Linked Data
ClinVar Variation Id:
325394
ClinVar RCV Id:
RCV000291697
dbSNP Id:
rs575138461
gnomAD v2:
17-73975327-G-A
gnomAD v3:
17-75979246-G-A
gnomAD v4:
17-75979246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75979246G>A , CM000679.2:g.75979246G>A | GRCh38 |
| NC_000017.10:g.73975327G>A , CM000679.1:g.73975327G>A | GRCh37 |
| NC_000017.9:g.71486922G>A | NCBI36 |
| NG_008190.1:g.5118C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397640.6:c.-272G>A (TEN1) MANE Select | ENSP00000380762.1:n.-272G>A | |
| ENST00000293217.9:c.-173C>T (ACOX1) | ENSP00000293217.4:n.-173C>T | |
| ENST00000397640.5:c.-272G>A (TEN1) | ENSP00000380762.1:n.-272G>A | |
| ENST00000567351.5:n.16G>A (TEN1-CDK3) | ||
| ENST00000588202.5:c.-272G>A (TEN1) | ENSP00000465866.1:n.-272G>A | |
| NM_001113324.2:c.-272G>A (TEN1) | NP_001106795.2:n.-272G>A | |
| NM_001185039.1:c.-461C>T (ACOX1) | NP_001171968.1:n.-461C>T | |
| NM_004035.6:c.-173C>T (ACOX1) | NP_004026.2:n.-173C>T | |
| NM_007292.5:c.-173C>T (ACOX1) | NP_009223.2:n.-173C>T | |
| NR_037709.1:n.30G>A (TEN1-CDK3) | ||
| NM_001113324.3:c.-272G>A (TEN1) MANE Select | NP_001106795.2:n.-272G>A |