ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
mucopolysaccharidosis type 1
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1004393A>T , CM000666.2:g.1004393A>T | GRCh38 |
| NC_000004.11:g.998181A>T , CM000666.1:g.998181A>T | GRCh37 |
| NC_000004.10:g.988181A>T | NCBI36 |
| NG_008103.1:g.22397A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1962A>T | ENSP00000247933.4:p.Ter654Cys | |
| ENST00000514224.2:c.1962A>T MANE Select | ENSP00000425081.2:p.Ter654Cys | |
| ENST00000652070.1:n.2018A>T | ||
| ENST00000247933.8:c.1962A>T | ENSP00000247933.4:p.Ter654Cys | |
| ENST00000514224.1:c.1566A>T | ENSP00000425081.1:p.Ter522Cys | |
| ENST00000514698.5:n.2073A>T | ||
| NM_000203.4:c.1962A>T | NP_000194.2:p.Ter654Cys | |
| NR_110313.1:n.2054A>T | ||
| XM_006713882.2:c.1566A>T | XP_006713945.1:p.Ter522Cys | |
| XM_011513459.1:c.2028A>T | XP_011511761.1:p.Ter676Cys | |
| XM_011513460.1:c.1821A>T | XP_011511762.1:p.Ter607Cys | |
| XM_011513461.1:c.1755A>T | XP_011511763.1:p.Ter585Cys | |
| XM_011513462.1:c.1674A>T | XP_011511764.1:p.Ter558Cys | |
| XM_011513463.1:c.1674A>T | XP_011511765.1:p.Ter558Cys | |
| XR_924947.1:n.2222A>T | ||
| NM_000203.5:c.1962A>T MANE Select | NP_000194.2:p.Ter654Cys | |
| NM_001363576.1:c.1566A>T | NP_001350505.1:p.Ter522Cys | |
| XM_011513461.2:c.1755A>T | XP_011511763.1:p.Ter585Cys | |
| XM_017008163.1:c.1002A>T | XP_016863652.1:p.Ter334Cys |