Linked Data
ClinVar Variation Id:
21743
dbSNP Id:
rs80338774
gnomAD v4:
17-28400658-G-C
PubMed:
PMID:20301716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28400658G>C , CM000679.2:g.28400658G>C | GRCh38 |
| NC_000017.10:g.26727674G>C , CM000679.1:g.26727674G>C | GRCh37 |
| NC_000017.9:g.23751801G>C | NCBI36 |
| NG_013306.1:g.10554C>G , LRG_183:g.10554C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585482.6:c.*4372G>C (SARM1) MANE Select | ENSP00000468032.2:n.*4372G>C | |
| ENST00000612814.5:c.1274C>G (SLC46A1) MANE Select | ENSP00000480703.1:p.Pro425Arg | |
| ENST00000582735.1:c.207-945C>G (SLC46A1) | ||
| ENST00000585482.5:c.*4372G>C (SARM1) | ENSP00000468032.2:n.*4372G>C | |
| ENST00000612814.4:c.1274C>G (SLC46A1) | ENSP00000480703.1:p.Pro425Arg | |
| ENST00000618626.1:c.1190C>G (SLC46A1) | ENSP00000483652.1:p.Pro397Arg | |
| ENST00000619923.1:n.388C>G (SLC46A1) | ||
| NM_001242366.2:c.1190C>G (SLC46A1) | NP_001229295.1:p.Pro397Arg | |
| NM_015077.3:c.*4372G>C (SARM1) | NP_055892.2:n.*4372G>C | |
| NM_080669.5:c.1274C>G (SLC46A1) | NP_542400.2:p.Pro425Arg | |
| XM_005277786.2:c.1082-945C>G (SLC46A1) | XP_005277843.1:n.1082-945C>G | |
| XM_005277786.3:c.1082-945C>G (SLC46A1) | XP_005277843.1:n.1082-945C>G | |
| XM_017024110.1:c.1052C>G (SLC46A1) | XP_016879599.1:p.Pro351Arg | |
| NM_015077.4:c.*4372G>C (SARM1) MANE Select | NP_055892.2:n.*4372G>C | |
| NM_080669.6:c.1274C>G (SLC46A1) MANE Select | NP_542400.2:p.Pro425Arg | |
| NM_001242366.3:c.1190C>G (SLC46A1) | NP_001229295.1:p.Pro397Arg |