Linked Data
ClinVar Variation Id:
510602
ClinVar RCV Id:
RCV000603772
dbSNP Id:
rs535739458
gnomAD v2:
5-37249337-G-T
gnomAD v3:
5-37249235-G-T
gnomAD v4:
5-37249235-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37249235G>T , CM000667.2:g.37249235G>T | GRCh38 |
| NC_000005.9:g.37249337G>T , CM000667.1:g.37249337G>T | GRCh37 |
| NC_000005.8:g.37285094G>T | NCBI36 |
| NG_032772.1:g.5194C>A | |
| NG_032772.2:g.5194C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651892.2:c.-48+10C>A (CPLANE1) MANE Select | ENSP00000498265.2:n.-48+10C>A | |
| ENST00000675547.1:n.131C>A (CPLANE1) | ||
| ENST00000425232.6:c.-48+10C>A (CPLANE1) | ENSP00000389014.2:n.-48+10C>A | |
| NM_023073.3:c.-48+10C>A (CPLANE1) | NP_075561.3:n.-48+10C>A | |
| XM_005248345.2:c.-48+10C>A (CPLANE1) | XP_005248402.1:n.-48+10C>A | |
| XM_005248346.2:c.-48+10C>A (CPLANE1) | XP_005248403.1:n.-48+10C>A | |
| XM_005248347.2:c.-48+10C>A (CPLANE1) | XP_005248404.1:n.-48+10C>A | |
| XM_005248349.2:c.-48+10C>A (CPLANE1) | XP_005248406.1:n.-48+10C>A | |
| XM_005248350.2:c.-48+10C>A (CPLANE1) | XP_005248407.1:n.-48+10C>A | |
| XM_006714489.2:c.-48+10C>A (CPLANE1) | XP_006714552.1:n.-48+10C>A | |
| XM_011514086.1:c.-81C>A (CPLANE1) | XP_011512388.1:n.-81C>A | |
| XM_011514087.1:c.-48+10C>A (CPLANE1) | XP_011512389.1:n.-48+10C>A | |
| XM_011514088.1:c.-48+10C>A (CPLANE1) | XP_011512390.1:n.-48+10C>A | |
| XM_011514089.1:c.-48+10C>A (CPLANE1) | XP_011512391.1:n.-48+10C>A | |
| XM_011514090.1:c.-285+10C>A (CPLANE1) | XP_011512392.1:n.-285+10C>A | |
| XM_011514092.1:c.-48+10C>A (CPLANE1) | XP_011512394.1:n.-48+10C>A | |
| XM_011514093.1:c.-48+10C>A (CPLANE1) | XP_011512395.1:n.-48+10C>A | |
| XR_427661.2:n.128+10C>A (CPLANE1) | ||
| XR_925644.1:n.128+10C>A (CPLANE1) | ||
| XR_925921.1:n.171+14G>T (CPLANE1-AS1) | ||
| NR_134263.1:n.176+14G>T (CPLANE1-AS1) | ||
| XM_005248345.4:c.-48+10C>A (CPLANE1) | XP_005248402.1:n.-48+10C>A | |
| XM_005248346.4:c.-48+10C>A (CPLANE1) | XP_005248403.1:n.-48+10C>A | |
| XM_005248347.4:c.-48+10C>A (CPLANE1) | XP_005248404.1:n.-48+10C>A | |
| XM_005248349.4:c.-48+10C>A (CPLANE1) | XP_005248406.1:n.-48+10C>A | |
| XM_005248350.4:c.-48+10C>A (CPLANE1) | XP_005248407.1:n.-48+10C>A | |
| XM_011514086.3:c.-81C>A (CPLANE1) | XP_011512388.1:n.-81C>A | |
| XM_011514087.2:c.-48+10C>A (CPLANE1) | XP_011512389.1:n.-48+10C>A | |
| XM_011514088.2:c.-48+10C>A (CPLANE1) | XP_011512390.1:n.-48+10C>A | |
| XM_011514089.2:c.-48+10C>A (CPLANE1) | XP_011512391.1:n.-48+10C>A | |
| XM_011514090.3:c.-285+10C>A (CPLANE1) | XP_011512392.1:n.-285+10C>A | |
| XM_011514092.2:c.-48+10C>A (CPLANE1) | XP_011512394.1:n.-48+10C>A | |
| XM_017009761.2:c.-20+10C>A (CPLANE1) | XP_016865250.1:n.-20+10C>A | |
| XM_017009765.1:c.-979+10C>A (CPLANE1) | XP_016865254.1:n.-979+10C>A | |
| XM_024446184.1:c.-318C>A (CPLANE1) | XP_024301952.1:n.-318C>A | |
| XM_024446185.1:c.-565C>A (CPLANE1) | XP_024301953.1:n.-565C>A | |
| XM_024446186.1:c.-1046+10C>A (CPLANE1) | XP_024301954.1:n.-1046+10C>A | |
| XR_001742208.1:n.177+10C>A (CPLANE1) | ||
| XR_002956171.1:n.177+10C>A (CPLANE1) | ||
| XR_925644.2:n.177+10C>A (CPLANE1) | ||
| NM_001384732.1:c.-48+10C>A (CPLANE1) MANE Select | NP_001371661.1:n.-48+10C>A | |
| NM_023073.4:c.-48+10C>A (CPLANE1) | NP_075561.3:n.-48+10C>A |