Linked Data
ClinVar Variation Id:
199255
ClinVar RCV Id:
RCV000180777
dbSNP Id:
rs794727994
PubMed:
PMID:25894502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160314104T>C , CM000663.2:g.160314104T>C | GRCh38 |
| NC_000001.10:g.160283894T>C , CM000663.1:g.160283894T>C | GRCh37 |
| NC_000001.9:g.158550518T>C | NCBI36 |
| NG_050927.1:g.34461A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696202.1:n.400A>G (COPA) | ||
| ENST00000696203.1:n.3212A>G (COPA) | ||
| ENST00000696204.1:n.3419A>G (COPA) | ||
| ENST00000696206.1:n.499A>G (COPA) | ||
| ENST00000696207.1:n.725A>G (COPA) | ||
| ENST00000696208.1:n.831A>G (COPA) | ||
| ENST00000696209.1:n.1124A>G (COPA) | ||
| ENST00000696210.1:n.1124A>G (COPA) | ||
| ENST00000696211.1:n.1124A>G (COPA) | ||
| ENST00000696212.1:n.3412A>G (COPA) | ||
| ENST00000696213.1:n.1855A>G (COPA) | ||
| ENST00000696214.1:n.3438A>G (COPA) | ||
| ENST00000696215.1:n.831A>G (COPA) | ||
| ENST00000241704.8:c.728A>G (COPA) MANE Select | ENSP00000241704.7:p.Asp243Gly | |
| ENST00000647683.1:c.728A>G (COPA) | ENSP00000497495.1:p.Asp243Gly | |
| ENST00000647693.1:n.1812A>G (COPA) | ||
| ENST00000647799.1:c.*165A>G (COPA) | ENSP00000497970.1:n.*165A>G | |
| ENST00000647899.1:c.247A>G (COPA) | ||
| ENST00000648501.1:c.316-937A>G (COPA) | ||
| ENST00000648805.1:c.728A>G (COPA) | ENSP00000497433.1:p.Asp243Gly | |
| ENST00000649231.1:c.728A>G (COPA) | ENSP00000498061.1:p.Asp243Gly | |
| ENST00000649676.1:c.275A>G (COPA) | ENSP00000497257.1:p.Asp92Gly | |
| ENST00000649787.1:c.728A>G (COPA) | ENSP00000497231.1:p.Asp243Gly | |
| ENST00000649963.1:c.*417A>G (COPA) | ENSP00000498129.1:n.*417A>G | |
| ENST00000650154.1:c.*165A>G (COPA) | ENSP00000497094.1:n.*165A>G | |
| ENST00000241704.7:c.728A>G (COPA) | ENSP00000241704.7:p.Asp243Gly | |
| ENST00000368069.7:c.728A>G (COPA) | ENSP00000357048.3:p.Asp243Gly | |
| NM_001098398.1:c.728A>G (COPA) | NP_001091868.1:p.Asp243Gly | |
| NM_004371.3:c.728A>G (COPA) | NP_004362.2:p.Asp243Gly | |
| XM_011509584.1:c.-176+27513T>C (NHLH1) | XP_011507886.1:n.-176+27513T>C | |
| NM_001098398.2:c.728A>G (COPA) | NP_001091868.1:p.Asp243Gly | |
| NM_004371.4:c.728A>G (COPA) MANE Select | NP_004362.2:p.Asp243Gly |