Revel Score:
ENST00000262352 (MANE Select)
0.442
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011258 (NFE)
Genomes Max Group AF
0.00014677 (NFE)
Exomes Max Group AF
0.00010581 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4561527T>C , CM000671.2:g.4561527T>C | GRCh38 |
| NC_000009.11:g.4561527T>C , CM000671.1:g.4561527T>C | GRCh37 |
| NC_000009.10:g.4551527T>C | NCBI36 |
| NG_017044.1:g.76101T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.311T>C (SLC1A1) MANE Select | ENSP00000262352.3:p.Ile104Thr | |
| ENST00000262352.7:c.311T>C (SLC1A1) | ENSP00000262352.3:p.Ile104Thr | |
| ENST00000485616.5:c.*782-7139A>G (SPATA6L) | ENSP00000420003.1:n.*782-7139A>G | |
| ENST00000490167.1:n.355T>C (SLC1A1) | ||
| NM_004170.5:c.311T>C (SLC1A1) | NP_004161.4:p.Ile104Thr | |
| XM_011518007.1:c.380T>C (SLC1A1) | XP_011516309.1:p.Ile127Thr | |
| XM_011518008.1:c.320T>C (SLC1A1) | XP_011516310.1:p.Ile107Thr | |
| XM_011518009.1:c.251T>C (SLC1A1) | XP_011516311.1:p.Ile84Thr | |
| XM_011518010.1:c.170T>C (SLC1A1) | XP_011516312.1:p.Ile57Thr | |
| XM_011518008.3:c.320T>C (SLC1A1) | XP_011516310.1:p.Ile107Thr | |
| XM_011518009.3:c.251T>C (SLC1A1) | XP_011516311.1:p.Ile84Thr | |
| XM_017014882.2:c.*2-20337A>G (SPATA6L) | XP_016870371.1:n.*2-20337A>G | |
| XM_017015042.1:c.380T>C (SLC1A1) | XP_016870531.1:p.Ile127Thr | |
| XM_017015043.1:c.311T>C (SLC1A1) | XP_016870532.1:p.Ile104Thr | |
| XR_001746335.2:n.1479-20337A>G (SPATA6L) | ||
| NM_004170.6:c.311T>C (SLC1A1) MANE Select | NP_004161.4:p.Ile104Thr |