Linked Data
ClinVar Variation Id:
260730
dbSNP Id:
rs75283731
ExAC:
10:96076526 G / A
gnomAD v2:
10-96076526-G-A
gnomAD v3:
10-94316769-G-A
gnomAD v4:
10-94316769-G-A
COSMIC:
COSN5263845
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94316769G>A , CM000672.2:g.94316769G>A | GRCh38 |
| NC_000010.10:g.96076526G>A , CM000672.1:g.96076526G>A | GRCh37 |
| NC_000010.9:g.96066516G>A | NCBI36 |
| NG_015799.1:g.327781G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.5418+13G>A (PLCE1) | ENSP00000360426.1:n.5418+13G>A | |
| ENST00000685132.1:n.3741+3387G>A (PLCE1) | ||
| ENST00000685253.1:c.*2885+13G>A (PLCE1) | ENSP00000509405.1:n.*2885+13G>A | |
| ENST00000685889.1:n.3077+13G>A (PLCE1) | ||
| ENST00000686807.1:n.1761+13G>A (PLCE1) | ||
| ENST00000686954.1:c.*1626+13G>A (PLCE1) | ENSP00000508416.1:n.*1626+13G>A | |
| ENST00000688810.1:c.5370+13G>A (PLCE1) | ENSP00000509140.1:n.5370+13G>A | |
| ENST00000689233.1:n.10550+13G>A (PLCE1) | ||
| ENST00000690340.1:n.4015+13G>A (PLCE1) | ||
| ENST00000692286.1:c.6210+13G>A (PLCE1) | ENSP00000509490.1:n.6210+13G>A | |
| ENST00000692396.1:c.6294+13G>A (PLCE1) | ENSP00000508605.1:n.6294+13G>A | |
| ENST00000371380.8:c.6342+13G>A (PLCE1) MANE Select | ENSP00000360431.2:n.6342+13G>A | |
| ENST00000371385.8:c.5316+13G>A (PLCE1) | ENSP00000360438.4:n.5316+13G>A | |
| ENST00000674738.1:c.4897+13G>A (PLCE1) | ||
| ENST00000674827.1:c.4458+13G>A (PLCE1) | ENSP00000502523.1:n.4458+13G>A | |
| ENST00000675218.1:c.5418+13G>A (PLCE1) | ENSP00000501910.1:n.5418+13G>A | |
| ENST00000675487.1:c.*2275+13G>A (PLCE1) | ENSP00000502340.1:n.*2275+13G>A | |
| ENST00000675718.1:c.5611+13G>A (PLCE1) | ||
| ENST00000260766.7:c.6342+13G>A (PLCE1) | ENSP00000260766.3:n.6342+13G>A | |
| ENST00000371375.1:c.5418+13G>A (PLCE1) | ENSP00000360426.1:n.5418+13G>A | |
| ENST00000371380.7:c.6342+13G>A (PLCE1) | ENSP00000360431.2:n.6342+13G>A | |
| ENST00000371385.7:c.5418+13G>A (PLCE1) | ENSP00000360438.3:n.5418+13G>A | |
| NM_001165979.2:c.5418+13G>A (PLCE1) | NP_001159451.1:n.5418+13G>A | |
| NM_001288989.1:c.6294+13G>A (PLCE1) | NP_001275918.1:n.6294+13G>A | |
| NM_016341.3:c.6342+13G>A (PLCE1) | NP_057425.3:n.6342+13G>A | |
| XM_006717885.2:c.6384+13G>A (PLCE1) | XP_006717948.1:n.6384+13G>A | |
| XM_006717886.2:c.6384+13G>A (PLCE1) | XP_006717949.1:n.6384+13G>A | |
| XM_006717888.2:c.6381+13G>A (PLCE1) | XP_006717951.1:n.6381+13G>A | |
| XM_006717889.2:c.6336+13G>A (PLCE1) | XP_006717952.1:n.6336+13G>A | |
| XM_006717890.1:c.5460+13G>A (PLCE1) | XP_006717953.1:n.5460+13G>A | |
| XM_011539849.1:c.6384+13G>A (PLCE1) | XP_011538151.1:n.6384+13G>A | |
| XM_011539850.1:c.5229+13G>A (PLCE1) | XP_011538152.1:n.5229+13G>A | |
| XR_945799.1:n.3311-1305C>T (NOC3L) | ||
| XM_006717885.4:c.6384+13G>A (PLCE1) | XP_006717948.1:n.6384+13G>A | |
| XM_006717888.4:c.6381+13G>A (PLCE1) | XP_006717951.1:n.6381+13G>A | |
| XM_006717889.4:c.6336+13G>A (PLCE1) | XP_006717952.1:n.6336+13G>A | |
| XM_006717890.3:c.5460+13G>A (PLCE1) | XP_006717953.1:n.5460+13G>A | |
| XM_011539849.3:c.6384+13G>A (PLCE1) | XP_011538151.1:n.6384+13G>A | |
| XM_011539850.3:c.5229+13G>A (PLCE1) | XP_011538152.1:n.5229+13G>A | |
| XM_017016310.2:c.6384+13G>A (PLCE1) | XP_016871799.1:n.6384+13G>A | |
| XM_017016311.2:c.6384+13G>A (PLCE1) | XP_016871800.1:n.6384+13G>A | |
| XM_017016312.2:c.5370+13G>A (PLCE1) | XP_016871801.1:n.5370+13G>A | |
| XR_002957007.1:n.3312-1305C>T (NOC3L) | ||
| NM_001288989.2:c.6294+13G>A (PLCE1) | NP_001275918.1:n.6294+13G>A | |
| NM_016341.4:c.6342+13G>A (PLCE1) MANE Select | NP_057425.3:n.6342+13G>A |