Canonical Allele Identifier: CA377642038
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298560G>C , CM000672.2:g.94298560G>C GRCh38
NC_000010.10:g.96058317G>C , CM000672.1:g.96058317G>C GRCh37
NC_000010.9:g.96048307G>C NCBI36
NG_015799.1:g.309572G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4425G>C ENSP00000360426.1:p.Gln1475His
ENST00000685253.1:c.*1892G>C ENSP00000509405.1:n.*1892G>C
ENST00000685889.1:n.2084G>C
ENST00000686807.1:n.768G>C
ENST00000686954.1:c.*633G>C ENSP00000508416.1:n.*633G>C
ENST00000688810.1:c.4377G>C ENSP00000509140.1:p.Gln1459His
ENST00000689233.1:n.9557G>C
ENST00000690340.1:n.3022G>C
ENST00000692286.1:c.5217G>C ENSP00000509490.1:p.Gln1739His
ENST00000692396.1:c.5301G>C ENSP00000508605.1:p.Gln1767His
ENST00000371380.8:c.5349G>C MANE Select ENSP00000360431.2:p.Gln1783His
ENST00000371385.8:c.4323G>C ENSP00000360438.4:p.Gln1441His
ENST00000674738.1:c.3904G>C
ENST00000674827.1:c.3465G>C ENSP00000502523.1:p.Gln1155His
ENST00000675218.1:c.4425G>C ENSP00000501910.1:p.Gln1475His
ENST00000675487.1:c.*1282G>C ENSP00000502340.1:n.*1282G>C
ENST00000675718.1:c.4618G>C
ENST00000260766.7:c.5349G>C ENSP00000260766.3:p.Gln1783His
ENST00000371375.1:c.4425G>C ENSP00000360426.1:p.Gln1475His
ENST00000371380.7:c.5349G>C ENSP00000360431.2:p.Gln1783His
ENST00000371385.7:c.4425G>C ENSP00000360438.3:p.Gln1475His
NM_001165979.2:c.4425G>C NP_001159451.1:p.Gln1475His
NM_001288989.1:c.5301G>C NP_001275918.1:p.Gln1767His
NM_016341.3:c.5349G>C NP_057425.3:p.Gln1783His
XM_006717885.2:c.5391G>C XP_006717948.1:p.Gln1797His
XM_006717886.2:c.5391G>C XP_006717949.1:p.Gln1797His
XM_006717888.2:c.5388G>C XP_006717951.1:p.Gln1796His
XM_006717889.2:c.5343G>C XP_006717952.1:p.Gln1781His
XM_006717890.1:c.4467G>C XP_006717953.1:p.Gln1489His
XM_011539849.1:c.5391G>C XP_011538151.1:p.Gln1797His
XM_011539850.1:c.4236G>C XP_011538152.1:p.Gln1412His
XM_006717885.4:c.5391G>C XP_006717948.1:p.Gln1797His
XM_006717888.4:c.5388G>C XP_006717951.1:p.Gln1796His
XM_006717889.4:c.5343G>C XP_006717952.1:p.Gln1781His
XM_006717890.3:c.4467G>C XP_006717953.1:p.Gln1489His
XM_011539849.3:c.5391G>C XP_011538151.1:p.Gln1797His
XM_011539850.3:c.4236G>C XP_011538152.1:p.Gln1412His
XM_017016310.2:c.5391G>C XP_016871799.1:p.Gln1797His
XM_017016311.2:c.5391G>C XP_016871800.1:p.Gln1797His
XM_017016312.2:c.4377G>C XP_016871801.1:p.Gln1459His
NM_001288989.2:c.5301G>C NP_001275918.1:p.Gln1767His
NM_016341.4:c.5349G>C MANE Select NP_057425.3:p.Gln1783His