Revel Score:
ENST00000261921 (MANE Select)
0.056
ENST00000395162
0.056
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73927205G>A , CM000677.2:g.73927205G>A | GRCh38 |
| NC_000015.9:g.74219546G>A , CM000677.1:g.74219546G>A | GRCh37 |
| NC_000015.8:g.72006599G>A | NCBI36 |
| NG_011466.1:g.5758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261921.8:c.422G>A (LOXL1) MANE Select | ENSP00000261921.7:p.Arg141Gln | |
| ENST00000261921.7:c.422G>A (LOXL1) | ENSP00000261921.7:p.Arg141Gln | |
| ENST00000566011.5:c.422G>A (LOXL1) | ENSP00000457827.1:p.Arg141Gln | |
| NM_005576.2:c.422G>A (LOXL1) | NP_005567.2:p.Arg141Gln | |
| NR_040066.1:n.133+449C>T (LOXL1-AS1) | ||
| NR_040067.1:n.133+449C>T (LOXL1-AS1) | ||
| NR_040068.1:n.184+860C>T (LOXL1-AS1) | ||
| NR_040069.1:n.184+860C>T (LOXL1-AS1) | ||
| NR_040070.1:n.184+572C>T (LOXL1-AS1) | ||
| XM_011521555.1:c.422G>A (LOXL1) | XP_011519857.1:p.Arg141Gln | |
| XR_931824.1:n.755G>A (LOXL1) | ||
| NM_005576.3:c.422G>A (LOXL1) | NP_005567.2:p.Arg141Gln | |
| XM_011521555.2:c.422G>A (LOXL1) | XP_011519857.1:p.Arg141Gln | |
| XR_931824.2:n.744G>A (LOXL1) | ||
| NM_005576.4:c.422G>A (LOXL1) MANE Select | NP_005567.2:p.Arg141Gln |