Linked Data
ClinVar Variation Id:
1928121
ClinVar RCV Id:
RCV002614371
dbSNP Id:
rs1380526285
gnomAD v3:
1-160313991-G-A
gnomAD v4:
1-160313991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160313991G>A , CM000663.2:g.160313991G>A | GRCh38 |
| NC_000001.10:g.160283781G>A , CM000663.1:g.160283781G>A | GRCh37 |
| NC_000001.9:g.158550405G>A | NCBI36 |
| NG_050927.1:g.34574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696202.1:n.513C>T (COPA) | ||
| ENST00000696203.1:n.3325C>T (COPA) | ||
| ENST00000696204.1:n.3532C>T (COPA) | ||
| ENST00000696206.1:n.612C>T (COPA) | ||
| ENST00000696207.1:n.838C>T (COPA) | ||
| ENST00000696208.1:n.944C>T (COPA) | ||
| ENST00000696209.1:n.1237C>T (COPA) | ||
| ENST00000696210.1:n.1237C>T (COPA) | ||
| ENST00000696211.1:n.1237C>T (COPA) | ||
| ENST00000696212.1:n.3525C>T (COPA) | ||
| ENST00000696213.1:n.1968C>T (COPA) | ||
| ENST00000696214.1:n.3551C>T (COPA) | ||
| ENST00000696215.1:n.944C>T (COPA) | ||
| ENST00000241704.8:c.841C>T (COPA) MANE Select | ENSP00000241704.7:p.Arg281Trp | |
| ENST00000647683.1:c.841C>T (COPA) | ENSP00000497495.1:p.Arg281Trp | |
| ENST00000647693.1:n.1925C>T (COPA) | ||
| ENST00000647799.1:c.*278C>T (COPA) | ENSP00000497970.1:n.*278C>T | |
| ENST00000647899.1:c.360C>T (COPA) | ||
| ENST00000648501.1:c.316-824C>T (COPA) | ||
| ENST00000648805.1:c.841C>T (COPA) | ENSP00000497433.1:p.Arg281Trp | |
| ENST00000649231.1:c.841C>T (COPA) | ENSP00000498061.1:p.Arg281Trp | |
| ENST00000649676.1:c.388C>T (COPA) | ENSP00000497257.1:p.Arg130Trp | |
| ENST00000649787.1:c.841C>T (COPA) | ENSP00000497231.1:p.Arg281Trp | |
| ENST00000649963.1:c.*530C>T (COPA) | ENSP00000498129.1:n.*530C>T | |
| ENST00000650154.1:c.*278C>T (COPA) | ENSP00000497094.1:n.*278C>T | |
| ENST00000241704.7:c.841C>T (COPA) | ENSP00000241704.7:p.Arg281Trp | |
| ENST00000368069.7:c.841C>T (COPA) | ENSP00000357048.3:p.Arg281Trp | |
| NM_001098398.1:c.841C>T (COPA) | NP_001091868.1:p.Arg281Trp | |
| NM_004371.3:c.841C>T (COPA) | NP_004362.2:p.Arg281Trp | |
| XM_011509584.1:c.-176+27400G>A (NHLH1) | XP_011507886.1:n.-176+27400G>A | |
| NM_001098398.2:c.841C>T (COPA) | NP_001091868.1:p.Arg281Trp | |
| NM_004371.4:c.841C>T (COPA) MANE Select | NP_004362.2:p.Arg281Trp |