Canonical Allele Identifier: CA377641669
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298387G>T , CM000672.2:g.94298387G>T GRCh38
NC_000010.10:g.96058144G>T , CM000672.1:g.96058144G>T GRCh37
NC_000010.9:g.96048134G>T NCBI36
NG_015799.1:g.309399G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4252G>T ENSP00000360426.1:p.Glu1418Ter
ENST00000685253.1:c.*1719G>T ENSP00000509405.1:n.*1719G>T
ENST00000685889.1:n.1911G>T
ENST00000686807.1:n.595G>T
ENST00000686954.1:c.*460G>T ENSP00000508416.1:n.*460G>T
ENST00000688810.1:c.4204G>T ENSP00000509140.1:p.Glu1402Ter
ENST00000689233.1:n.9384G>T
ENST00000690340.1:n.2849G>T
ENST00000692286.1:c.5044G>T ENSP00000509490.1:p.Glu1682Ter
ENST00000692396.1:c.5128G>T ENSP00000508605.1:p.Glu1710Ter
ENST00000371380.8:c.5176G>T MANE Select ENSP00000360431.2:p.Glu1726Ter
ENST00000371385.8:c.4150G>T ENSP00000360438.4:p.Glu1384Ter
ENST00000674738.1:c.3731G>T
ENST00000674827.1:c.3292G>T ENSP00000502523.1:p.Glu1098Ter
ENST00000675218.1:c.4252G>T ENSP00000501910.1:p.Glu1418Ter
ENST00000675487.1:c.*1109G>T ENSP00000502340.1:n.*1109G>T
ENST00000675718.1:c.4445G>T
ENST00000676102.1:c.4021G>T ENSP00000502811.1:p.Glu1341Ter
ENST00000260766.7:c.5176G>T ENSP00000260766.3:p.Glu1726Ter
ENST00000371375.1:c.4252G>T ENSP00000360426.1:p.Glu1418Ter
ENST00000371380.7:c.5176G>T ENSP00000360431.2:p.Glu1726Ter
ENST00000371385.7:c.4252G>T ENSP00000360438.3:p.Glu1418Ter
NM_001165979.2:c.4252G>T NP_001159451.1:p.Glu1418Ter
NM_001288989.1:c.5128G>T NP_001275918.1:p.Glu1710Ter
NM_016341.3:c.5176G>T NP_057425.3:p.Glu1726Ter
XM_006717885.2:c.5218G>T XP_006717948.1:p.Glu1740Ter
XM_006717886.2:c.5218G>T XP_006717949.1:p.Glu1740Ter
XM_006717888.2:c.5215G>T XP_006717951.1:p.Glu1739Ter
XM_006717889.2:c.5170G>T XP_006717952.1:p.Glu1724Ter
XM_006717890.1:c.4294G>T XP_006717953.1:p.Glu1432Ter
XM_011539849.1:c.5218G>T XP_011538151.1:p.Glu1740Ter
XM_011539850.1:c.4063G>T XP_011538152.1:p.Glu1355Ter
XM_006717885.4:c.5218G>T XP_006717948.1:p.Glu1740Ter
XM_006717888.4:c.5215G>T XP_006717951.1:p.Glu1739Ter
XM_006717889.4:c.5170G>T XP_006717952.1:p.Glu1724Ter
XM_006717890.3:c.4294G>T XP_006717953.1:p.Glu1432Ter
XM_011539849.3:c.5218G>T XP_011538151.1:p.Glu1740Ter
XM_011539850.3:c.4063G>T XP_011538152.1:p.Glu1355Ter
XM_017016310.2:c.5218G>T XP_016871799.1:p.Glu1740Ter
XM_017016311.2:c.5218G>T XP_016871800.1:p.Glu1740Ter
XM_017016312.2:c.4204G>T XP_016871801.1:p.Glu1402Ter
NM_001288989.2:c.5128G>T NP_001275918.1:p.Glu1710Ter
NM_016341.4:c.5176G>T MANE Select NP_057425.3:p.Glu1726Ter