Canonical Allele Identifier: CA377642053
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5357G>C MANE Select ENSP00000360431.2:p.Arg1786Thr
ENST00000371385.8:c.4331G>C ENSP00000360438.4:p.Arg1444Thr
ENST00000674738.1:n.3912G>C
ENST00000674827.1:n.3473G>C ENSP00000502523.1:p.Arg1158Thr
ENST00000675218.1:n.4433G>C ENSP00000501910.1:p.Arg1478Thr
ENST00000675487.1:c.*1290G>C ENSP00000502340.1:p.=
ENST00000675718.1:n.4626G>C
ENST00000260766.7:c.5357G>C ENSP00000260766.3:p.Arg1786Thr
ENST00000371375.1:n.4433G>C ENSP00000360426.1:p.Arg1478Thr
ENST00000371380.7:c.5357G>C ENSP00000360431.2:p.Arg1786Thr
ENST00000371385.7:c.4433G>C ENSP00000360438.3:p.Arg1478Thr
NM_001165979.2:c.4433G>C NP_001159451.1:p.Arg1478Thr
NM_001288989.1:c.5309G>C NP_001275918.1:p.Arg1770Thr
NM_016341.3:c.5357G>C NP_057425.3:p.Arg1786Thr
XM_006717885.2:c.5399G>C XP_006717948.1:p.Arg1800Thr
XM_006717886.2:c.5399G>C XP_006717949.1:p.Arg1800Thr
XM_006717888.2:c.5396G>C XP_006717951.1:p.Arg1799Thr
XM_006717889.2:c.5351G>C XP_006717952.1:p.Arg1784Thr
XM_006717890.1:c.4475G>C XP_006717953.1:p.Arg1492Thr
XM_011539849.1:c.5399G>C XP_011538151.1:p.Arg1800Thr
XM_011539850.1:c.4244G>C XP_011538152.1:p.Arg1415Thr
XM_006717885.4:c.5399G>C XP_006717948.1:p.Arg1800Thr
XM_006717888.4:c.5396G>C XP_006717951.1:p.Arg1799Thr
XM_006717889.4:c.5351G>C XP_006717952.1:p.Arg1784Thr
XM_006717890.3:c.4475G>C XP_006717953.1:p.Arg1492Thr
XM_011539849.3:c.5399G>C XP_011538151.1:p.Arg1800Thr
XM_011539850.3:c.4244G>C XP_011538152.1:p.Arg1415Thr
XM_017016310.2:c.5399G>C XP_016871799.1:p.Arg1800Thr
XM_017016311.2:c.5399G>C XP_016871800.1:p.Arg1800Thr
XM_017016312.2:c.4385G>C XP_016871801.1:p.Arg1462Thr
NM_001288989.2:c.5309G>C NP_001275918.1:p.Arg1770Thr
NM_016341.4:c.5357G>C MANE Select NP_057425.3:p.Arg1786Thr