Linked Data
ClinVar Variation Id:
904704
ClinVar RCV Id:
RCV001152764
dbSNP Id:
rs910545554
gnomAD v3:
5-37249274-G-A
gnomAD v4:
5-37249274-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37249274G>A , CM000667.2:g.37249274G>A | GRCh38 |
| NC_000005.9:g.37249376G>A , CM000667.1:g.37249376G>A | GRCh37 |
| NC_000005.8:g.37285133G>A | NCBI36 |
| NG_032772.1:g.5155C>T | |
| NG_032772.2:g.5155C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651892.2:c.-77C>T (CPLANE1) MANE Select | ENSP00000498265.2:n.-77C>T | |
| ENST00000675547.1:n.92C>T (CPLANE1) | ||
| ENST00000425232.6:c.-77C>T (CPLANE1) | ENSP00000389014.2:n.-77C>T | |
| NM_023073.3:c.-77C>T (CPLANE1) | NP_075561.3:n.-77C>T | |
| XM_005248345.2:c.-77C>T (CPLANE1) | XP_005248402.1:n.-77C>T | |
| XM_005248346.2:c.-77C>T (CPLANE1) | XP_005248403.1:n.-77C>T | |
| XM_005248347.2:c.-77C>T (CPLANE1) | XP_005248404.1:n.-77C>T | |
| XM_005248349.2:c.-77C>T (CPLANE1) | XP_005248406.1:n.-77C>T | |
| XM_005248350.2:c.-77C>T (CPLANE1) | XP_005248407.1:n.-77C>T | |
| XM_006714489.2:c.-77C>T (CPLANE1) | XP_006714552.1:n.-77C>T | |
| XM_011514086.1:c.-120C>T (CPLANE1) | XP_011512388.1:n.-120C>T | |
| XM_011514087.1:c.-77C>T (CPLANE1) | XP_011512389.1:n.-77C>T | |
| XM_011514088.1:c.-77C>T (CPLANE1) | XP_011512390.1:n.-77C>T | |
| XM_011514089.1:c.-77C>T (CPLANE1) | XP_011512391.1:n.-77C>T | |
| XM_011514090.1:c.-314C>T (CPLANE1) | XP_011512392.1:n.-314C>T | |
| XM_011514092.1:c.-77C>T (CPLANE1) | XP_011512394.1:n.-77C>T | |
| XM_011514093.1:c.-77C>T (CPLANE1) | XP_011512395.1:n.-77C>T | |
| XR_427661.2:n.99C>T (CPLANE1) | ||
| XR_925644.1:n.99C>T (CPLANE1) | ||
| XR_925921.1:n.171+53G>A (CPLANE1-AS1) | ||
| NR_134263.1:n.176+53G>A (CPLANE1-AS1) | ||
| XM_005248345.4:c.-77C>T (CPLANE1) | XP_005248402.1:n.-77C>T | |
| XM_005248346.4:c.-77C>T (CPLANE1) | XP_005248403.1:n.-77C>T | |
| XM_005248347.4:c.-77C>T (CPLANE1) | XP_005248404.1:n.-77C>T | |
| XM_005248349.4:c.-77C>T (CPLANE1) | XP_005248406.1:n.-77C>T | |
| XM_005248350.4:c.-77C>T (CPLANE1) | XP_005248407.1:n.-77C>T | |
| XM_011514086.3:c.-120C>T (CPLANE1) | XP_011512388.1:n.-120C>T | |
| XM_011514087.2:c.-77C>T (CPLANE1) | XP_011512389.1:n.-77C>T | |
| XM_011514088.2:c.-77C>T (CPLANE1) | XP_011512390.1:n.-77C>T | |
| XM_011514089.2:c.-77C>T (CPLANE1) | XP_011512391.1:n.-77C>T | |
| XM_011514090.3:c.-314C>T (CPLANE1) | XP_011512392.1:n.-314C>T | |
| XM_011514092.2:c.-77C>T (CPLANE1) | XP_011512394.1:n.-77C>T | |
| XM_017009761.2:c.-49C>T (CPLANE1) | XP_016865250.1:n.-49C>T | |
| XM_017009765.1:c.-1008C>T (CPLANE1) | XP_016865254.1:n.-1008C>T | |
| XM_024446184.1:c.-357C>T (CPLANE1) | XP_024301952.1:n.-357C>T | |
| XM_024446185.1:c.-604C>T (CPLANE1) | XP_024301953.1:n.-604C>T | |
| XM_024446186.1:c.-1075C>T (CPLANE1) | XP_024301954.1:n.-1075C>T | |
| XR_001742208.1:n.148C>T (CPLANE1) | ||
| XR_002956171.1:n.148C>T (CPLANE1) | ||
| XR_925644.2:n.148C>T (CPLANE1) | ||
| NM_001384732.1:c.-77C>T (CPLANE1) MANE Select | NP_001371661.1:n.-77C>T | |
| NM_023073.4:c.-77C>T (CPLANE1) | NP_075561.3:n.-77C>T |