Canonical Allele Identifier: CA377640671
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94293568C>T , CM000672.2:g.94293568C>T GRCh38
NC_000010.10:g.96053325C>T , CM000672.1:g.96053325C>T GRCh37
NC_000010.9:g.96043315C>T NCBI36
NG_015799.1:g.304580C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4172C>T ENSP00000360426.1:p.Ser1391Phe
ENST00000685253.1:c.*1639C>T ENSP00000509405.1:n.*1639C>T
ENST00000685889.1:n.1831C>T
ENST00000686807.1:n.515C>T
ENST00000686954.1:c.*380C>T ENSP00000508416.1:n.*380C>T
ENST00000688810.1:c.4124C>T ENSP00000509140.1:p.Ser1375Phe
ENST00000689233.1:n.9304C>T
ENST00000690340.1:n.2769C>T
ENST00000692286.1:c.5036-4811C>T ENSP00000509490.1:n.5036-4811C>T
ENST00000692396.1:c.5048C>T ENSP00000508605.1:p.Ser1683Phe
ENST00000371380.8:c.5096C>T MANE Select ENSP00000360431.2:p.Ser1699Phe
ENST00000371385.8:c.4070C>T ENSP00000360438.4:p.Ser1357Phe
ENST00000674738.1:c.3651C>T
ENST00000674827.1:c.3212C>T ENSP00000502523.1:p.Ser1071Phe
ENST00000675218.1:c.4172C>T ENSP00000501910.1:p.Ser1391Phe
ENST00000675487.1:c.*1029C>T ENSP00000502340.1:n.*1029C>T
ENST00000675718.1:c.4365C>T
ENST00000676102.1:c.3941C>T ENSP00000502811.1:p.Ser1314Phe
ENST00000260766.7:c.5096C>T ENSP00000260766.3:p.Ser1699Phe
ENST00000371375.1:c.4172C>T ENSP00000360426.1:p.Ser1391Phe
ENST00000371380.7:c.5096C>T ENSP00000360431.2:p.Ser1699Phe
ENST00000371385.7:c.4172C>T ENSP00000360438.3:p.Ser1391Phe
NM_001165979.2:c.4172C>T NP_001159451.1:p.Ser1391Phe
NM_001288989.1:c.5048C>T NP_001275918.1:p.Ser1683Phe
NM_016341.3:c.5096C>T NP_057425.3:p.Ser1699Phe
XM_006717885.2:c.5138C>T XP_006717948.1:p.Ser1713Phe
XM_006717886.2:c.5138C>T XP_006717949.1:p.Ser1713Phe
XM_006717888.2:c.5135C>T XP_006717951.1:p.Ser1712Phe
XM_006717889.2:c.5090C>T XP_006717952.1:p.Ser1697Phe
XM_006717890.1:c.4214C>T XP_006717953.1:p.Ser1405Phe
XM_011539849.1:c.5138C>T XP_011538151.1:p.Ser1713Phe
XM_011539850.1:c.3983C>T XP_011538152.1:p.Ser1328Phe
XM_006717885.4:c.5138C>T XP_006717948.1:p.Ser1713Phe
XM_006717888.4:c.5135C>T XP_006717951.1:p.Ser1712Phe
XM_006717889.4:c.5090C>T XP_006717952.1:p.Ser1697Phe
XM_006717890.3:c.4214C>T XP_006717953.1:p.Ser1405Phe
XM_011539849.3:c.5138C>T XP_011538151.1:p.Ser1713Phe
XM_011539850.3:c.3983C>T XP_011538152.1:p.Ser1328Phe
XM_017016310.2:c.5138C>T XP_016871799.1:p.Ser1713Phe
XM_017016311.2:c.5138C>T XP_016871800.1:p.Ser1713Phe
XM_017016312.2:c.4124C>T XP_016871801.1:p.Ser1375Phe
NM_001288989.2:c.5048C>T NP_001275918.1:p.Ser1683Phe
NM_016341.4:c.5096C>T MANE Select NP_057425.3:p.Ser1699Phe