Linked Data
ClinVar Variation Id:
21298
dbSNP Id:
rs80356492
ExAC:
11:118895925 C / T
gnomAD v2:
11-118895925-C-T
gnomAD v3:
11-119025215-C-T
gnomAD v4:
11-119025215-C-T
COSMIC:
COSM5050577
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025215C>T , CM000673.2:g.119025215C>T | GRCh38 |
| NC_000011.9:g.118895925C>T , CM000673.1:g.118895925C>T | GRCh37 |
| NC_000011.8:g.118401135C>T | NCBI36 |
| NG_013331.1:g.10691G>A , LRG_187:g.10691G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1309G>A (SLC37A4) | ||
| ENST00000697845.1:n.2298G>A (SLC37A4) | ||
| ENST00000697846.1:n.1671G>A (SLC37A4) | ||
| ENST00000697847.1:n.1382G>A (SLC37A4) | ||
| ENST00000697849.1:n.3775G>A (SLC37A4) | ||
| ENST00000697850.1:n.1966G>A (SLC37A4) | ||
| ENST00000697851.1:n.2937G>A (SLC37A4) | ||
| ENST00000638186.1:n.1403G>A (SLC37A4) | ||
| ENST00000638360.1:n.1235G>A (SLC37A4) | ||
| ENST00000638925.1:n.1368G>A (SLC37A4) | ||
| ENST00000650539.1:n.1571G>A (SLC37A4) | ||
| ENST00000330775.9:c.1099G>A (SLC37A4) | ENSP00000476242.2:p.Ala367Thr | |
| ENST00000357590.9:c.1165G>A (SLC37A4) | ENSP00000476176.2:p.Ala389Thr | |
| ENST00000524428.5:n.1335G>A (SLC37A4) | ||
| ENST00000525039.5:n.1589G>A (SLC37A4) | ||
| ENST00000525102.5:n.1857G>A (SLC37A4) | ||
| ENST00000525372.5:n.1197G>A (SLC37A4) | ||
| ENST00000526275.5:n.1881G>A (SLC37A4) | ||
| ENST00000527992.5:n.1327G>A (SLC37A4) | ||
| ENST00000529510.5:n.787G>A (SLC37A4) | ||
| ENST00000530407.5:n.1249G>A (SLC37A4) | ||
| ENST00000532085.1:n.5117G>A (SLC37A4) | ||
| ENST00000533058.5:c.*166C>T (TRAPPC4) | ENSP00000432920.1:n.*166C>T | |
| ENST00000538950.5:c.880G>A (SLC37A4) | ENSP00000475991.2:p.Ala294Thr | |
| ENST00000545985.5:c.1099G>A (SLC37A4) | ENSP00000475241.2:p.Ala367Thr | |
| NM_001164277.1:c.1099G>A , LRG_187t1:c.1099G>A (SLC37A4) | NP_001157749.1:p.Ala367Thr | |
| NM_001164278.1:c.1165G>A (SLC37A4) | NP_001157750.1:p.Ala389Thr | |
| NM_001164279.1:c.880G>A (SLC37A4) | NP_001157751.1:p.Ala294Thr | |
| NM_001164280.1:c.1099G>A (SLC37A4) | NP_001157752.1:p.Ala367Thr | |
| NM_001467.5:c.1099G>A (SLC37A4) | NP_001458.1:p.Ala367Thr | |
| NM_001164278.2:c.1165G>A (SLC37A4) | NP_001157750.1:p.Ala389Thr | |
| NM_001164279.2:c.880G>A (SLC37A4) | NP_001157751.1:p.Ala294Thr | |
| NM_001164280.2:c.1099G>A (SLC37A4) | NP_001157752.1:p.Ala367Thr | |
| NM_001467.6:c.1099G>A (SLC37A4) | NP_001458.1:p.Ala367Thr | |
| NM_001164277.2:c.1099G>A (SLC37A4) MANE Select | NP_001157749.1:p.Ala367Thr |