Canonical Allele Identifier: CA377648265
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94270488A>T , CM000672.2:g.94270488A>T GRCh38
NC_000010.10:g.96030245A>T , CM000672.1:g.96030245A>T GRCh37
NC_000010.9:g.96020235A>T NCBI36
NG_015799.1:g.281500A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.3468A>T ENSP00000360426.1:p.Glu1156Asp
ENST00000685253.1:c.*935A>T ENSP00000509405.1:n.*935A>T
ENST00000685889.1:n.1127A>T
ENST00000686954.1:c.4392A>T ENSP00000508416.1:p.Glu1464Asp
ENST00000688810.1:c.3420A>T ENSP00000509140.1:p.Glu1140Asp
ENST00000689233.1:n.4722A>T
ENST00000692286.1:c.4392A>T ENSP00000509490.1:p.Glu1464Asp
ENST00000692396.1:c.4344A>T ENSP00000508605.1:p.Glu1448Asp
ENST00000371380.8:c.4392A>T MANE Select ENSP00000360431.2:p.Glu1464Asp
ENST00000371385.8:c.3366A>T ENSP00000360438.4:p.Glu1122Asp
ENST00000674738.1:c.2797A>T
ENST00000674827.1:c.2469A>T ENSP00000502523.1:p.Glu823Asp
ENST00000675218.1:c.3468A>T ENSP00000501910.1:p.Glu1156Asp
ENST00000675487.1:c.*325A>T ENSP00000502340.1:n.*325A>T
ENST00000675718.1:c.3619A>T
ENST00000676102.1:c.3237A>T ENSP00000502811.1:p.Glu1079Asp
ENST00000260766.7:c.4392A>T ENSP00000260766.3:p.Glu1464Asp
ENST00000371375.1:c.3468A>T ENSP00000360426.1:p.Glu1156Asp
ENST00000371380.7:c.4392A>T ENSP00000360431.2:p.Glu1464Asp
ENST00000371385.7:c.3468A>T ENSP00000360438.3:p.Glu1156Asp
NM_001165979.2:c.3468A>T NP_001159451.1:p.Glu1156Asp
NM_001288989.1:c.4344A>T NP_001275918.1:p.Glu1448Asp
NM_016341.3:c.4392A>T NP_057425.3:p.Glu1464Asp
XM_006717885.2:c.4392A>T XP_006717948.1:p.Glu1464Asp
XM_006717886.2:c.4392A>T XP_006717949.1:p.Glu1464Asp
XM_006717888.2:c.4392A>T XP_006717951.1:p.Glu1464Asp
XM_006717889.2:c.4344A>T XP_006717952.1:p.Glu1448Asp
XM_006717890.1:c.3468A>T XP_006717953.1:p.Glu1156Asp
XM_011539849.1:c.4392A>T XP_011538151.1:p.Glu1464Asp
XM_011539850.1:c.3237A>T XP_011538152.1:p.Glu1079Asp
XM_011539851.1:c.4392A>T XP_011538153.1:p.Glu1464Asp
XM_011539852.1:c.4392A>T XP_011538154.1:p.Glu1464Asp
XM_006717885.4:c.4392A>T XP_006717948.1:p.Glu1464Asp
XM_006717888.4:c.4392A>T XP_006717951.1:p.Glu1464Asp
XM_006717889.4:c.4344A>T XP_006717952.1:p.Glu1448Asp
XM_006717890.3:c.3468A>T XP_006717953.1:p.Glu1156Asp
XM_011539849.3:c.4392A>T XP_011538151.1:p.Glu1464Asp
XM_011539850.3:c.3237A>T XP_011538152.1:p.Glu1079Asp
XM_011539851.3:c.4392A>T XP_011538153.1:p.Glu1464Asp
XM_011539852.3:c.4392A>T XP_011538154.1:p.Glu1464Asp
XM_017016310.2:c.4392A>T XP_016871799.1:p.Glu1464Asp
XM_017016311.2:c.4392A>T XP_016871800.1:p.Glu1464Asp
XM_017016312.2:c.3420A>T XP_016871801.1:p.Glu1140Asp
NM_001288989.2:c.4344A>T NP_001275918.1:p.Glu1448Asp
NM_016341.4:c.4392A>T MANE Select NP_057425.3:p.Glu1464Asp