Canonical Allele Identifier: CA377648354
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94270510A>C , CM000672.2:g.94270510A>C GRCh38
NC_000010.10:g.96030267A>C , CM000672.1:g.96030267A>C GRCh37
NC_000010.9:g.96020257A>C NCBI36
NG_015799.1:g.281522A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.3490A>C ENSP00000360426.1:p.Ser1164Arg
ENST00000685253.1:c.*957A>C ENSP00000509405.1:n.*957A>C
ENST00000685889.1:n.1149A>C
ENST00000686954.1:c.4414A>C ENSP00000508416.1:p.Ser1472Arg
ENST00000688810.1:c.3442A>C ENSP00000509140.1:p.Ser1148Arg
ENST00000689233.1:n.4744A>C
ENST00000692286.1:c.4414A>C ENSP00000509490.1:p.Ser1472Arg
ENST00000692396.1:c.4366A>C ENSP00000508605.1:p.Ser1456Arg
ENST00000371380.8:c.4414A>C MANE Select ENSP00000360431.2:p.Ser1472Arg
ENST00000371385.8:c.3388A>C ENSP00000360438.4:p.Ser1130Arg
ENST00000674738.1:c.2819A>C
ENST00000674827.1:c.2491A>C ENSP00000502523.1:p.Ser831Arg
ENST00000675218.1:c.3490A>C ENSP00000501910.1:p.Ser1164Arg
ENST00000675487.1:c.*347A>C ENSP00000502340.1:n.*347A>C
ENST00000675718.1:c.3641A>C
ENST00000676102.1:c.3259A>C ENSP00000502811.1:p.Ser1087Arg
ENST00000260766.7:c.4414A>C ENSP00000260766.3:p.Ser1472Arg
ENST00000371375.1:c.3490A>C ENSP00000360426.1:p.Ser1164Arg
ENST00000371380.7:c.4414A>C ENSP00000360431.2:p.Ser1472Arg
ENST00000371385.7:c.3490A>C ENSP00000360438.3:p.Ser1164Arg
NM_001165979.2:c.3490A>C NP_001159451.1:p.Ser1164Arg
NM_001288989.1:c.4366A>C NP_001275918.1:p.Ser1456Arg
NM_016341.3:c.4414A>C NP_057425.3:p.Ser1472Arg
XM_006717885.2:c.4414A>C XP_006717948.1:p.Ser1472Arg
XM_006717886.2:c.4414A>C XP_006717949.1:p.Ser1472Arg
XM_006717888.2:c.4414A>C XP_006717951.1:p.Ser1472Arg
XM_006717889.2:c.4366A>C XP_006717952.1:p.Ser1456Arg
XM_006717890.1:c.3490A>C XP_006717953.1:p.Ser1164Arg
XM_011539849.1:c.4414A>C XP_011538151.1:p.Ser1472Arg
XM_011539850.1:c.3259A>C XP_011538152.1:p.Ser1087Arg
XM_011539851.1:c.4414A>C XP_011538153.1:p.Ser1472Arg
XM_011539852.1:c.4414A>C XP_011538154.1:p.Ser1472Arg
XM_006717885.4:c.4414A>C XP_006717948.1:p.Ser1472Arg
XM_006717888.4:c.4414A>C XP_006717951.1:p.Ser1472Arg
XM_006717889.4:c.4366A>C XP_006717952.1:p.Ser1456Arg
XM_006717890.3:c.3490A>C XP_006717953.1:p.Ser1164Arg
XM_011539849.3:c.4414A>C XP_011538151.1:p.Ser1472Arg
XM_011539850.3:c.3259A>C XP_011538152.1:p.Ser1087Arg
XM_011539851.3:c.4414A>C XP_011538153.1:p.Ser1472Arg
XM_011539852.3:c.4414A>C XP_011538154.1:p.Ser1472Arg
XM_017016310.2:c.4414A>C XP_016871799.1:p.Ser1472Arg
XM_017016311.2:c.4414A>C XP_016871800.1:p.Ser1472Arg
XM_017016312.2:c.3442A>C XP_016871801.1:p.Ser1148Arg
NM_001288989.2:c.4366A>C NP_001275918.1:p.Ser1456Arg
NM_016341.4:c.4414A>C MANE Select NP_057425.3:p.Ser1472Arg