Revel Score:
ENST00000259938 (MANE Select)
0.187
ENST00000541088
0.187
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10083284 (AFR)
Genomes Max Group AF
0.10225945 (AFR)
Exomes Max Group AF
0.09721841 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35797266A>G , CM000668.2:g.35797266A>G | GRCh38 |
| NC_000006.11:g.35765043A>G , CM000668.1:g.35765043A>G | GRCh37 |
| NC_000006.10:g.35873021A>G | NCBI36 |
| NG_012184.3:g.5061A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259938.7:c.23T>C (CLPS) MANE Select | ENSP00000259938.2:p.Leu8Pro | |
| ENST00000651132.1:c.-346A>G (LHFPL5) | ENSP00000498322.1:n.-346A>G | |
| ENST00000259938.6:c.23T>C (CLPS) | ENSP00000259938.2:p.Leu8Pro | |
| ENST00000616014.3:c.23T>C (CLPS) | ENSP00000483589.1:p.Leu8Pro | |
| NM_001252597.1:c.-118T>C (CLPS) | NP_001239526.1:n.-118T>C | |
| NM_001252598.1:c.23T>C (CLPS) | NP_001239527.1:p.Leu8Pro | |
| NM_001832.3:c.23T>C (CLPS) | NP_001823.1:p.Leu8Pro | |
| NM_001252597.2:c.-118T>C (CLPS) | NP_001239526.1:n.-118T>C | |
| NM_001832.4:c.23T>C (CLPS) MANE Select | NP_001823.1:p.Leu8Pro | |
| NM_001252598.2:c.23T>C (CLPS) | NP_001239527.1:p.Leu8Pro |