Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37249424G>A , CM000667.2:g.37249424G>A | GRCh38 |
| NC_000005.9:g.37249526G>A , CM000667.1:g.37249526G>A | GRCh37 |
| NC_000005.8:g.37285283G>A | NCBI36 |
| NG_032772.1:g.5005C>T | |
| NG_032772.2:g.5005C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425232.6:c.-227C>T (CPLANE1) | ENSP00000389014.2:n.-227C>T | |
| NM_023073.3:c.-227C>T (CPLANE1) | NP_075561.3:n.-227C>T | |
| XR_925921.1:n.171+203G>A (CPLANE1-AS1) | ||
| NR_134263.1:n.176+203G>A (CPLANE1-AS1) | ||
| XM_005248345.4:c.-227C>T (CPLANE1) | XP_005248402.1:n.-227C>T | |
| XM_005248346.4:c.-227C>T (CPLANE1) | XP_005248403.1:n.-227C>T | |
| XM_005248347.4:c.-227C>T (CPLANE1) | XP_005248404.1:n.-227C>T | |
| XM_005248349.4:c.-227C>T (CPLANE1) | XP_005248406.1:n.-227C>T | |
| XM_005248350.4:c.-227C>T (CPLANE1) | XP_005248407.1:n.-227C>T |