Canonical Allele Identifier: CA377641822
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298461A>C , CM000672.2:g.94298461A>C GRCh38
NC_000010.10:g.96058218A>C , CM000672.1:g.96058218A>C GRCh37
NC_000010.9:g.96048208A>C NCBI36
NG_015799.1:g.309473A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4326A>C ENSP00000360426.1:p.Arg1442Ser
ENST00000685253.1:c.*1793A>C ENSP00000509405.1:n.*1793A>C
ENST00000685889.1:n.1985A>C
ENST00000686807.1:n.669A>C
ENST00000686954.1:c.*534A>C ENSP00000508416.1:n.*534A>C
ENST00000688810.1:c.4278A>C ENSP00000509140.1:p.Arg1426Ser
ENST00000689233.1:n.9458A>C
ENST00000690340.1:n.2923A>C
ENST00000692286.1:c.5118A>C ENSP00000509490.1:p.Arg1706Ser
ENST00000692396.1:c.5202A>C ENSP00000508605.1:p.Arg1734Ser
ENST00000371380.8:c.5250A>C MANE Select ENSP00000360431.2:p.Arg1750Ser
ENST00000371385.8:c.4224A>C ENSP00000360438.4:p.Arg1408Ser
ENST00000674738.1:c.3805A>C
ENST00000674827.1:c.3366A>C ENSP00000502523.1:p.Arg1122Ser
ENST00000675218.1:c.4326A>C ENSP00000501910.1:p.Arg1442Ser
ENST00000675487.1:c.*1183A>C ENSP00000502340.1:n.*1183A>C
ENST00000675718.1:c.4519A>C
ENST00000676102.1:c.4095A>C ENSP00000502811.1:p.Arg1365Ser
ENST00000260766.7:c.5250A>C ENSP00000260766.3:p.Arg1750Ser
ENST00000371375.1:c.4326A>C ENSP00000360426.1:p.Arg1442Ser
ENST00000371380.7:c.5250A>C ENSP00000360431.2:p.Arg1750Ser
ENST00000371385.7:c.4326A>C ENSP00000360438.3:p.Arg1442Ser
NM_001165979.2:c.4326A>C NP_001159451.1:p.Arg1442Ser
NM_001288989.1:c.5202A>C NP_001275918.1:p.Arg1734Ser
NM_016341.3:c.5250A>C NP_057425.3:p.Arg1750Ser
XM_006717885.2:c.5292A>C XP_006717948.1:p.Arg1764Ser
XM_006717886.2:c.5292A>C XP_006717949.1:p.Arg1764Ser
XM_006717888.2:c.5289A>C XP_006717951.1:p.Arg1763Ser
XM_006717889.2:c.5244A>C XP_006717952.1:p.Arg1748Ser
XM_006717890.1:c.4368A>C XP_006717953.1:p.Arg1456Ser
XM_011539849.1:c.5292A>C XP_011538151.1:p.Arg1764Ser
XM_011539850.1:c.4137A>C XP_011538152.1:p.Arg1379Ser
XM_006717885.4:c.5292A>C XP_006717948.1:p.Arg1764Ser
XM_006717888.4:c.5289A>C XP_006717951.1:p.Arg1763Ser
XM_006717889.4:c.5244A>C XP_006717952.1:p.Arg1748Ser
XM_006717890.3:c.4368A>C XP_006717953.1:p.Arg1456Ser
XM_011539849.3:c.5292A>C XP_011538151.1:p.Arg1764Ser
XM_011539850.3:c.4137A>C XP_011538152.1:p.Arg1379Ser
XM_017016310.2:c.5292A>C XP_016871799.1:p.Arg1764Ser
XM_017016311.2:c.5292A>C XP_016871800.1:p.Arg1764Ser
XM_017016312.2:c.4278A>C XP_016871801.1:p.Arg1426Ser
NM_001288989.2:c.5202A>C NP_001275918.1:p.Arg1734Ser
NM_016341.4:c.5250A>C MANE Select NP_057425.3:p.Arg1750Ser