Linked Data
ClinVar Variation Id:
2569
dbSNP Id:
rs267606738
gnomAD v4:
13-76995119-G-A
PubMed:
PMID:20157158
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76995119G>A , CM000675.2:g.76995119G>A | GRCh38 |
| NC_000013.10:g.77569254G>A , CM000675.1:g.77569254G>A | GRCh37 |
| NC_000013.9:g.76467255G>A | NCBI36 |
| NG_009064.1:g.8196G>A , LRG_692:g.8196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.230G>A (CLN5) MANE Select | ENSP00000366673.5:p.Cys77Tyr | |
| ENST00000485938.4:c.230G>A (CLN5) | ENSP00000482959.3:p.Cys77Tyr | |
| ENST00000616833.6:c.230G>A (CLN5) | ENSP00000479547.3:p.Cys77Tyr | |
| ENST00000635905.1:n.231G>A (CLN5) | ||
| ENST00000635915.1:c.169G>A (CLN5) | ||
| ENST00000635989.1:n.240G>A (CLN5) | ||
| ENST00000636183.2:c.230G>A (CLN5) | ENSP00000490181.2:p.Cys77Tyr | |
| ENST00000636520.1:n.1069G>A (CLN5) | ||
| ENST00000636525.2:c.230G>A (CLN5) | ENSP00000490078.2:p.Cys77Tyr | |
| ENST00000636681.1:c.-26G>A (CLN5) | ENSP00000489922.1:n.-26G>A | |
| ENST00000636705.1:c.66G>A (CLN5) | ||
| ENST00000636767.2:c.230G>A (CLN5) | ENSP00000489855.2:p.Cys77Tyr | |
| ENST00000636780.2:c.230G>A (CLN5) | ENSP00000489809.2:p.Cys77Tyr | |
| ENST00000637397.2:c.230G>A (CLN5) | ENSP00000490422.2:p.Cys77Tyr | |
| ENST00000637537.2:c.230G>A (CLN5) | ENSP00000489711.2:p.Cys77Tyr | |
| ENST00000638147.2:c.230G>A | ENSP00000490953.2:p.Cys77Tyr | |
| ENST00000377453.7:c.377G>A (CLN5) | ENSP00000366673.3:p.Cys126Tyr | |
| ENST00000485797.2:n.174-2168C>T (FBXL3) | ||
| ENST00000485938.2:c.213G>A (CLN5) | ||
| ENST00000616833.4:c.230G>A (CLN5) | ENSP00000479547.1:p.Cys77Tyr | |
| NM_006493.2:c.377G>A , LRG_692t1:c.377G>A (CLN5) | NP_006484.1:p.Cys126Tyr | |
| XM_011534917.1:c.377G>A (CLN5) | XP_011533219.1:p.Cys126Tyr | |
| NM_001366624.1:c.230G>A (CLN5) | NP_001353553.1:p.Cys77Tyr | |
| NM_006493.3:c.230G>A (CLN5) | NP_006484.2:p.Cys77Tyr | |
| XM_017020538.2:c.644-2168C>T (FBXL3) | XP_016876027.1:n.644-2168C>T | |
| NM_001366624.2:c.230G>A (CLN5) | NP_001353553.1:p.Cys77Tyr | |
| NM_006493.4:c.230G>A (CLN5) MANE Select | NP_006484.2:p.Cys77Tyr |