Linked Data
dbSNP Id:
rs1160025104
gnomAD v2:
5-37249479-G-C
gnomAD v3:
5-37249377-G-C
gnomAD v4:
5-37249377-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37249377G>C , CM000667.2:g.37249377G>C | GRCh38 |
| NC_000005.9:g.37249479G>C , CM000667.1:g.37249479G>C | GRCh37 |
| NC_000005.8:g.37285236G>C | NCBI36 |
| NG_032772.1:g.5052C>G | |
| NG_032772.2:g.5052C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425232.6:c.-180C>G (CPLANE1) | ENSP00000389014.2:n.-180C>G | |
| NM_023073.3:c.-180C>G (CPLANE1) | NP_075561.3:n.-180C>G | |
| XM_011514093.1:c.-180C>G (CPLANE1) | XP_011512395.1:n.-180C>G | |
| XR_925921.1:n.171+156G>C (CPLANE1-AS1) | ||
| NR_134263.1:n.176+156G>C (CPLANE1-AS1) | ||
| XM_005248345.4:c.-180C>G (CPLANE1) | XP_005248402.1:n.-180C>G | |
| XM_005248346.4:c.-180C>G (CPLANE1) | XP_005248403.1:n.-180C>G | |
| XM_005248347.4:c.-180C>G (CPLANE1) | XP_005248404.1:n.-180C>G | |
| XM_005248349.4:c.-180C>G (CPLANE1) | XP_005248406.1:n.-180C>G | |
| XM_005248350.4:c.-180C>G (CPLANE1) | XP_005248407.1:n.-180C>G | |
| XM_011514086.3:c.-223C>G (CPLANE1) | XP_011512388.1:n.-223C>G | |
| XM_011514087.2:c.-180C>G (CPLANE1) | XP_011512389.1:n.-180C>G | |
| XM_011514088.2:c.-180C>G (CPLANE1) | XP_011512390.1:n.-180C>G | |
| XM_011514089.2:c.-180C>G (CPLANE1) | XP_011512391.1:n.-180C>G | |
| XM_011514090.3:c.-417C>G (CPLANE1) | XP_011512392.1:n.-417C>G | |
| XM_011514092.2:c.-180C>G (CPLANE1) | XP_011512394.1:n.-180C>G | |
| XM_017009761.2:c.-152C>G (CPLANE1) | XP_016865250.1:n.-152C>G | |
| XM_024446184.1:c.-460C>G (CPLANE1) | XP_024301952.1:n.-460C>G | |
| XM_024446185.1:c.-707C>G (CPLANE1) | XP_024301953.1:n.-707C>G | |
| XM_024446186.1:c.-1178C>G (CPLANE1) | XP_024301954.1:n.-1178C>G | |
| XR_001742208.1:n.45C>G (CPLANE1) | ||
| XR_002956171.1:n.45C>G (CPLANE1) | ||
| XR_925644.2:n.45C>G (CPLANE1) |