Revel Score:
ENST00000327047 (MANE Select)
0.342
ENST00000328863
0.342
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972696G>T , CM000665.2:g.150972696G>T | GRCh38 |
| NC_000003.11:g.150690483G>T , CM000665.1:g.150690483G>T | GRCh37 |
| NC_000003.10:g.152173173G>T | NCBI36 |
| NG_009168.1:g.5304C>A , LRG_700:g.5304C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.13C>A (CLRN1) MANE Select | ENSP00000322280.1:p.Gln5Lys | |
| ENST00000327047.5:c.13C>A (CLRN1) | ENSP00000322280.1:p.Gln5Lys | |
| ENST00000328863.8:c.13C>A (CLRN1) | ENSP00000329158.4:p.Gln5Lys | |
| ENST00000472224.1:n.19C>A (CLRN1) | ||
| NM_001195794.1:c.13C>A , LRG_700t1:c.13C>A (CLRN1) | NP_001182723.1:p.Gln5Lys | |
| NM_001256819.1:c.13C>A (CLRN1) | NP_001243748.1:p.Gln5Lys | |
| NM_174878.2:c.13C>A (CLRN1) | NP_777367.1:p.Gln5Lys | |
| NR_024066.1:n.19G>T (CLRN1-AS1) | ||
| NR_046380.2:n.304C>A (CLRN1) | ||
| XR_924167.1:n.325C>A (CLRN1) | ||
| NR_024066.2:n.19G>T (CLRN1-AS1) | ||
| NM_001256819.2:c.13C>A (CLRN1) | NP_001243748.1:p.Gln5Lys | |
| NM_174878.3:c.13C>A (CLRN1) MANE Select | NP_777367.1:p.Gln5Lys | |
| NR_046380.3:n.32C>A (CLRN1) |