Canonical Allele Identifier: CA377641820
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298460G>C , CM000672.2:g.94298460G>C GRCh38
NC_000010.10:g.96058217G>C , CM000672.1:g.96058217G>C GRCh37
NC_000010.9:g.96048207G>C NCBI36
NG_015799.1:g.309472G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:n.4325G>C ENSP00000360426.1:p.Arg1442Thr
ENST00000685253.1:c.*1792G>C ENSP00000509405.1:n.*1792G>C
ENST00000685889.1:n.1984G>C
ENST00000686807.1:n.668G>C
ENST00000686954.1:c.*533G>C ENSP00000508416.1:n.*533G>C
ENST00000688810.1:n.4277G>C ENSP00000509140.1:p.Arg1426Thr
ENST00000689233.1:n.9457G>C
ENST00000690340.1:n.2922G>C
ENST00000692286.1:c.5117G>C ENSP00000509490.1:p.Arg1706Thr
ENST00000692396.1:c.5201G>C ENSP00000508605.1:p.Arg1734Thr
ENST00000371380.8:c.5249G>C MANE Select ENSP00000360431.2:p.Arg1750Thr
ENST00000371385.8:c.4223G>C ENSP00000360438.4:p.Arg1408Thr
ENST00000674738.1:n.3804G>C
ENST00000674827.1:n.3365G>C ENSP00000502523.1:p.Arg1122Thr
ENST00000675218.1:n.4325G>C ENSP00000501910.1:p.Arg1442Thr
ENST00000675487.1:c.*1182G>C ENSP00000502340.1:n.*1182G>C
ENST00000675718.1:n.4518G>C
ENST00000676102.1:c.4094G>C ENSP00000502811.1:p.Arg1365Thr
ENST00000260766.7:c.5249G>C ENSP00000260766.3:p.Arg1750Thr
ENST00000371375.1:n.4325G>C ENSP00000360426.1:p.Arg1442Thr
ENST00000371380.7:c.5249G>C ENSP00000360431.2:p.Arg1750Thr
ENST00000371385.7:c.4325G>C ENSP00000360438.3:p.Arg1442Thr
NM_001165979.2:c.4325G>C NP_001159451.1:p.Arg1442Thr
NM_001288989.1:c.5201G>C NP_001275918.1:p.Arg1734Thr
NM_016341.3:c.5249G>C NP_057425.3:p.Arg1750Thr
XM_006717885.2:c.5291G>C XP_006717948.1:p.Arg1764Thr
XM_006717886.2:c.5291G>C XP_006717949.1:p.Arg1764Thr
XM_006717888.2:c.5288G>C XP_006717951.1:p.Arg1763Thr
XM_006717889.2:c.5243G>C XP_006717952.1:p.Arg1748Thr
XM_006717890.1:c.4367G>C XP_006717953.1:p.Arg1456Thr
XM_011539849.1:c.5291G>C XP_011538151.1:p.Arg1764Thr
XM_011539850.1:c.4136G>C XP_011538152.1:p.Arg1379Thr
XM_006717885.4:c.5291G>C XP_006717948.1:p.Arg1764Thr
XM_006717888.4:c.5288G>C XP_006717951.1:p.Arg1763Thr
XM_006717889.4:c.5243G>C XP_006717952.1:p.Arg1748Thr
XM_006717890.3:c.4367G>C XP_006717953.1:p.Arg1456Thr
XM_011539849.3:c.5291G>C XP_011538151.1:p.Arg1764Thr
XM_011539850.3:c.4136G>C XP_011538152.1:p.Arg1379Thr
XM_017016310.2:c.5291G>C XP_016871799.1:p.Arg1764Thr
XM_017016311.2:c.5291G>C XP_016871800.1:p.Arg1764Thr
XM_017016312.2:c.4277G>C XP_016871801.1:p.Arg1426Thr
NM_001288989.2:c.5201G>C NP_001275918.1:p.Arg1734Thr
NM_016341.4:c.5249G>C MANE Select NP_057425.3:p.Arg1750Thr