Linked Data
ClinVar Variation Id:
226122
ClinVar RCV Id:
RCV000211464
dbSNP Id:
rs875989885
PubMed:
PMID:25062452
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133555706G>A , CM000672.2:g.133555706G>A | GRCh38 |
| NC_000010.10:g.135369210G>A , CM000672.1:g.135369210G>A | GRCh37 |
| NC_000010.9:g.135219200G>A | NCBI36 |
| NG_052008.1:g.17570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343131.7:c.721C>T (SYCE1) MANE Select | ENSP00000341282.5:p.Gln241Ter | |
| ENST00000303903.10:c.721C>T (SYCE1) | ENSP00000303978.5:p.Gln241Ter | |
| ENST00000343131.5:c.721C>T (SYCE1) | ENSP00000341282.5:p.Gln241Ter | |
| ENST00000368517.7:c.613C>T (SYCE1) | ENSP00000357503.3:p.Gln205Ter | |
| ENST00000368520.1:n.2404G>A (CYP2E1) | ||
| ENST00000479535.2:n.1854C>T (SYCE1) | ||
| NM_001143763.1:c.721C>T (SYCE1) | NP_001137235.1:p.Gln241Ter | |
| NM_001143764.1:c.721C>T (SYCE1) | NP_001137236.1:p.Gln241Ter | |
| NM_130784.2:c.613C>T (SYCE1) | NP_570140.1:p.Gln205Ter | |
| NM_001143764.2:c.721C>T (SYCE1) | NP_001137236.1:p.Gln241Ter | |
| NM_130784.3:c.613C>T (SYCE1) | NP_570140.1:p.Gln205Ter | |
| NM_001143764.3:c.721C>T (SYCE1) MANE Select | NP_001137236.1:p.Gln241Ter | |
| NM_001143763.2:c.721C>T (SYCE1) | NP_001137235.1:p.Gln241Ter | |
| NM_130784.4:c.613C>T (SYCE1) | NP_570140.1:p.Gln205Ter |