Linked Data
dbSNP Id:
rs757243284
ExAC:
1:160283785 A / G
gnomAD v2:
1-160283785-A-G
gnomAD v4:
1-160313995-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160313995A>G , CM000663.2:g.160313995A>G | GRCh38 |
| NC_000001.10:g.160283785A>G , CM000663.1:g.160283785A>G | GRCh37 |
| NC_000001.9:g.158550409A>G | NCBI36 |
| NG_050927.1:g.34570T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696202.1:n.509T>C (COPA) | ||
| ENST00000696203.1:n.3321T>C (COPA) | ||
| ENST00000696204.1:n.3528T>C (COPA) | ||
| ENST00000696206.1:n.608T>C (COPA) | ||
| ENST00000696207.1:n.834T>C (COPA) | ||
| ENST00000696208.1:n.940T>C (COPA) | ||
| ENST00000696209.1:n.1233T>C (COPA) | ||
| ENST00000696210.1:n.1233T>C (COPA) | ||
| ENST00000696211.1:n.1233T>C (COPA) | ||
| ENST00000696212.1:n.3521T>C (COPA) | ||
| ENST00000696213.1:n.1964T>C (COPA) | ||
| ENST00000696214.1:n.3547T>C (COPA) | ||
| ENST00000696215.1:n.940T>C (COPA) | ||
| ENST00000241704.8:c.837T>C (COPA) MANE Select | ENSP00000241704.7:p.Ser279= | |
| ENST00000647683.1:c.837T>C (COPA) | ENSP00000497495.1:p.Ser279= | |
| ENST00000647693.1:n.1921T>C (COPA) | ||
| ENST00000647799.1:c.*274T>C (COPA) | ENSP00000497970.1:n.*274T>C | |
| ENST00000647899.1:c.356T>C (COPA) | ||
| ENST00000648501.1:c.316-828T>C (COPA) | ||
| ENST00000648805.1:c.837T>C (COPA) | ENSP00000497433.1:p.Ser279= | |
| ENST00000649231.1:c.837T>C (COPA) | ENSP00000498061.1:p.Ser279= | |
| ENST00000649676.1:c.384T>C (COPA) | ENSP00000497257.1:p.Ser128= | |
| ENST00000649787.1:c.837T>C (COPA) | ENSP00000497231.1:p.Ser279= | |
| ENST00000649963.1:c.*526T>C (COPA) | ENSP00000498129.1:n.*526T>C | |
| ENST00000650154.1:c.*274T>C (COPA) | ENSP00000497094.1:n.*274T>C | |
| ENST00000241704.7:c.837T>C (COPA) | ENSP00000241704.7:p.Ser279= | |
| ENST00000368069.7:c.837T>C (COPA) | ENSP00000357048.3:p.Ser279= | |
| NM_001098398.1:c.837T>C (COPA) | NP_001091868.1:p.Ser279= | |
| NM_004371.3:c.837T>C (COPA) | NP_004362.2:p.Ser279= | |
| XM_011509584.1:c.-176+27404A>G (NHLH1) | XP_011507886.1:n.-176+27404A>G | |
| NM_001098398.2:c.837T>C (COPA) | NP_001091868.1:p.Ser279= | |
| NM_004371.4:c.837T>C (COPA) MANE Select | NP_004362.2:p.Ser279= |