Linked Data
ClinVar Variation Id:
56534
ClinVar RCV Id:
RCV001058589
dbSNP Id:
rs386833971
ExAC:
13:77569310 C / T
gnomAD v2:
13-77569310-C-T
gnomAD v3:
13-76995175-C-T
gnomAD v4:
13-76995175-C-T
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76995175C>T , CM000675.2:g.76995175C>T | GRCh38 |
| NC_000013.10:g.77569310C>T , CM000675.1:g.77569310C>T | GRCh37 |
| NC_000013.9:g.76467311C>T | NCBI36 |
| NG_009064.1:g.8252C>T , LRG_692:g.8252C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377453.9:c.286C>T (CLN5) MANE Select | ENSP00000366673.5:p.Arg96Ter | |
| ENST00000485938.4:c.286C>T (CLN5) | ENSP00000482959.3:p.Arg96Ter | |
| ENST00000616833.6:c.286C>T (CLN5) | ENSP00000479547.3:p.Arg96Ter | |
| ENST00000635905.1:n.287C>T (CLN5) | ||
| ENST00000635915.1:c.225C>T (CLN5) | ||
| ENST00000635989.1:n.296C>T (CLN5) | ||
| ENST00000636183.2:c.286C>T (CLN5) | ENSP00000490181.2:p.Arg96Ter | |
| ENST00000636520.1:n.1125C>T (CLN5) | ||
| ENST00000636525.2:c.286C>T (CLN5) | ENSP00000490078.2:p.Arg96Ter | |
| ENST00000636681.1:c.31C>T (CLN5) | ENSP00000489922.1:p.Arg11Ter | |
| ENST00000636705.1:c.122C>T (CLN5) | ||
| ENST00000636767.2:c.286C>T (CLN5) | ENSP00000489855.2:p.Arg96Ter | |
| ENST00000636780.2:c.286C>T (CLN5) | ENSP00000489809.2:p.Arg96Ter | |
| ENST00000637397.2:c.286C>T (CLN5) | ENSP00000490422.2:p.Arg96Ter | |
| ENST00000637537.2:c.286C>T (CLN5) | ENSP00000489711.2:p.Arg96Ter | |
| ENST00000638147.2:c.286C>T | ENSP00000490953.2:p.Arg96Ter | |
| ENST00000377453.7:c.433C>T (CLN5) | ENSP00000366673.3:p.Arg145Ter | |
| ENST00000485797.2:n.174-2224G>A (FBXL3) | ||
| ENST00000485938.2:c.269C>T (CLN5) | ||
| ENST00000616833.4:c.286C>T (CLN5) | ENSP00000479547.1:p.Arg96Ter | |
| NM_006493.2:c.433C>T , LRG_692t1:c.433C>T (CLN5) | NP_006484.1:p.Arg145Ter | |
| XM_011534917.1:c.433C>T (CLN5) | XP_011533219.1:p.Arg145Ter | |
| NM_001366624.1:c.286C>T (CLN5) | NP_001353553.1:p.Arg96Ter | |
| NM_006493.3:c.286C>T (CLN5) | NP_006484.2:p.Arg96Ter | |
| XM_017020538.2:c.644-2224G>A (FBXL3) | XP_016876027.1:n.644-2224G>A | |
| NM_001366624.2:c.286C>T (CLN5) | NP_001353553.1:p.Arg96Ter | |
| NM_006493.4:c.286C>T (CLN5) MANE Select | NP_006484.2:p.Arg96Ter |