Linked Data
ClinVar Variation Id:
56540
dbSNP Id:
rs386833976
gnomAD v2:
13-77570143-T-C
gnomAD v4:
13-76996008-T-C
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76996008T>C , CM000675.2:g.76996008T>C | GRCh38 |
| NC_000013.10:g.77570143T>C , CM000675.1:g.77570143T>C | GRCh37 |
| NC_000013.9:g.76468144T>C | NCBI36 |
| NG_009064.1:g.9085T>C , LRG_692:g.9085T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377453.9:c.446T>C (CLN5) MANE Select | ENSP00000366673.5:p.Leu149Pro | |
| ENST00000485938.4:c.446T>C (CLN5) | ENSP00000482959.3:p.Leu149Pro | |
| ENST00000616833.6:c.446T>C (CLN5) | ENSP00000479547.3:p.Leu149Pro | |
| ENST00000635838.1:c.55T>C | ||
| ENST00000635905.1:n.447T>C (CLN5) | ||
| ENST00000635915.1:c.444T>C (CLN5) | ||
| ENST00000635989.1:n.513T>C (CLN5) | ||
| ENST00000636183.2:c.446T>C (CLN5) | ENSP00000490181.2:p.Leu149Pro | |
| ENST00000636520.1:n.1958T>C (CLN5) | ||
| ENST00000636525.2:c.446T>C (CLN5) | ENSP00000490078.2:p.Leu149Pro | |
| ENST00000636602.1:n.392T>C (CLN5) | ||
| ENST00000636681.1:c.*137T>C (CLN5) | ENSP00000489922.1:n.*137T>C | |
| ENST00000636705.1:c.282T>C (CLN5) | ||
| ENST00000636767.2:c.446T>C (CLN5) | ENSP00000489855.2:p.Leu149Pro | |
| ENST00000636780.2:c.446T>C (CLN5) | ENSP00000489809.2:p.Leu149Pro | |
| ENST00000637192.1:c.94T>C | ||
| ENST00000637278.1:n.772T>C (CLN5) | ||
| ENST00000637397.2:c.446T>C (CLN5) | ENSP00000490422.2:p.Leu149Pro | |
| ENST00000637537.2:c.446T>C (CLN5) | ENSP00000489711.2:p.Leu149Pro | |
| ENST00000638101.1:c.50T>C | ENSP00000490535.1:p.Leu17Pro | |
| ENST00000638147.2:c.446T>C | ENSP00000490953.2:p.Leu149Pro | |
| ENST00000377453.7:c.593T>C (CLN5) | ENSP00000366673.3:p.Leu198Pro | |
| ENST00000485797.2:n.174-3057A>G (FBXL3) | ||
| ENST00000485938.2:c.429T>C (CLN5) | ||
| ENST00000616833.4:c.446T>C (CLN5) | ENSP00000479547.1:p.Leu149Pro | |
| NM_006493.2:c.593T>C , LRG_692t1:c.593T>C (CLN5) | NP_006484.1:p.Leu198Pro | |
| XM_011534917.1:c.593T>C (CLN5) | XP_011533219.1:p.Leu198Pro | |
| NM_001366624.1:c.446T>C (CLN5) | NP_001353553.1:p.Leu149Pro | |
| NM_006493.3:c.446T>C (CLN5) | NP_006484.2:p.Leu149Pro | |
| XM_017020538.2:c.644-3057A>G (FBXL3) | XP_016876027.1:n.644-3057A>G | |
| NM_001366624.2:c.446T>C (CLN5) | NP_001353553.1:p.Leu149Pro | |
| NM_006493.4:c.446T>C (CLN5) MANE Select | NP_006484.2:p.Leu149Pro |