Linked Data
ClinVar Variation Id:
65749
dbSNP Id:
rs281875211
ExAC:
17:26729294 C / T
gnomAD v2:
17-26729294-C-T
gnomAD v3:
17-28402276-C-T
gnomAD v4:
17-28402276-C-T
COSMIC:
COSM4421093
PubMed:
PMID:20301716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28402276C>T , CM000679.2:g.28402276C>T | GRCh38 |
| NC_000017.10:g.26729294C>T , CM000679.1:g.26729294C>T | GRCh37 |
| NC_000017.9:g.23753421C>T | NCBI36 |
| NG_013306.1:g.8935G>A , LRG_183:g.8935G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585482.6:c.*5990C>T (SARM1) MANE Select | ENSP00000468032.2:n.*5990C>T | |
| ENST00000612814.5:c.1127G>A (SLC46A1) MANE Select | ENSP00000480703.1:p.Arg376Gln | |
| ENST00000582735.1:c.206+2340G>A (SLC46A1) | ||
| ENST00000585482.5:c.*5990C>T (SARM1) | ENSP00000468032.2:n.*5990C>T | |
| ENST00000612814.4:c.1127G>A (SLC46A1) | ENSP00000480703.1:p.Arg376Gln | |
| ENST00000618626.1:c.1082-1510G>A (SLC46A1) | ENSP00000483652.1:n.1082-1510G>A | |
| NM_001242366.2:c.1082-1510G>A (SLC46A1) | NP_001229295.1:n.1082-1510G>A | |
| NM_080669.5:c.1127G>A (SLC46A1) | NP_542400.2:p.Arg376Gln | |
| XM_005277786.2:c.1081+2340G>A (SLC46A1) | XP_005277843.1:n.1081+2340G>A | |
| XM_005277786.3:c.1081+2340G>A (SLC46A1) | XP_005277843.1:n.1081+2340G>A | |
| XM_017024110.1:c.905G>A (SLC46A1) | XP_016879599.1:p.Arg302Gln | |
| NM_015077.4:c.*5990C>T (SARM1) MANE Select | NP_055892.2:n.*5990C>T | |
| NM_080669.6:c.1127G>A (SLC46A1) MANE Select | NP_542400.2:p.Arg376Gln | |
| NM_001242366.3:c.1082-1510G>A (SLC46A1) | NP_001229295.1:n.1082-1510G>A |