Linked Data
ClinVar Variation Id:
1050931
ClinVar RCV Id:
RCV001358903
dbSNP Id:
rs181135283
gnomAD v4:
1-160291424-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160291424G>T , CM000663.2:g.160291424G>T | GRCh38 |
| NC_000001.10:g.160261214G>T , CM000663.1:g.160261214G>T | GRCh37 |
| NC_000001.9:g.158527838G>T | NCBI36 |
| NG_050927.1:g.57141C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696202.1:n.3003C>A (COPA) | ||
| ENST00000696203.1:n.5815C>A (COPA) | ||
| ENST00000696204.1:n.6022C>A (COPA) | ||
| ENST00000696205.1:n.1758C>A (COPA) | ||
| ENST00000696206.1:n.2792C>A (COPA) | ||
| ENST00000696207.1:n.4260C>A (COPA) | ||
| ENST00000696208.1:n.3544C>A (COPA) | ||
| ENST00000696209.1:n.3928C>A (COPA) | ||
| ENST00000696210.1:n.3727C>A (COPA) | ||
| ENST00000241704.8:c.3331C>A (COPA) MANE Select | ENSP00000241704.7:p.Leu1111Met | |
| ENST00000647683.1:c.3271C>A (COPA) | ENSP00000497495.1:p.Leu1091Met | |
| ENST00000647693.1:n.4252C>A (COPA) | ||
| ENST00000647799.1:c.*2685C>A (COPA) | ENSP00000497970.1:n.*2685C>A | |
| ENST00000648280.1:c.1013C>A (COPA) | ||
| ENST00000648501.1:c.2804C>A (COPA) | ||
| ENST00000648805.1:c.*1862C>A (COPA) | ENSP00000497433.1:n.*1862C>A | |
| ENST00000649231.1:c.*1191C>A (COPA) | ENSP00000498061.1:n.*1191C>A | |
| ENST00000649676.1:c.2731C>A (COPA) | ENSP00000497257.1:p.Leu911Met | |
| ENST00000649787.1:c.3271C>A (COPA) | ENSP00000497231.1:p.Leu1091Met | |
| ENST00000649963.1:c.*3020C>A (COPA) | ENSP00000498129.1:n.*3020C>A | |
| ENST00000650154.1:c.*2768C>A (COPA) | ENSP00000497094.1:n.*2768C>A | |
| ENST00000241704.7:c.3331C>A (COPA) | ENSP00000241704.7:p.Leu1111Met | |
| ENST00000368069.7:c.3358C>A (COPA) | ENSP00000357048.3:p.Leu1120Met | |
| NM_001098398.1:c.3358C>A (COPA) | NP_001091868.1:p.Leu1120Met | |
| NM_004371.3:c.3331C>A (COPA) | NP_004362.2:p.Leu1111Met | |
| XM_011509584.1:c.-176+4833G>T (NHLH1) | XP_011507886.1:n.-176+4833G>T | |
| NM_001098398.2:c.3358C>A (COPA) | NP_001091868.1:p.Leu1120Met | |
| NM_004371.4:c.3331C>A (COPA) MANE Select | NP_004362.2:p.Leu1111Met |