Linked Data
ClinVar Variation Id:
2026869
ClinVar RCV Id:
RCV002871581
dbSNP Id:
rs1297111092
gnomAD v2:
6-116600414-C-A
gnomAD v4:
6-116279251-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116279251C>A , CM000668.2:g.116279251C>A | GRCh38 |
| NC_000006.11:g.116600414C>A , CM000668.1:g.116600414C>A | GRCh37 |
| NC_000006.10:g.116707107C>A | NCBI36 |
| NG_016217.1:g.5867G>T , LRG_862:g.5867G>T | |
| NG_033266.1:g.4132C>A | |
| NG_033266.3:g.30100C>A | |
| NG_033266.4:g.30081C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368608.4:c.580G>T (TSPYL1) MANE Select | ENSP00000357597.4:p.Glu194Ter | |
| ENST00000647244.1:c.-54+20284C>A (DSE) | ENSP00000495184.1:n.-54+20284C>A | |
| ENST00000652202.1:c.580G>T (TSPYL1) | ENSP00000498597.1:p.Glu194Ter | |
| ENST00000368608.3:c.580G>T (TSPYL1) | ENSP00000357597.3:p.Glu194Ter | |
| ENST00000430252.6:c.-54+20284C>A (DSE) | ENSP00000397597.2:n.-54+20284C>A | |
| ENST00000607094.1:n.109C>A (DSE) | ||
| NM_003309.3:c.580G>T , LRG_862t1:c.580G>T (TSPYL1) | NP_003300.1:p.Glu194Ter | |
| NM_001322937.1:c.-54+20284C>A (DSE) | NP_001309866.1:n.-54+20284C>A | |
| NM_001322938.1:c.-54+20284C>A (DSE) | NP_001309867.1:n.-54+20284C>A | |
| NM_001322940.1:c.-611+20284C>A (DSE) | NP_001309869.1:n.-611+20284C>A | |
| NM_001322937.2:c.-54+20284C>A (DSE) | NP_001309866.1:n.-54+20284C>A | |
| NM_001322938.2:c.-54+20284C>A (DSE) | NP_001309867.1:n.-54+20284C>A | |
| NM_001322940.2:c.-611+20284C>A (DSE) | NP_001309869.1:n.-611+20284C>A | |
| NM_001374520.1:c.-954+20284C>A (DSE) | NP_001361449.1:n.-954+20284C>A | |
| NM_001374521.1:c.-641+20284C>A (DSE) | NP_001361450.1:n.-641+20284C>A | |
| NM_001374522.1:c.-54+20284C>A (DSE) | NP_001361451.1:n.-54+20284C>A | |
| NM_003309.4:c.580G>T (TSPYL1) MANE Select | NP_003300.1:p.Glu194Ter |