Canonical Allele Identifier: CA377641737

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298418C>T , CM000672.2:g.94298418C>T	GRCh38
NC_000010.10:g.96058175C>T , CM000672.1:g.96058175C>T	GRCh37
NC_000010.9:g.96048165C>T	NCBI36
NG_015799.1:g.309430C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5207C>T MANE Select	NP_057425.3:p.Ser1736Phe
ENST00000371380.8:c.5207C>T MANE Select	ENSP00000360431.2:p.Ser1736Phe
NM_001165979.2:c.4283C>T	NP_001159451.1:p.Ser1428Phe
NM_001288989.1:c.5159C>T	NP_001275918.1:p.Ser1720Phe
NM_001288989.2:c.5159C>T	NP_001275918.1:p.Ser1720Phe
NM_016341.3:c.5207C>T	NP_057425.3:p.Ser1736Phe
ENST00000260766.7:c.5207C>T	ENSP00000260766.3:p.Ser1736Phe
ENST00000371375.1:c.4283C>T	ENSP00000360426.1:p.Ser1428Phe
ENST00000371375.2:c.4283C>T	ENSP00000360426.1:p.Ser1428Phe
ENST00000371380.7:c.5207C>T	ENSP00000360431.2:p.Ser1736Phe
ENST00000371385.7:c.4283C>T	ENSP00000360438.3:p.Ser1428Phe
ENST00000371385.8:c.4181C>T	ENSP00000360438.4:p.Ser1394Phe
ENST00000674738.1:c.3762C>T
ENST00000674827.1:c.3323C>T	ENSP00000502523.1:p.Ser1108Phe
ENST00000675218.1:c.4283C>T	ENSP00000501910.1:p.Ser1428Phe
ENST00000675487.1:c.*1140C>T	ENSP00000502340.1:n.*1140C>T
ENST00000675718.1:c.4476C>T
ENST00000676102.1:c.4052C>T	ENSP00000502811.1:p.Ser1351Phe
ENST00000685253.1:c.*1750C>T	ENSP00000509405.1:n.*1750C>T
ENST00000685889.1:n.1942C>T
ENST00000686807.1:n.626C>T
ENST00000686954.1:c.*491C>T	ENSP00000508416.1:n.*491C>T
ENST00000688810.1:c.4235C>T	ENSP00000509140.1:p.Ser1412Phe
ENST00000689233.1:n.9415C>T
ENST00000690340.1:n.2880C>T
ENST00000692286.1:c.5075C>T	ENSP00000509490.1:p.Ser1692Phe
ENST00000692396.1:c.5159C>T	ENSP00000508605.1:p.Ser1720Phe
XM_006717885.2:c.5249C>T	XP_006717948.1:p.Ser1750Phe
XM_006717885.4:c.5249C>T	XP_006717948.1:p.Ser1750Phe
XM_006717886.2:c.5249C>T	XP_006717949.1:p.Ser1750Phe
XM_006717888.2:c.5246C>T	XP_006717951.1:p.Ser1749Phe
XM_006717888.4:c.5246C>T	XP_006717951.1:p.Ser1749Phe
XM_006717889.2:c.5201C>T	XP_006717952.1:p.Ser1734Phe
XM_006717889.4:c.5201C>T	XP_006717952.1:p.Ser1734Phe
XM_006717890.1:c.4325C>T	XP_006717953.1:p.Ser1442Phe
XM_006717890.3:c.4325C>T	XP_006717953.1:p.Ser1442Phe
XM_011539849.1:c.5249C>T	XP_011538151.1:p.Ser1750Phe
XM_011539849.3:c.5249C>T	XP_011538151.1:p.Ser1750Phe
XM_011539850.1:c.4094C>T	XP_011538152.1:p.Ser1365Phe
XM_011539850.3:c.4094C>T	XP_011538152.1:p.Ser1365Phe
XM_017016310.2:c.5249C>T	XP_016871799.1:p.Ser1750Phe
XM_017016311.2:c.5249C>T	XP_016871800.1:p.Ser1750Phe
XM_017016312.2:c.4235C>T	XP_016871801.1:p.Ser1412Phe