Canonical Allele Identifier: CA377641791
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298447A>T , CM000672.2:g.94298447A>T GRCh38
NC_000010.10:g.96058204A>T , CM000672.1:g.96058204A>T GRCh37
NC_000010.9:g.96048194A>T NCBI36
NG_015799.1:g.309459A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4312A>T ENSP00000360426.1:p.Ser1438Cys
ENST00000685253.1:c.*1779A>T ENSP00000509405.1:n.*1779A>T
ENST00000685889.1:n.1971A>T
ENST00000686807.1:n.655A>T
ENST00000686954.1:c.*520A>T ENSP00000508416.1:n.*520A>T
ENST00000688810.1:c.4264A>T ENSP00000509140.1:p.Ser1422Cys
ENST00000689233.1:n.9444A>T
ENST00000690340.1:n.2909A>T
ENST00000692286.1:c.5104A>T ENSP00000509490.1:p.Ser1702Cys
ENST00000692396.1:c.5188A>T ENSP00000508605.1:p.Ser1730Cys
ENST00000371380.8:c.5236A>T MANE Select ENSP00000360431.2:p.Ser1746Cys
ENST00000371385.8:c.4210A>T ENSP00000360438.4:p.Ser1404Cys
ENST00000674738.1:c.3791A>T
ENST00000674827.1:c.3352A>T ENSP00000502523.1:p.Ser1118Cys
ENST00000675218.1:c.4312A>T ENSP00000501910.1:p.Ser1438Cys
ENST00000675487.1:c.*1169A>T ENSP00000502340.1:n.*1169A>T
ENST00000675718.1:c.4505A>T
ENST00000676102.1:c.4081A>T ENSP00000502811.1:p.Ser1361Cys
ENST00000260766.7:c.5236A>T ENSP00000260766.3:p.Ser1746Cys
ENST00000371375.1:c.4312A>T ENSP00000360426.1:p.Ser1438Cys
ENST00000371380.7:c.5236A>T ENSP00000360431.2:p.Ser1746Cys
ENST00000371385.7:c.4312A>T ENSP00000360438.3:p.Ser1438Cys
NM_001165979.2:c.4312A>T NP_001159451.1:p.Ser1438Cys
NM_001288989.1:c.5188A>T NP_001275918.1:p.Ser1730Cys
NM_016341.3:c.5236A>T NP_057425.3:p.Ser1746Cys
XM_006717885.2:c.5278A>T XP_006717948.1:p.Ser1760Cys
XM_006717886.2:c.5278A>T XP_006717949.1:p.Ser1760Cys
XM_006717888.2:c.5275A>T XP_006717951.1:p.Ser1759Cys
XM_006717889.2:c.5230A>T XP_006717952.1:p.Ser1744Cys
XM_006717890.1:c.4354A>T XP_006717953.1:p.Ser1452Cys
XM_011539849.1:c.5278A>T XP_011538151.1:p.Ser1760Cys
XM_011539850.1:c.4123A>T XP_011538152.1:p.Ser1375Cys
XM_006717885.4:c.5278A>T XP_006717948.1:p.Ser1760Cys
XM_006717888.4:c.5275A>T XP_006717951.1:p.Ser1759Cys
XM_006717889.4:c.5230A>T XP_006717952.1:p.Ser1744Cys
XM_006717890.3:c.4354A>T XP_006717953.1:p.Ser1452Cys
XM_011539849.3:c.5278A>T XP_011538151.1:p.Ser1760Cys
XM_011539850.3:c.4123A>T XP_011538152.1:p.Ser1375Cys
XM_017016310.2:c.5278A>T XP_016871799.1:p.Ser1760Cys
XM_017016311.2:c.5278A>T XP_016871800.1:p.Ser1760Cys
XM_017016312.2:c.4264A>T XP_016871801.1:p.Ser1422Cys
NM_001288989.2:c.5188A>T NP_001275918.1:p.Ser1730Cys
NM_016341.4:c.5236A>T MANE Select NP_057425.3:p.Ser1746Cys