Canonical Allele Identifier: CA377642112
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs2052925451

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298596C>A , CM000672.2:g.94298596C>A GRCh38
NC_000010.10:g.96058353C>A , CM000672.1:g.96058353C>A GRCh37
NC_000010.9:g.96048343C>A NCBI36
NG_015799.1:g.309608C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4461C>A ENSP00000360426.1:p.Asp1487Glu
ENST00000685253.1:c.*1928C>A ENSP00000509405.1:n.*1928C>A
ENST00000685889.1:n.2120C>A
ENST00000686807.1:n.804C>A
ENST00000686954.1:c.*669C>A ENSP00000508416.1:n.*669C>A
ENST00000688810.1:c.4413C>A ENSP00000509140.1:p.Asp1471Glu
ENST00000689233.1:n.9593C>A
ENST00000690340.1:n.3058C>A
ENST00000692286.1:c.5253C>A ENSP00000509490.1:p.Asp1751Glu
ENST00000692396.1:c.5337C>A ENSP00000508605.1:p.Asp1779Glu
ENST00000371380.8:c.5385C>A MANE Select ENSP00000360431.2:p.Asp1795Glu
ENST00000371385.8:c.4359C>A ENSP00000360438.4:p.Asp1453Glu
ENST00000674738.1:c.3940C>A
ENST00000674827.1:c.3501C>A ENSP00000502523.1:p.Asp1167Glu
ENST00000675218.1:c.4461C>A ENSP00000501910.1:p.Asp1487Glu
ENST00000675487.1:c.*1318C>A ENSP00000502340.1:n.*1318C>A
ENST00000675718.1:c.4654C>A
ENST00000260766.7:c.5385C>A ENSP00000260766.3:p.Asp1795Glu
ENST00000371375.1:c.4461C>A ENSP00000360426.1:p.Asp1487Glu
ENST00000371380.7:c.5385C>A ENSP00000360431.2:p.Asp1795Glu
ENST00000371385.7:c.4461C>A ENSP00000360438.3:p.Asp1487Glu
NM_001165979.2:c.4461C>A NP_001159451.1:p.Asp1487Glu
NM_001288989.1:c.5337C>A NP_001275918.1:p.Asp1779Glu
NM_016341.3:c.5385C>A NP_057425.3:p.Asp1795Glu
XM_006717885.2:c.5427C>A XP_006717948.1:p.Asp1809Glu
XM_006717886.2:c.5427C>A XP_006717949.1:p.Asp1809Glu
XM_006717888.2:c.5424C>A XP_006717951.1:p.Asp1808Glu
XM_006717889.2:c.5379C>A XP_006717952.1:p.Asp1793Glu
XM_006717890.1:c.4503C>A XP_006717953.1:p.Asp1501Glu
XM_011539849.1:c.5427C>A XP_011538151.1:p.Asp1809Glu
XM_011539850.1:c.4272C>A XP_011538152.1:p.Asp1424Glu
XM_006717885.4:c.5427C>A XP_006717948.1:p.Asp1809Glu
XM_006717888.4:c.5424C>A XP_006717951.1:p.Asp1808Glu
XM_006717889.4:c.5379C>A XP_006717952.1:p.Asp1793Glu
XM_006717890.3:c.4503C>A XP_006717953.1:p.Asp1501Glu
XM_011539849.3:c.5427C>A XP_011538151.1:p.Asp1809Glu
XM_011539850.3:c.4272C>A XP_011538152.1:p.Asp1424Glu
XM_017016310.2:c.5427C>A XP_016871799.1:p.Asp1809Glu
XM_017016311.2:c.5427C>A XP_016871800.1:p.Asp1809Glu
XM_017016312.2:c.4413C>A XP_016871801.1:p.Asp1471Glu
NM_001288989.2:c.5337C>A NP_001275918.1:p.Asp1779Glu
NM_016341.4:c.5385C>A MANE Select NP_057425.3:p.Asp1795Glu