Linked Data
ClinVar Variation Id:
970584
dbSNP Id:
rs369330981
ExAC:
1:160261716 G / C
gnomAD v2:
1-160261716-G-C
gnomAD v3:
1-160291926-G-C
gnomAD v4:
1-160291926-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160291926G>C , CM000663.2:g.160291926G>C | GRCh38 |
| NC_000001.10:g.160261716G>C , CM000663.1:g.160261716G>C | GRCh37 |
| NC_000001.9:g.158528340G>C | NCBI36 |
| NG_050927.1:g.56639C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696202.1:n.2823C>G (COPA) | ||
| ENST00000696203.1:n.5635C>G (COPA) | ||
| ENST00000696204.1:n.5842C>G (COPA) | ||
| ENST00000696205.1:n.1578C>G (COPA) | ||
| ENST00000696206.1:n.2612C>G (COPA) | ||
| ENST00000696207.1:n.4080C>G (COPA) | ||
| ENST00000696208.1:n.3364C>G (COPA) | ||
| ENST00000696209.1:n.3748C>G (COPA) | ||
| ENST00000696210.1:n.3547C>G (COPA) | ||
| ENST00000241704.8:c.3151C>G (COPA) MANE Select | ENSP00000241704.7:p.Gln1051Glu | |
| ENST00000647683.1:c.3091C>G (COPA) | ENSP00000497495.1:p.Gln1031Glu | |
| ENST00000647693.1:n.4072C>G (COPA) | ||
| ENST00000647799.1:c.*2505C>G (COPA) | ENSP00000497970.1:n.*2505C>G | |
| ENST00000648280.1:c.833C>G (COPA) | ||
| ENST00000648501.1:c.2624C>G (COPA) | ||
| ENST00000648805.1:c.*1682C>G (COPA) | ENSP00000497433.1:n.*1682C>G | |
| ENST00000649231.1:c.*1011C>G (COPA) | ENSP00000498061.1:n.*1011C>G | |
| ENST00000649676.1:c.2551C>G (COPA) | ENSP00000497257.1:p.Gln851Glu | |
| ENST00000649787.1:c.3091C>G (COPA) | ENSP00000497231.1:p.Gln1031Glu | |
| ENST00000649963.1:c.*2840C>G (COPA) | ENSP00000498129.1:n.*2840C>G | |
| ENST00000650154.1:c.*2588C>G (COPA) | ENSP00000497094.1:n.*2588C>G | |
| ENST00000241704.7:c.3151C>G (COPA) | ENSP00000241704.7:p.Gln1051Glu | |
| ENST00000368069.7:c.3178C>G (COPA) | ENSP00000357048.3:p.Gln1060Glu | |
| NM_001098398.1:c.3178C>G (COPA) | NP_001091868.1:p.Gln1060Glu | |
| NM_004371.3:c.3151C>G (COPA) | NP_004362.2:p.Gln1051Glu | |
| XM_011509584.1:c.-176+5335G>C (NHLH1) | XP_011507886.1:n.-176+5335G>C | |
| NM_001098398.2:c.3178C>G (COPA) | NP_001091868.1:p.Gln1060Glu | |
| NM_004371.4:c.3151C>G (COPA) MANE Select | NP_004362.2:p.Gln1051Glu |