Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37249430G>C , CM000667.2:g.37249430G>C | GRCh38 |
| NC_000005.9:g.37249532G>C , CM000667.1:g.37249532G>C | GRCh37 |
| NC_000005.8:g.37285289G>C | NCBI36 |
| NG_032772.1:g.4999C>G | |
| NG_032772.2:g.4999C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925921.1:n.171+209G>C (CPLANE1-AS1) | ||
| NR_134263.1:n.176+209G>C (CPLANE1-AS1) | ||
| XM_005248345.4:c.-233C>G (CPLANE1) | XP_005248402.1:n.-233C>G | |
| XM_005248346.4:c.-233C>G (CPLANE1) | XP_005248403.1:n.-233C>G | |
| XM_005248347.4:c.-233C>G (CPLANE1) | XP_005248404.1:n.-233C>G | |
| XM_005248349.4:c.-233C>G (CPLANE1) | XP_005248406.1:n.-233C>G | |
| XM_005248350.4:c.-233C>G (CPLANE1) | XP_005248407.1:n.-233C>G |