)
0.751
ENST00000430077
0.751
ENST00000328897
0.751
ENST00000413787
0.751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694424C>G , CM000685.2:g.153694424C>G | GRCh38 |
| NC_000023.10:g.152959879C>G , CM000685.1:g.152959879C>G | GRCh37 |
| NC_000023.9:g.152613073C>G | NCBI36 |
| NG_012016.1:g.11128C>G | |
| NG_012016.2:g.11128C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1473C>G MANE Select | ENSP00000253122.5:p.Cys491Trp | |
| ENST00000253122.9:c.1473C>G | ENSP00000253122.5:p.Cys491Trp | |
| ENST00000413787.1:c.402C>G | ENSP00000400463.1:p.Cys134Trp | |
| ENST00000430077.6:c.1128C>G | ENSP00000403041.2:p.Cys376Trp | |
| ENST00000485324.1:n.1694C>G | ||
| NM_001142805.1:c.1443C>G | NP_001136277.1:p.Cys481Trp | |
| NM_001142806.1:c.1128C>G | NP_001136278.1:p.Cys376Trp | |
| NM_005629.3:c.1473C>G | NP_005620.1:p.Cys491Trp | |
| NM_005629.4:c.1473C>G MANE Select | NP_005620.1:p.Cys491Trp | |
| NM_001142805.2:c.1443C>G | NP_001136277.1:p.Cys481Trp |