Linked Data
ClinVar Variation Id:
501892
ClinVar RCV Id:
RCV001105758
dbSNP Id:
rs2274224
ExAC:
10:96039597 G / A
gnomAD v2:
10-96039597-G-A
gnomAD v3:
10-94279840-G-A
gnomAD v4:
10-94279840-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94279840G>A , CM000672.2:g.94279840G>A | GRCh38 |
| NC_000010.10:g.96039597G>A , CM000672.1:g.96039597G>A | GRCh37 |
| NC_000010.9:g.96029587G>A | NCBI36 |
| NG_015799.1:g.290852G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.3800G>A (PLCE1) | ENSP00000360426.1:p.Arg1267Gln | |
| ENST00000685253.1:c.*1267G>A (PLCE1) | ENSP00000509405.1:n.*1267G>A | |
| ENST00000685889.1:n.1459G>A (PLCE1) | ||
| ENST00000686954.1:c.4724G>A (PLCE1) | ENSP00000508416.1:p.Arg1575Gln | |
| ENST00000688810.1:c.3752G>A (PLCE1) | ENSP00000509140.1:p.Arg1251Gln | |
| ENST00000689233.1:n.5054G>A (PLCE1) | ||
| ENST00000692286.1:c.4724G>A (PLCE1) | ENSP00000509490.1:p.Arg1575Gln | |
| ENST00000692396.1:c.4676G>A (PLCE1) | ENSP00000508605.1:p.Arg1559Gln | |
| ENST00000371380.8:c.4724G>A (PLCE1) MANE Select | ENSP00000360431.2:p.Arg1575Gln | |
| ENST00000371385.8:c.3698G>A (PLCE1) | ENSP00000360438.4:p.Arg1233Gln | |
| ENST00000674738.1:c.3129G>A (PLCE1) | ||
| ENST00000674827.1:c.2801G>A (PLCE1) | ENSP00000502523.1:p.Arg934Gln | |
| ENST00000675218.1:c.3800G>A (PLCE1) | ENSP00000501910.1:p.Arg1267Gln | |
| ENST00000675487.1:c.*657G>A (PLCE1) | ENSP00000502340.1:n.*657G>A | |
| ENST00000675718.1:c.3951G>A (PLCE1) | ||
| ENST00000676102.1:c.3569G>A (PLCE1) | ENSP00000502811.1:p.Arg1190Gln | |
| ENST00000260766.7:c.4724G>A (PLCE1) | ENSP00000260766.3:p.Arg1575Gln | |
| ENST00000371375.1:c.3800G>A (PLCE1) | ENSP00000360426.1:p.Arg1267Gln | |
| ENST00000371380.7:c.4724G>A (PLCE1) | ENSP00000360431.2:p.Arg1575Gln | |
| ENST00000371385.7:c.3800G>A (PLCE1) | ENSP00000360438.3:p.Arg1267Gln | |
| NM_001165979.2:c.3800G>A (PLCE1) | NP_001159451.1:p.Arg1267Gln | |
| NM_001288989.1:c.4676G>A (PLCE1) | NP_001275918.1:p.Arg1559Gln | |
| NM_016341.3:c.4724G>A (PLCE1) | NP_057425.3:p.Arg1575Gln | |
| NR_033969.1:n.858C>T (PLCE1-AS1) | ||
| XM_006717885.2:c.4724G>A (PLCE1) | XP_006717948.1:p.Arg1575Gln | |
| XM_006717886.2:c.4724G>A (PLCE1) | XP_006717949.1:p.Arg1575Gln | |
| XM_006717888.2:c.4724G>A (PLCE1) | XP_006717951.1:p.Arg1575Gln | |
| XM_006717889.2:c.4676G>A (PLCE1) | XP_006717952.1:p.Arg1559Gln | |
| XM_006717890.1:c.3800G>A (PLCE1) | XP_006717953.1:p.Arg1267Gln | |
| XM_011539849.1:c.4724G>A (PLCE1) | XP_011538151.1:p.Arg1575Gln | |
| XM_011539850.1:c.3569G>A (PLCE1) | XP_011538152.1:p.Arg1190Gln | |
| XM_011539851.1:c.4724G>A (PLCE1) | XP_011538153.1:p.Arg1575Gln | |
| XM_011539852.1:c.4724G>A (PLCE1) | XP_011538154.1:p.Arg1575Gln | |
| XM_006717885.4:c.4724G>A (PLCE1) | XP_006717948.1:p.Arg1575Gln | |
| XM_006717888.4:c.4724G>A (PLCE1) | XP_006717951.1:p.Arg1575Gln | |
| XM_006717889.4:c.4676G>A (PLCE1) | XP_006717952.1:p.Arg1559Gln | |
| XM_006717890.3:c.3800G>A (PLCE1) | XP_006717953.1:p.Arg1267Gln | |
| XM_011539849.3:c.4724G>A (PLCE1) | XP_011538151.1:p.Arg1575Gln | |
| XM_011539850.3:c.3569G>A (PLCE1) | XP_011538152.1:p.Arg1190Gln | |
| XM_011539851.3:c.4724G>A (PLCE1) | XP_011538153.1:p.Arg1575Gln | |
| XM_011539852.3:c.4724G>A (PLCE1) | XP_011538154.1:p.Arg1575Gln | |
| XM_017016310.2:c.4724G>A (PLCE1) | XP_016871799.1:p.Arg1575Gln | |
| XM_017016311.2:c.4724G>A (PLCE1) | XP_016871800.1:p.Arg1575Gln | |
| XM_017016312.2:c.3752G>A (PLCE1) | XP_016871801.1:p.Arg1251Gln | |
| NM_001288989.2:c.4676G>A (PLCE1) | NP_001275918.1:p.Arg1559Gln | |
| NM_016341.4:c.4724G>A (PLCE1) MANE Select | NP_057425.3:p.Arg1575Gln |