COSMIC:
COSM5461570 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21359186 (EAS)
Genomes Max Group AF
0.22895977 (EAS)
Exomes Max Group AF
0.20919684 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73927743G>T , CM000677.2:g.73927743G>T | GRCh38 |
| NC_000015.9:g.74220084G>T , CM000677.1:g.74220084G>T | GRCh37 |
| NC_000015.8:g.72007137G>T | NCBI36 |
| NG_011466.1:g.6296G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261921.8:c.960G>T (LOXL1) MANE Select | ENSP00000261921.7:p.Ala320= | |
| ENST00000261921.7:c.960G>T (LOXL1) | ENSP00000261921.7:p.Ala320= | |
| ENST00000566011.5:c.960G>T (LOXL1) | ENSP00000457827.1:p.Ala320= | |
| NM_005576.2:c.960G>T (LOXL1) | NP_005567.2:p.Ala320= | |
| NR_040066.1:n.44C>A (LOXL1-AS1) | ||
| NR_040067.1:n.44C>A (LOXL1-AS1) | ||
| NR_040068.1:n.184+322C>A (LOXL1-AS1) | ||
| NR_040069.1:n.184+322C>A (LOXL1-AS1) | ||
| NR_040070.1:n.184+34C>A (LOXL1-AS1) | ||
| XM_011521555.1:c.960G>T (LOXL1) | XP_011519857.1:p.Ala320= | |
| XR_931824.1:n.1293G>T (LOXL1) | ||
| NM_005576.3:c.960G>T (LOXL1) | NP_005567.2:p.Ala320= | |
| XM_011521555.2:c.960G>T (LOXL1) | XP_011519857.1:p.Ala320= | |
| XR_931824.2:n.1282G>T (LOXL1) | ||
| NM_005576.4:c.960G>T (LOXL1) MANE Select | NP_005567.2:p.Ala320= |