COSMIC:
COSN14790521 (not active)
COSN15315685 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3909664 (EAS)
Genomes Max Group AF
0.39480441 (EAS)
Exomes Max Group AF
0.38891653 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4576774G>A , CM000671.2:g.4576774G>A | GRCh38 |
| NC_000009.11:g.4576774G>A , CM000671.1:g.4576774G>A | GRCh37 |
| NC_000009.10:g.4566774G>A | NCBI36 |
| NG_017044.1:g.91348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.1193+11G>A (SLC1A1) MANE Select | ENSP00000262352.3:n.1193+11G>A | |
| ENST00000262352.7:c.1193+11G>A (SLC1A1) | ENSP00000262352.3:n.1193+11G>A | |
| ENST00000422398.1:c.480+11G>A (SLC1A1) | ||
| ENST00000485616.5:c.*782-22386C>T (SPATA6L) | ENSP00000420003.1:n.*782-22386C>T | |
| NM_004170.5:c.1193+11G>A (SLC1A1) | NP_004161.4:n.1193+11G>A | |
| XM_011518007.1:c.1262+11G>A (SLC1A1) | XP_011516309.1:n.1262+11G>A | |
| XM_011518008.1:c.1202+11G>A (SLC1A1) | XP_011516310.1:n.1202+11G>A | |
| XM_011518009.1:c.1133+11G>A (SLC1A1) | XP_011516311.1:n.1133+11G>A | |
| XM_011518010.1:c.1052+11G>A (SLC1A1) | XP_011516312.1:n.1052+11G>A | |
| XM_011518008.3:c.1202+11G>A (SLC1A1) | XP_011516310.1:n.1202+11G>A | |
| XM_011518009.3:c.1133+11G>A (SLC1A1) | XP_011516311.1:n.1133+11G>A | |
| XM_017014882.2:c.*1+27405C>T (SPATA6L) | XP_016870371.1:n.*1+27405C>T | |
| XM_017015042.1:c.1154+11G>A (SLC1A1) | XP_016870531.1:n.1154+11G>A | |
| XM_017015043.1:c.1085+11G>A (SLC1A1) | XP_016870532.1:n.1085+11G>A | |
| XR_001746335.2:n.1478+23879C>T (SPATA6L) | ||
| NM_004170.6:c.1193+11G>A (SLC1A1) MANE Select | NP_004161.4:n.1193+11G>A |