Linked Data
ClinVar Variation Id:
202184
dbSNP Id:
rs794729210
gnomAD v2:
6-118880215-T-C
gnomAD v4:
6-118559052-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.118559052T>C , CM000668.2:g.118559052T>C | GRCh38 |
| NC_000006.11:g.118880215T>C , CM000668.1:g.118880215T>C | GRCh37 |
| NC_000006.10:g.118986908T>C | NCBI36 |
| NG_009082.1:g.15774T>C , LRG_390:g.15774T>C | |
| NG_021248.1:g.156024A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357525.6:c.131T>C (PLN) MANE Select | ENSP00000350132.5:p.Leu44Pro | |
| ENST00000368491.8:c.1020+6477A>G (CEP85L) MANE Select | ENSP00000357477.3:n.1020+6477A>G | |
| ENST00000357525.5:c.131T>C (PLN) | ENSP00000350132.5:p.Leu44Pro | |
| ENST00000360290.7:c.714+6477A>G (CEP85L) | ENSP00000353434.3:n.714+6477A>G | |
| ENST00000368488.9:c.1029+6477A>G (CEP85L) | ENSP00000357474.5:n.1029+6477A>G | |
| ENST00000368491.7:c.1020+6477A>G (CEP85L) | ENSP00000357477.3:n.1020+6477A>G | |
| ENST00000392500.7:c.1029+6477A>G (CEP85L) | ENSP00000376288.3:n.1029+6477A>G | |
| ENST00000419517.2:c.1020+6477A>G (CEP85L) | ENSP00000393317.2:n.1020+6477A>G | |
| ENST00000434604.5:c.1029+6477A>G (CEP85L) | ENSP00000392131.1:n.1029+6477A>G | |
| NM_001042475.2:c.1020+6477A>G (CEP85L) | NP_001035940.1:n.1020+6477A>G | |
| NM_001178035.1:c.1029+6477A>G (CEP85L) | NP_001171506.1:n.1029+6477A>G | |
| NM_002667.3:c.131T>C , LRG_390t1:c.131T>C (PLN) | NP_002658.1:p.Leu44Pro | |
| NM_206921.2:c.1020+6477A>G (CEP85L) | NP_996804.2:n.1020+6477A>G | |
| XM_005266970.1:c.714+6477A>G (CEP85L) | XP_005267027.1:n.714+6477A>G | |
| XM_005266971.1:c.714+6477A>G (CEP85L) | XP_005267028.1:n.714+6477A>G | |
| XM_006715475.2:c.714+6477A>G (CEP85L) | XP_006715538.1:n.714+6477A>G | |
| XM_011535808.1:c.1029+6477A>G (CEP85L) | XP_011534110.1:n.1029+6477A>G | |
| XM_011535809.1:c.1020+6477A>G (CEP85L) | XP_011534111.1:n.1020+6477A>G | |
| XM_011535810.1:c.1029+6477A>G (CEP85L) | XP_011534112.1:n.1029+6477A>G | |
| XM_011535811.1:c.714+6477A>G (CEP85L) | XP_011534113.1:n.714+6477A>G | |
| XM_011535812.1:c.-67+4884A>G (CEP85L) | XP_011534114.1:n.-67+4884A>G | |
| NM_002667.4:c.131T>C (PLN) | NP_002658.1:p.Leu44Pro | |
| XM_006715475.4:c.714+6477A>G (CEP85L) | XP_006715538.1:n.714+6477A>G | |
| XM_011535809.2:c.1020+6477A>G (CEP85L) | XP_011534111.1:n.1020+6477A>G | |
| XM_011535810.2:c.1029+6477A>G (CEP85L) | XP_011534112.1:n.1029+6477A>G | |
| XM_017010846.1:c.1029+6477A>G (CEP85L) | XP_016866335.1:n.1029+6477A>G | |
| XM_024446429.1:c.1020+6477A>G (CEP85L) | XP_024302197.1:n.1020+6477A>G | |
| XM_024446430.1:c.1020+6477A>G (CEP85L) | XP_024302198.1:n.1020+6477A>G | |
| NM_001042475.3:c.1020+6477A>G (CEP85L) MANE Select | NP_001035940.1:n.1020+6477A>G | |
| NM_002667.5:c.131T>C (PLN) MANE Select | NP_002658.1:p.Leu44Pro | |
| NM_206921.3:c.1020+6477A>G (CEP85L) | NP_996804.2:n.1020+6477A>G | |
| NM_001178035.2:c.1029+6477A>G (CEP85L) | NP_001171506.1:n.1029+6477A>G |