Canonical Allele Identifier: CA377642054
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298568G>T , CM000672.2:g.94298568G>T GRCh38
NC_000010.10:g.96058325G>T , CM000672.1:g.96058325G>T GRCh37
NC_000010.9:g.96048315G>T NCBI36
NG_015799.1:g.309580G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4433G>T ENSP00000360426.1:p.Arg1478Ile
ENST00000685253.1:c.*1900G>T ENSP00000509405.1:n.*1900G>T
ENST00000685889.1:n.2092G>T
ENST00000686807.1:n.776G>T
ENST00000686954.1:c.*641G>T ENSP00000508416.1:n.*641G>T
ENST00000688810.1:c.4385G>T ENSP00000509140.1:p.Arg1462Ile
ENST00000689233.1:n.9565G>T
ENST00000690340.1:n.3030G>T
ENST00000692286.1:c.5225G>T ENSP00000509490.1:p.Arg1742Ile
ENST00000692396.1:c.5309G>T ENSP00000508605.1:p.Arg1770Ile
ENST00000371380.8:c.5357G>T MANE Select ENSP00000360431.2:p.Arg1786Ile
ENST00000371385.8:c.4331G>T ENSP00000360438.4:p.Arg1444Ile
ENST00000674738.1:c.3912G>T
ENST00000674827.1:c.3473G>T ENSP00000502523.1:p.Arg1158Ile
ENST00000675218.1:c.4433G>T ENSP00000501910.1:p.Arg1478Ile
ENST00000675487.1:c.*1290G>T ENSP00000502340.1:n.*1290G>T
ENST00000675718.1:c.4626G>T
ENST00000260766.7:c.5357G>T ENSP00000260766.3:p.Arg1786Ile
ENST00000371375.1:c.4433G>T ENSP00000360426.1:p.Arg1478Ile
ENST00000371380.7:c.5357G>T ENSP00000360431.2:p.Arg1786Ile
ENST00000371385.7:c.4433G>T ENSP00000360438.3:p.Arg1478Ile
NM_001165979.2:c.4433G>T NP_001159451.1:p.Arg1478Ile
NM_001288989.1:c.5309G>T NP_001275918.1:p.Arg1770Ile
NM_016341.3:c.5357G>T NP_057425.3:p.Arg1786Ile
XM_006717885.2:c.5399G>T XP_006717948.1:p.Arg1800Ile
XM_006717886.2:c.5399G>T XP_006717949.1:p.Arg1800Ile
XM_006717888.2:c.5396G>T XP_006717951.1:p.Arg1799Ile
XM_006717889.2:c.5351G>T XP_006717952.1:p.Arg1784Ile
XM_006717890.1:c.4475G>T XP_006717953.1:p.Arg1492Ile
XM_011539849.1:c.5399G>T XP_011538151.1:p.Arg1800Ile
XM_011539850.1:c.4244G>T XP_011538152.1:p.Arg1415Ile
XM_006717885.4:c.5399G>T XP_006717948.1:p.Arg1800Ile
XM_006717888.4:c.5396G>T XP_006717951.1:p.Arg1799Ile
XM_006717889.4:c.5351G>T XP_006717952.1:p.Arg1784Ile
XM_006717890.3:c.4475G>T XP_006717953.1:p.Arg1492Ile
XM_011539849.3:c.5399G>T XP_011538151.1:p.Arg1800Ile
XM_011539850.3:c.4244G>T XP_011538152.1:p.Arg1415Ile
XM_017016310.2:c.5399G>T XP_016871799.1:p.Arg1800Ile
XM_017016311.2:c.5399G>T XP_016871800.1:p.Arg1800Ile
XM_017016312.2:c.4385G>T XP_016871801.1:p.Arg1462Ile
NM_001288989.2:c.5309G>T NP_001275918.1:p.Arg1770Ile
NM_016341.4:c.5357G>T MANE Select NP_057425.3:p.Arg1786Ile