Linked Data
ClinVar Variation Id:
1542141
ClinVar RCV Id:
RCV002179662
dbSNP Id:
rs768196964
ExAC:
6:116599935 A / G
gnomAD v2:
6-116599935-A-G
gnomAD v3:
6-116278772-A-G
gnomAD v4:
6-116278772-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116278772A>G , CM000668.2:g.116278772A>G | GRCh38 |
| NC_000006.11:g.116599935A>G , CM000668.1:g.116599935A>G | GRCh37 |
| NC_000006.10:g.116706628A>G | NCBI36 |
| NG_016217.1:g.6346T>C , LRG_862:g.6346T>C | |
| NG_033266.1:g.3653A>G | |
| NG_033266.3:g.29621A>G | |
| NG_033266.4:g.29602A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368608.4:c.1059T>C (TSPYL1) MANE Select | ENSP00000357597.4:p.Thr353= | |
| ENST00000647244.1:c.-54+19805A>G (DSE) | ENSP00000495184.1:n.-54+19805A>G | |
| ENST00000652202.1:c.1059T>C (TSPYL1) | ENSP00000498597.1:p.Thr353= | |
| ENST00000368608.3:c.1059T>C (TSPYL1) | ENSP00000357597.3:p.Thr353= | |
| ENST00000430252.6:c.-54+19805A>G (DSE) | ENSP00000397597.2:n.-54+19805A>G | |
| NM_003309.3:c.1059T>C , LRG_862t1:c.1059T>C (TSPYL1) | NP_003300.1:p.Thr353= | |
| NM_001322937.1:c.-54+19805A>G (DSE) | NP_001309866.1:n.-54+19805A>G | |
| NM_001322938.1:c.-54+19805A>G (DSE) | NP_001309867.1:n.-54+19805A>G | |
| NM_001322940.1:c.-611+19805A>G (DSE) | NP_001309869.1:n.-611+19805A>G | |
| NM_001322937.2:c.-54+19805A>G (DSE) | NP_001309866.1:n.-54+19805A>G | |
| NM_001322938.2:c.-54+19805A>G (DSE) | NP_001309867.1:n.-54+19805A>G | |
| NM_001322940.2:c.-611+19805A>G (DSE) | NP_001309869.1:n.-611+19805A>G | |
| NM_001374520.1:c.-954+19805A>G (DSE) | NP_001361449.1:n.-954+19805A>G | |
| NM_001374521.1:c.-641+19805A>G (DSE) | NP_001361450.1:n.-641+19805A>G | |
| NM_001374522.1:c.-54+19805A>G (DSE) | NP_001361451.1:n.-54+19805A>G | |
| NM_003309.4:c.1059T>C (TSPYL1) MANE Select | NP_003300.1:p.Thr353= |