Linked Data
dbSNP Id:
rs1315746682
gnomAD v2:
1-160283855-A-G
gnomAD v3:
1-160314065-A-G
gnomAD v4:
1-160314065-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160314065A>G , CM000663.2:g.160314065A>G | GRCh38 |
| NC_000001.10:g.160283855A>G , CM000663.1:g.160283855A>G | GRCh37 |
| NC_000001.9:g.158550479A>G | NCBI36 |
| NG_050927.1:g.34500T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696202.1:n.439T>C (COPA) | ||
| ENST00000696203.1:n.3251T>C (COPA) | ||
| ENST00000696204.1:n.3458T>C (COPA) | ||
| ENST00000696206.1:n.538T>C (COPA) | ||
| ENST00000696207.1:n.764T>C (COPA) | ||
| ENST00000696208.1:n.870T>C (COPA) | ||
| ENST00000696209.1:n.1163T>C (COPA) | ||
| ENST00000696210.1:n.1163T>C (COPA) | ||
| ENST00000696211.1:n.1163T>C (COPA) | ||
| ENST00000696212.1:n.3451T>C (COPA) | ||
| ENST00000696213.1:n.1894T>C (COPA) | ||
| ENST00000696214.1:n.3477T>C (COPA) | ||
| ENST00000696215.1:n.870T>C (COPA) | ||
| ENST00000241704.8:c.767T>C (COPA) MANE Select | ENSP00000241704.7:p.Val256Ala | |
| ENST00000647683.1:c.767T>C (COPA) | ENSP00000497495.1:p.Val256Ala | |
| ENST00000647693.1:n.1851T>C (COPA) | ||
| ENST00000647799.1:c.*204T>C (COPA) | ENSP00000497970.1:n.*204T>C | |
| ENST00000647899.1:c.286T>C (COPA) | ||
| ENST00000648501.1:c.316-898T>C (COPA) | ||
| ENST00000648805.1:c.767T>C (COPA) | ENSP00000497433.1:p.Val256Ala | |
| ENST00000649231.1:c.767T>C (COPA) | ENSP00000498061.1:p.Val256Ala | |
| ENST00000649676.1:c.314T>C (COPA) | ENSP00000497257.1:p.Val105Ala | |
| ENST00000649787.1:c.767T>C (COPA) | ENSP00000497231.1:p.Val256Ala | |
| ENST00000649963.1:c.*456T>C (COPA) | ENSP00000498129.1:n.*456T>C | |
| ENST00000650154.1:c.*204T>C (COPA) | ENSP00000497094.1:n.*204T>C | |
| ENST00000241704.7:c.767T>C (COPA) | ENSP00000241704.7:p.Val256Ala | |
| ENST00000368069.7:c.767T>C (COPA) | ENSP00000357048.3:p.Val256Ala | |
| NM_001098398.1:c.767T>C (COPA) | NP_001091868.1:p.Val256Ala | |
| NM_004371.3:c.767T>C (COPA) | NP_004362.2:p.Val256Ala | |
| XM_011509584.1:c.-176+27474A>G (NHLH1) | XP_011507886.1:n.-176+27474A>G | |
| NM_001098398.2:c.767T>C (COPA) | NP_001091868.1:p.Val256Ala | |
| NM_004371.4:c.767T>C (COPA) MANE Select | NP_004362.2:p.Val256Ala |