Canonical Allele Identifier: CA377642124
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298601C>T , CM000672.2:g.94298601C>T GRCh38
NC_000010.10:g.96058358C>T , CM000672.1:g.96058358C>T GRCh37
NC_000010.9:g.96048348C>T NCBI36
NG_015799.1:g.309613C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4466C>T ENSP00000360426.1:p.Ser1489Phe
ENST00000685253.1:c.*1933C>T ENSP00000509405.1:n.*1933C>T
ENST00000685889.1:n.2125C>T
ENST00000686807.1:n.809C>T
ENST00000686954.1:c.*674C>T ENSP00000508416.1:n.*674C>T
ENST00000688810.1:c.4418C>T ENSP00000509140.1:p.Ser1473Phe
ENST00000689233.1:n.9598C>T
ENST00000690340.1:n.3063C>T
ENST00000692286.1:c.5258C>T ENSP00000509490.1:p.Ser1753Phe
ENST00000692396.1:c.5342C>T ENSP00000508605.1:p.Ser1781Phe
ENST00000371380.8:c.5390C>T MANE Select ENSP00000360431.2:p.Ser1797Phe
ENST00000371385.8:c.4364C>T ENSP00000360438.4:p.Ser1455Phe
ENST00000674738.1:c.3945C>T
ENST00000674827.1:c.3506C>T ENSP00000502523.1:p.Ser1169Phe
ENST00000675218.1:c.4466C>T ENSP00000501910.1:p.Ser1489Phe
ENST00000675487.1:c.*1323C>T ENSP00000502340.1:n.*1323C>T
ENST00000675718.1:c.4659C>T
ENST00000260766.7:c.5390C>T ENSP00000260766.3:p.Ser1797Phe
ENST00000371375.1:c.4466C>T ENSP00000360426.1:p.Ser1489Phe
ENST00000371380.7:c.5390C>T ENSP00000360431.2:p.Ser1797Phe
ENST00000371385.7:c.4466C>T ENSP00000360438.3:p.Ser1489Phe
NM_001165979.2:c.4466C>T NP_001159451.1:p.Ser1489Phe
NM_001288989.1:c.5342C>T NP_001275918.1:p.Ser1781Phe
NM_016341.3:c.5390C>T NP_057425.3:p.Ser1797Phe
XM_006717885.2:c.5432C>T XP_006717948.1:p.Ser1811Phe
XM_006717886.2:c.5432C>T XP_006717949.1:p.Ser1811Phe
XM_006717888.2:c.5429C>T XP_006717951.1:p.Ser1810Phe
XM_006717889.2:c.5384C>T XP_006717952.1:p.Ser1795Phe
XM_006717890.1:c.4508C>T XP_006717953.1:p.Ser1503Phe
XM_011539849.1:c.5432C>T XP_011538151.1:p.Ser1811Phe
XM_011539850.1:c.4277C>T XP_011538152.1:p.Ser1426Phe
XM_006717885.4:c.5432C>T XP_006717948.1:p.Ser1811Phe
XM_006717888.4:c.5429C>T XP_006717951.1:p.Ser1810Phe
XM_006717889.4:c.5384C>T XP_006717952.1:p.Ser1795Phe
XM_006717890.3:c.4508C>T XP_006717953.1:p.Ser1503Phe
XM_011539849.3:c.5432C>T XP_011538151.1:p.Ser1811Phe
XM_011539850.3:c.4277C>T XP_011538152.1:p.Ser1426Phe
XM_017016310.2:c.5432C>T XP_016871799.1:p.Ser1811Phe
XM_017016311.2:c.5432C>T XP_016871800.1:p.Ser1811Phe
XM_017016312.2:c.4418C>T XP_016871801.1:p.Ser1473Phe
NM_001288989.2:c.5342C>T NP_001275918.1:p.Ser1781Phe
NM_016341.4:c.5390C>T MANE Select NP_057425.3:p.Ser1797Phe