Linked Data
ClinVar Variation Id:
2348
ClinVar RCV Id:
RCV000002439
dbSNP Id:
rs121912603
PubMed:
PMID:17086182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94283840C>T , CM000672.2:g.94283840C>T | GRCh38 |
| NC_000010.10:g.96043597C>T , CM000672.1:g.96043597C>T | GRCh37 |
| NC_000010.9:g.96033587C>T | NCBI36 |
| NG_015799.1:g.294852C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.3922C>T (PLCE1) | ENSP00000360426.1:p.Gln1308Ter | |
| ENST00000685253.1:c.*1389C>T (PLCE1) | ENSP00000509405.1:n.*1389C>T | |
| ENST00000685889.1:n.1581C>T (PLCE1) | ||
| ENST00000686954.1:c.*130C>T (PLCE1) | ENSP00000508416.1:n.*130C>T | |
| ENST00000688810.1:c.3874C>T (PLCE1) | ENSP00000509140.1:p.Gln1292Ter | |
| ENST00000689233.1:n.9054C>T (PLCE1) | ||
| ENST00000690340.1:n.2519C>T (PLCE1) | ||
| ENST00000692286.1:c.4846C>T (PLCE1) | ENSP00000509490.1:p.Gln1616Ter | |
| ENST00000692396.1:c.4798C>T (PLCE1) | ENSP00000508605.1:p.Gln1600Ter | |
| ENST00000371380.8:c.4846C>T (PLCE1) MANE Select | ENSP00000360431.2:p.Gln1616Ter | |
| ENST00000371385.8:c.3820C>T (PLCE1) | ENSP00000360438.4:p.Gln1274Ter | |
| ENST00000674738.1:c.3401C>T (PLCE1) | ||
| ENST00000674827.1:c.2962C>T (PLCE1) | ENSP00000502523.1:p.Gln988Ter | |
| ENST00000675218.1:c.3922C>T (PLCE1) | ENSP00000501910.1:p.Gln1308Ter | |
| ENST00000675487.1:c.*779C>T (PLCE1) | ENSP00000502340.1:n.*779C>T | |
| ENST00000675718.1:c.4115C>T (PLCE1) | ||
| ENST00000676102.1:c.3691C>T (PLCE1) | ENSP00000502811.1:p.Gln1231Ter | |
| ENST00000260766.7:c.4846C>T (PLCE1) | ENSP00000260766.3:p.Gln1616Ter | |
| ENST00000371375.1:c.3922C>T (PLCE1) | ENSP00000360426.1:p.Gln1308Ter | |
| ENST00000371380.7:c.4846C>T (PLCE1) | ENSP00000360431.2:p.Gln1616Ter | |
| ENST00000371385.7:c.3922C>T (PLCE1) | ENSP00000360438.3:p.Gln1308Ter | |
| NM_001165979.2:c.3922C>T (PLCE1) | NP_001159451.1:p.Gln1308Ter | |
| NM_001288989.1:c.4798C>T (PLCE1) | NP_001275918.1:p.Gln1600Ter | |
| NM_016341.3:c.4846C>T (PLCE1) | NP_057425.3:p.Gln1616Ter | |
| NR_033969.1:n.231-354G>A (PLCE1-AS1) | ||
| XM_006717885.2:c.4888C>T (PLCE1) | XP_006717948.1:p.Gln1630Ter | |
| XM_006717886.2:c.4888C>T (PLCE1) | XP_006717949.1:p.Gln1630Ter | |
| XM_006717888.2:c.4885C>T (PLCE1) | XP_006717951.1:p.Gln1629Ter | |
| XM_006717889.2:c.4840C>T (PLCE1) | XP_006717952.1:p.Gln1614Ter | |
| XM_006717890.1:c.3964C>T (PLCE1) | XP_006717953.1:p.Gln1322Ter | |
| XM_011539849.1:c.4888C>T (PLCE1) | XP_011538151.1:p.Gln1630Ter | |
| XM_011539850.1:c.3733C>T (PLCE1) | XP_011538152.1:p.Gln1245Ter | |
| XM_006717885.4:c.4888C>T (PLCE1) | XP_006717948.1:p.Gln1630Ter | |
| XM_006717888.4:c.4885C>T (PLCE1) | XP_006717951.1:p.Gln1629Ter | |
| XM_006717889.4:c.4840C>T (PLCE1) | XP_006717952.1:p.Gln1614Ter | |
| XM_006717890.3:c.3964C>T (PLCE1) | XP_006717953.1:p.Gln1322Ter | |
| XM_011539849.3:c.4888C>T (PLCE1) | XP_011538151.1:p.Gln1630Ter | |
| XM_011539850.3:c.3733C>T (PLCE1) | XP_011538152.1:p.Gln1245Ter | |
| XM_017016310.2:c.4888C>T (PLCE1) | XP_016871799.1:p.Gln1630Ter | |
| XM_017016311.2:c.4888C>T (PLCE1) | XP_016871800.1:p.Gln1630Ter | |
| XM_017016312.2:c.3874C>T (PLCE1) | XP_016871801.1:p.Gln1292Ter | |
| NM_001288989.2:c.4798C>T (PLCE1) | NP_001275918.1:p.Gln1600Ter | |
| NM_016341.4:c.4846C>T (PLCE1) MANE Select | NP_057425.3:p.Gln1616Ter |