ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
mucopolysaccharidosis type 1
Revel Score:
ENST00000247933
0.733
ENST00000453894
0.733
ENST00000514224 (MANE Select)
0.733
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022477 (NFE)
Genomes Max Group AF
0.00012409 (NFE)
Exomes Max Group AF
0.00022587 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1004292C>G , CM000666.2:g.1004292C>G | GRCh38 |
| NC_000004.11:g.998080C>G , CM000666.1:g.998080C>G | GRCh37 |
| NC_000004.10:g.988080C>G | NCBI36 |
| NG_008103.1:g.22296C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1861C>G | ENSP00000247933.4:p.Arg621Gly | |
| ENST00000514224.2:c.1861C>G MANE Select | ENSP00000425081.2:p.Arg621Gly | |
| ENST00000652070.1:n.1917C>G | ||
| ENST00000247933.8:c.1861C>G | ENSP00000247933.4:p.Arg621Gly | |
| ENST00000514224.1:c.1465C>G | ENSP00000425081.1:p.Arg489Gly | |
| ENST00000514698.5:n.1972C>G | ||
| NM_000203.4:c.1861C>G | NP_000194.2:p.Arg621Gly | |
| NR_110313.1:n.1953C>G | ||
| XM_006713882.2:c.1465C>G | XP_006713945.1:p.Arg489Gly | |
| XM_011513459.1:c.1927C>G | XP_011511761.1:p.Arg643Gly | |
| XM_011513460.1:c.1720C>G | XP_011511762.1:p.Arg574Gly | |
| XM_011513461.1:c.1654C>G | XP_011511763.1:p.Arg552Gly | |
| XM_011513462.1:c.1573C>G | XP_011511764.1:p.Arg525Gly | |
| XM_011513463.1:c.1573C>G | XP_011511765.1:p.Arg525Gly | |
| XR_924947.1:n.2121C>G | ||
| NM_000203.5:c.1861C>G MANE Select | NP_000194.2:p.Arg621Gly | |
| NM_001363576.1:c.1465C>G | NP_001350505.1:p.Arg489Gly | |
| XM_011513461.2:c.1654C>G | XP_011511763.1:p.Arg552Gly | |
| XM_017008163.1:c.901C>G | XP_016863652.1:p.Arg301Gly |