Canonical Allele Identifier: CA377640578
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94293549G>T , CM000672.2:g.94293549G>T GRCh38
NC_000010.10:g.96053306G>T , CM000672.1:g.96053306G>T GRCh37
NC_000010.9:g.96043296G>T NCBI36
NG_015799.1:g.304561G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4153G>T ENSP00000360426.1:p.Glu1385Ter
ENST00000685253.1:c.*1620G>T ENSP00000509405.1:n.*1620G>T
ENST00000685889.1:n.1812G>T
ENST00000686807.1:n.496G>T
ENST00000686954.1:c.*361G>T ENSP00000508416.1:n.*361G>T
ENST00000688810.1:c.4105G>T ENSP00000509140.1:p.Glu1369Ter
ENST00000689233.1:n.9285G>T
ENST00000690340.1:n.2750G>T
ENST00000692286.1:c.5036-4830G>T ENSP00000509490.1:n.5036-4830G>T
ENST00000692396.1:c.5029G>T ENSP00000508605.1:p.Glu1677Ter
ENST00000371380.8:c.5077G>T MANE Select ENSP00000360431.2:p.Glu1693Ter
ENST00000371385.8:c.4051G>T ENSP00000360438.4:p.Glu1351Ter
ENST00000674738.1:c.3632G>T
ENST00000674827.1:c.3193G>T ENSP00000502523.1:p.Glu1065Ter
ENST00000675218.1:c.4153G>T ENSP00000501910.1:p.Glu1385Ter
ENST00000675487.1:c.*1010G>T ENSP00000502340.1:n.*1010G>T
ENST00000675718.1:c.4346G>T
ENST00000676102.1:c.3922G>T ENSP00000502811.1:p.Glu1308Ter
ENST00000260766.7:c.5077G>T ENSP00000260766.3:p.Glu1693Ter
ENST00000371375.1:c.4153G>T ENSP00000360426.1:p.Glu1385Ter
ENST00000371380.7:c.5077G>T ENSP00000360431.2:p.Glu1693Ter
ENST00000371385.7:c.4153G>T ENSP00000360438.3:p.Glu1385Ter
NM_001165979.2:c.4153G>T NP_001159451.1:p.Glu1385Ter
NM_001288989.1:c.5029G>T NP_001275918.1:p.Glu1677Ter
NM_016341.3:c.5077G>T NP_057425.3:p.Glu1693Ter
XM_006717885.2:c.5119G>T XP_006717948.1:p.Glu1707Ter
XM_006717886.2:c.5119G>T XP_006717949.1:p.Glu1707Ter
XM_006717888.2:c.5116G>T XP_006717951.1:p.Glu1706Ter
XM_006717889.2:c.5071G>T XP_006717952.1:p.Glu1691Ter
XM_006717890.1:c.4195G>T XP_006717953.1:p.Glu1399Ter
XM_011539849.1:c.5119G>T XP_011538151.1:p.Glu1707Ter
XM_011539850.1:c.3964G>T XP_011538152.1:p.Glu1322Ter
XM_006717885.4:c.5119G>T XP_006717948.1:p.Glu1707Ter
XM_006717888.4:c.5116G>T XP_006717951.1:p.Glu1706Ter
XM_006717889.4:c.5071G>T XP_006717952.1:p.Glu1691Ter
XM_006717890.3:c.4195G>T XP_006717953.1:p.Glu1399Ter
XM_011539849.3:c.5119G>T XP_011538151.1:p.Glu1707Ter
XM_011539850.3:c.3964G>T XP_011538152.1:p.Glu1322Ter
XM_017016310.2:c.5119G>T XP_016871799.1:p.Glu1707Ter
XM_017016311.2:c.5119G>T XP_016871800.1:p.Glu1707Ter
XM_017016312.2:c.4105G>T XP_016871801.1:p.Glu1369Ter
NM_001288989.2:c.5029G>T NP_001275918.1:p.Glu1677Ter
NM_016341.4:c.5077G>T MANE Select NP_057425.3:p.Glu1693Ter