Linked Data
ClinVar Variation Id:
542647
ClinVar RCV Id:
RCV000653107
dbSNP Id:
rs747075563
ExAC:
1:160260464 G / A
gnomAD v2:
1-160260464-G-A
gnomAD v3:
1-160290674-G-A
gnomAD v4:
1-160290674-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160290674G>A , CM000663.2:g.160290674G>A | GRCh38 |
| NC_000001.10:g.160260464G>A , CM000663.1:g.160260464G>A | GRCh37 |
| NC_000001.9:g.158527088G>A | NCBI36 |
| NG_050927.1:g.57891C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696202.1:n.3105C>T (COPA) | ||
| ENST00000696203.1:n.5917C>T (COPA) | ||
| ENST00000696204.1:n.6124C>T (COPA) | ||
| ENST00000696205.1:n.1860C>T (COPA) | ||
| ENST00000696206.1:n.2894C>T (COPA) | ||
| ENST00000696207.1:n.4362C>T (COPA) | ||
| ENST00000696208.1:n.3646C>T (COPA) | ||
| ENST00000696209.1:n.4030C>T (COPA) | ||
| ENST00000241704.8:c.3433C>T (COPA) MANE Select | ENSP00000241704.7:p.Leu1145= | |
| ENST00000647683.1:c.3373C>T (COPA) | ENSP00000497495.1:p.Leu1125= | |
| ENST00000647693.1:n.4354C>T (COPA) | ||
| ENST00000647799.1:c.*2787C>T (COPA) | ENSP00000497970.1:n.*2787C>T | |
| ENST00000648280.1:c.1115C>T (COPA) | ||
| ENST00000648501.1:c.2906C>T (COPA) | ||
| ENST00000648805.1:c.*1964C>T (COPA) | ENSP00000497433.1:n.*1964C>T | |
| ENST00000649231.1:c.*1293C>T (COPA) | ENSP00000498061.1:n.*1293C>T | |
| ENST00000649676.1:c.2833C>T (COPA) | ENSP00000497257.1:p.Leu945= | |
| ENST00000649787.1:c.3373C>T (COPA) | ENSP00000497231.1:p.Leu1125= | |
| ENST00000649963.1:c.*3122C>T (COPA) | ENSP00000498129.1:n.*3122C>T | |
| ENST00000650154.1:c.*2870C>T (COPA) | ENSP00000497094.1:n.*2870C>T | |
| ENST00000241704.7:c.3433C>T (COPA) | ENSP00000241704.7:p.Leu1145= | |
| ENST00000368069.7:c.3460C>T (COPA) | ENSP00000357048.3:p.Leu1154= | |
| NM_001098398.1:c.3460C>T (COPA) | NP_001091868.1:p.Leu1154= | |
| NM_004371.3:c.3433C>T (COPA) | NP_004362.2:p.Leu1145= | |
| XM_011509584.1:c.-176+4083G>A (NHLH1) | XP_011507886.1:n.-176+4083G>A | |
| XR_001738265.1:n.134-583G>A | ||
| NM_001098398.2:c.3460C>T (COPA) | NP_001091868.1:p.Leu1154= | |
| NM_004371.4:c.3433C>T (COPA) MANE Select | NP_004362.2:p.Leu1145= |