Canonical Allele Identifier: CA470813520
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs1349167707

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94270509C>T , CM000672.2:g.94270509C>T GRCh38
NC_000010.10:g.96030266C>T , CM000672.1:g.96030266C>T GRCh37
NC_000010.9:g.96020256C>T NCBI36
NG_015799.1:g.281521C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.3489C>T ENSP00000360426.1:p.Arg1163=
ENST00000685253.1:c.*956C>T ENSP00000509405.1:n.*956C>T
ENST00000685889.1:n.1148C>T
ENST00000686954.1:c.4413C>T ENSP00000508416.1:p.Arg1471=
ENST00000688810.1:c.3441C>T ENSP00000509140.1:p.Arg1147=
ENST00000689233.1:n.4743C>T
ENST00000692286.1:c.4413C>T ENSP00000509490.1:p.Arg1471=
ENST00000692396.1:c.4365C>T ENSP00000508605.1:p.Arg1455=
ENST00000371380.8:c.4413C>T MANE Select ENSP00000360431.2:p.Arg1471=
ENST00000371385.8:c.3387C>T ENSP00000360438.4:p.Arg1129=
ENST00000674738.1:c.2818C>T
ENST00000674827.1:c.2490C>T ENSP00000502523.1:p.Arg830=
ENST00000675218.1:c.3489C>T ENSP00000501910.1:p.Arg1163=
ENST00000675487.1:c.*346C>T ENSP00000502340.1:n.*346C>T
ENST00000675718.1:c.3640C>T
ENST00000676102.1:c.3258C>T ENSP00000502811.1:p.Arg1086=
ENST00000260766.7:c.4413C>T ENSP00000260766.3:p.Arg1471=
ENST00000371375.1:c.3489C>T ENSP00000360426.1:p.Arg1163=
ENST00000371380.7:c.4413C>T ENSP00000360431.2:p.Arg1471=
ENST00000371385.7:c.3489C>T ENSP00000360438.3:p.Arg1163=
NM_001165979.2:c.3489C>T NP_001159451.1:p.Arg1163=
NM_001288989.1:c.4365C>T NP_001275918.1:p.Arg1455=
NM_016341.3:c.4413C>T NP_057425.3:p.Arg1471=
XM_006717885.2:c.4413C>T XP_006717948.1:p.Arg1471=
XM_006717886.2:c.4413C>T XP_006717949.1:p.Arg1471=
XM_006717888.2:c.4413C>T XP_006717951.1:p.Arg1471=
XM_006717889.2:c.4365C>T XP_006717952.1:p.Arg1455=
XM_006717890.1:c.3489C>T XP_006717953.1:p.Arg1163=
XM_011539849.1:c.4413C>T XP_011538151.1:p.Arg1471=
XM_011539850.1:c.3258C>T XP_011538152.1:p.Arg1086=
XM_011539851.1:c.4413C>T XP_011538153.1:p.Arg1471=
XM_011539852.1:c.4413C>T XP_011538154.1:p.Arg1471=
XM_006717885.4:c.4413C>T XP_006717948.1:p.Arg1471=
XM_006717888.4:c.4413C>T XP_006717951.1:p.Arg1471=
XM_006717889.4:c.4365C>T XP_006717952.1:p.Arg1455=
XM_006717890.3:c.3489C>T XP_006717953.1:p.Arg1163=
XM_011539849.3:c.4413C>T XP_011538151.1:p.Arg1471=
XM_011539850.3:c.3258C>T XP_011538152.1:p.Arg1086=
XM_011539851.3:c.4413C>T XP_011538153.1:p.Arg1471=
XM_011539852.3:c.4413C>T XP_011538154.1:p.Arg1471=
XM_017016310.2:c.4413C>T XP_016871799.1:p.Arg1471=
XM_017016311.2:c.4413C>T XP_016871800.1:p.Arg1471=
XM_017016312.2:c.3441C>T XP_016871801.1:p.Arg1147=
NM_001288989.2:c.4365C>T NP_001275918.1:p.Arg1455=
NM_016341.4:c.4413C>T MANE Select NP_057425.3:p.Arg1471=