Revel Score:
ENST00000261584 (MANE Select)
0.466
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23608005A>G , CM000678.2:g.23608005A>G | GRCh38 |
| NC_000016.9:g.23619326A>G , CM000678.1:g.23619326A>G | GRCh37 |
| NC_000016.8:g.23526827A>G | NCBI36 |
| NG_007406.1:g.38353T>C , LRG_308:g.38353T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3215T>C | ENSP00000460666.3:p.Leu1072Pro | |
| ENST00000565038.2:c.*690T>C | ENSP00000459882.2:n.*690T>C | |
| ENST00000566069.6:c.3202-4336T>C | ENSP00000459237.2:n.3202-4336T>C | |
| ENST00000697377.2:c.3053T>C | ENSP00000513286.2:p.Leu1018Pro | |
| ENST00000697379.2:c.3215T>C | ENSP00000513287.2:p.Leu1072Pro | |
| ENST00000561514.2:c.2324T>C | ENSP00000460666.2:p.Leu775Pro | |
| ENST00000697374.1:c.2324T>C | ENSP00000513284.1:p.Leu775Pro | |
| ENST00000697375.1:n.4556T>C | ||
| ENST00000697376.1:c.2317-4336T>C | ENSP00000513285.1:n.2317-4336T>C | |
| ENST00000697377.1:c.2162T>C | ENSP00000513286.1:p.Leu721Pro | |
| ENST00000697378.1:n.3729T>C | ||
| ENST00000697379.1:c.2324T>C | ENSP00000513287.1:p.Leu775Pro | |
| ENST00000697380.1:n.2413T>C | ||
| ENST00000697381.1:n.1904T>C | ||
| ENST00000697382.1:c.2236T>C | ENSP00000513288.1:p.Ser746Pro | |
| ENST00000697383.1:c.743T>C | ENSP00000513289.1:p.Leu248Pro | |
| ENST00000261584.9:c.3209T>C MANE Select | ENSP00000261584.4:p.Leu1070Pro | |
| ENST00000261584.8:c.3209T>C | ENSP00000261584.4:p.Leu1070Pro | |
| ENST00000566069.5:c.117-4336T>C | ||
| ENST00000568219.5:c.2324T>C | ENSP00000454703.2:p.Leu775Pro | |
| NM_024675.3:c.3209T>C , LRG_308t1:c.3209T>C | NP_078951.2:p.Leu1070Pro | |
| XM_011545946.1:c.3215T>C | XP_011544248.1:p.Leu1072Pro | |
| XM_011545947.1:c.3208-4336T>C | XP_011544249.1:n.3208-4336T>C | |
| XM_011545948.1:c.2324T>C | XP_011544250.1:p.Leu775Pro | |
| XR_950851.1:n.3917T>C | ||
| XM_011545946.2:c.3215T>C | XP_011544248.1:p.Leu1072Pro | |
| XM_011545947.2:c.3208-4336T>C | XP_011544249.1:n.3208-4336T>C | |
| XM_011545948.2:c.2324T>C | XP_011544250.1:p.Leu775Pro | |
| XM_017023671.1:c.3120-4336T>C | XP_016879160.1:n.3120-4336T>C | |
| XM_017023672.2:c.3114-4336T>C | XP_016879161.1:n.3114-4336T>C | |
| XM_017023673.2:c.3202-4336T>C | XP_016879162.1:n.3202-4336T>C | |
| NM_024675.4:c.3209T>C MANE Select | NP_078951.2:p.Leu1070Pro |