Linked Data
ClinVar Variation Id:
523392
ClinVar RCV Id:
RCV000626728
dbSNP Id:
rs992189342
gnomAD v4:
15-57618106-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.57618106C>A , CM000677.2:g.57618106C>A | GRCh38 |
| NC_000015.9:g.57910304C>A , CM000677.1:g.57910304C>A | GRCh37 |
| NC_000015.8:g.55697596C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267853.10:c.236C>A (MYZAP) MANE Select | ENSP00000267853.5:p.Ser79Ter | |
| ENST00000649429.1:c.236C>A (GCOM1) | ENSP00000497390.1:p.Ser79Ter | |
| ENST00000267853.9:c.236C>A (MYZAP) | ENSP00000267853.5:p.Ser79Ter | |
| ENST00000380565.8:c.236C>A (MYZAP) | ENSP00000369939.4:p.Ser79Ter | |
| ENST00000380568.7:c.236C>A (GCOM1) | ENSP00000369942.3:p.Ser79Ter | |
| ENST00000380569.6:c.236C>A (GCOM1) | ENSP00000369943.2:p.Ser79Ter | |
| ENST00000460962.5:c.236C>A (GCOM1) | ENSP00000435774.1:p.Ser79Ter | |
| ENST00000463717.5:c.236C>A (GCOM1) | ENSP00000435028.1:p.Ser79Ter | |
| ENST00000468886.5:c.236C>A (GCOM1) | ENSP00000433702.1:p.Ser79Ter | |
| ENST00000471563.5:c.236C>A (GCOM1) | ENSP00000432563.1:p.Ser79Ter | |
| ENST00000477282.5:c.236C>A (GCOM1) | ENSP00000434505.1:p.Ser79Ter | |
| ENST00000482814.5:c.236C>A (GCOM1) | ENSP00000436922.1:p.Ser79Ter | |
| ENST00000488175.5:c.236C>A (GCOM1) | ENSP00000432066.1:p.Ser79Ter | |
| ENST00000496101.5:c.236C>A (GCOM1) | ENSP00000434588.1:p.Ser79Ter | |
| ENST00000496627.5:c.236C>A (GCOM1) | ENSP00000436614.1:p.Ser79Ter | |
| ENST00000569089.1:c.191C>A (MYZAP) | ENSP00000457126.1:p.Ser64Ter | |
| ENST00000587652.5:c.236C>A (GCOM1) | ENSP00000465231.1:p.Ser79Ter | |
| NM_001018090.6:c.236C>A (GCOM1) | NP_001018100.1:p.Ser79Ter | |
| NM_001018091.6:c.236C>A (GCOM1) | NP_001018101.1:p.Ser79Ter | |
| NM_001018100.4:c.236C>A (MYZAP) | NP_001018110.1:p.Ser79Ter | |
| NM_001285900.3:c.236C>A (GCOM1) | NP_001272829.1:p.Ser79Ter | |
| NM_152451.7:c.236C>A (MYZAP) | NP_689664.3:p.Ser79Ter | |
| NR_104367.2:n.367C>A (GCOM1) | ||
| NR_104368.2:n.367C>A (GCOM1) | ||
| NR_104369.2:n.367C>A (GCOM1) | ||
| NR_104370.2:n.367C>A (GCOM1) | ||
| NR_104371.3:n.367C>A (GCOM1) | ||
| NM_001018100.5:c.236C>A (MYZAP) MANE Select | NP_001018110.1:p.Ser79Ter | |
| NM_152451.8:c.236C>A (MYZAP) | NP_689664.3:p.Ser79Ter |