Linked Data
ClinVar Variation Id:
13637
ClinVar RCV Id:
RCV000014607
RCV000022712
RCV000151666
RCV000157419
RCV000157420
RCV000171826
RCV000523391
RCV000621703
RCV000770226
RCV002467493
RCV003389232
dbSNP Id:
rs111033560
ExAC:
6:118880200 T / G
gnomAD v2:
6-118880200-T-G
gnomAD v3:
6-118559037-T-G
gnomAD v4:
6-118559037-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.118559037T>G , CM000668.2:g.118559037T>G | GRCh38 |
| NC_000006.11:g.118880200T>G , CM000668.1:g.118880200T>G | GRCh37 |
| NC_000006.10:g.118986893T>G | NCBI36 |
| NG_009082.1:g.15759T>G , LRG_390:g.15759T>G | |
| NG_021248.1:g.156039A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357525.6:c.116T>G (PLN) MANE Select | ENSP00000350132.5:p.Leu39Ter | |
| ENST00000368491.8:c.1020+6492A>C (CEP85L) MANE Select | ENSP00000357477.3:n.1020+6492A>C | |
| ENST00000357525.5:c.116T>G (PLN) | ENSP00000350132.5:p.Leu39Ter | |
| ENST00000360290.7:c.714+6492A>C (CEP85L) | ENSP00000353434.3:n.714+6492A>C | |
| ENST00000368488.9:c.1029+6492A>C (CEP85L) | ENSP00000357474.5:n.1029+6492A>C | |
| ENST00000368491.7:c.1020+6492A>C (CEP85L) | ENSP00000357477.3:n.1020+6492A>C | |
| ENST00000392500.7:c.1029+6492A>C (CEP85L) | ENSP00000376288.3:n.1029+6492A>C | |
| ENST00000419517.2:c.1020+6492A>C (CEP85L) | ENSP00000393317.2:n.1020+6492A>C | |
| ENST00000434604.5:c.1029+6492A>C (CEP85L) | ENSP00000392131.1:n.1029+6492A>C | |
| NM_001042475.2:c.1020+6492A>C (CEP85L) | NP_001035940.1:n.1020+6492A>C | |
| NM_001178035.1:c.1029+6492A>C (CEP85L) | NP_001171506.1:n.1029+6492A>C | |
| NM_002667.3:c.116T>G , LRG_390t1:c.116T>G (PLN) | NP_002658.1:p.Leu39Ter | |
| NM_206921.2:c.1020+6492A>C (CEP85L) | NP_996804.2:n.1020+6492A>C | |
| XM_005266970.1:c.714+6492A>C (CEP85L) | XP_005267027.1:n.714+6492A>C | |
| XM_005266971.1:c.714+6492A>C (CEP85L) | XP_005267028.1:n.714+6492A>C | |
| XM_006715475.2:c.714+6492A>C (CEP85L) | XP_006715538.1:n.714+6492A>C | |
| XM_011535808.1:c.1029+6492A>C (CEP85L) | XP_011534110.1:n.1029+6492A>C | |
| XM_011535809.1:c.1020+6492A>C (CEP85L) | XP_011534111.1:n.1020+6492A>C | |
| XM_011535810.1:c.1029+6492A>C (CEP85L) | XP_011534112.1:n.1029+6492A>C | |
| XM_011535811.1:c.714+6492A>C (CEP85L) | XP_011534113.1:n.714+6492A>C | |
| XM_011535812.1:c.-67+4899A>C (CEP85L) | XP_011534114.1:n.-67+4899A>C | |
| NM_002667.4:c.116T>G (PLN) | NP_002658.1:p.Leu39Ter | |
| XM_006715475.4:c.714+6492A>C (CEP85L) | XP_006715538.1:n.714+6492A>C | |
| XM_011535809.2:c.1020+6492A>C (CEP85L) | XP_011534111.1:n.1020+6492A>C | |
| XM_011535810.2:c.1029+6492A>C (CEP85L) | XP_011534112.1:n.1029+6492A>C | |
| XM_017010846.1:c.1029+6492A>C (CEP85L) | XP_016866335.1:n.1029+6492A>C | |
| XM_024446429.1:c.1020+6492A>C (CEP85L) | XP_024302197.1:n.1020+6492A>C | |
| XM_024446430.1:c.1020+6492A>C (CEP85L) | XP_024302198.1:n.1020+6492A>C | |
| NM_001042475.3:c.1020+6492A>C (CEP85L) MANE Select | NP_001035940.1:n.1020+6492A>C | |
| NM_002667.5:c.116T>G (PLN) MANE Select | NP_002658.1:p.Leu39Ter | |
| NM_206921.3:c.1020+6492A>C (CEP85L) | NP_996804.2:n.1020+6492A>C | |
| NM_001178035.2:c.1029+6492A>C (CEP85L) | NP_001171506.1:n.1029+6492A>C |