Canonical Allele Identifier: CA377640954

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96053388C>T (hg19) ; chr10:g.94293631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293631C>T , CM000672.2:g.94293631C>T	GRCh38
NC_000010.10:g.96053388C>T , CM000672.1:g.96053388C>T	GRCh37
NC_000010.9:g.96043378C>T	NCBI36
NG_015799.1:g.304643C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4235C>T	ENSP00000360426.1:p.Ser1412Phe
ENST00000685253.1:c.*1702C>T	ENSP00000509405.1:n.*1702C>T
ENST00000685889.1:n.1894C>T
ENST00000686807.1:n.578C>T
ENST00000686954.1:c.*443C>T	ENSP00000508416.1:n.*443C>T
ENST00000688810.1:c.4187C>T	ENSP00000509140.1:p.Ser1396Phe
ENST00000689233.1:n.9367C>T
ENST00000690340.1:n.2832C>T
ENST00000692286.1:c.5036-4748C>T	ENSP00000509490.1:n.5036-4748C>T
ENST00000692396.1:c.5111C>T	ENSP00000508605.1:p.Ser1704Phe
ENST00000371380.8:c.5159C>T MANE Select	ENSP00000360431.2:p.Ser1720Phe
ENST00000371385.8:c.4133C>T	ENSP00000360438.4:p.Ser1378Phe
ENST00000674738.1:c.3714C>T
ENST00000674827.1:c.3275C>T	ENSP00000502523.1:p.Ser1092Phe
ENST00000675218.1:c.4235C>T	ENSP00000501910.1:p.Ser1412Phe
ENST00000675487.1:c.*1092C>T	ENSP00000502340.1:n.*1092C>T
ENST00000675718.1:c.4428C>T
ENST00000676102.1:c.4004C>T	ENSP00000502811.1:p.Ser1335Phe
ENST00000260766.7:c.5159C>T	ENSP00000260766.3:p.Ser1720Phe
ENST00000371375.1:c.4235C>T	ENSP00000360426.1:p.Ser1412Phe
ENST00000371380.7:c.5159C>T	ENSP00000360431.2:p.Ser1720Phe
ENST00000371385.7:c.4235C>T	ENSP00000360438.3:p.Ser1412Phe
NM_001165979.2:c.4235C>T	NP_001159451.1:p.Ser1412Phe
NM_001288989.1:c.5111C>T	NP_001275918.1:p.Ser1704Phe
NM_016341.3:c.5159C>T	NP_057425.3:p.Ser1720Phe
XM_006717885.2:c.5201C>T	XP_006717948.1:p.Ser1734Phe
XM_006717886.2:c.5201C>T	XP_006717949.1:p.Ser1734Phe
XM_006717888.2:c.5198C>T	XP_006717951.1:p.Ser1733Phe
XM_006717889.2:c.5153C>T	XP_006717952.1:p.Ser1718Phe
XM_006717890.1:c.4277C>T	XP_006717953.1:p.Ser1426Phe
XM_011539849.1:c.5201C>T	XP_011538151.1:p.Ser1734Phe
XM_011539850.1:c.4046C>T	XP_011538152.1:p.Ser1349Phe
XM_006717885.4:c.5201C>T	XP_006717948.1:p.Ser1734Phe
XM_006717888.4:c.5198C>T	XP_006717951.1:p.Ser1733Phe
XM_006717889.4:c.5153C>T	XP_006717952.1:p.Ser1718Phe
XM_006717890.3:c.4277C>T	XP_006717953.1:p.Ser1426Phe
XM_011539849.3:c.5201C>T	XP_011538151.1:p.Ser1734Phe
XM_011539850.3:c.4046C>T	XP_011538152.1:p.Ser1349Phe
XM_017016310.2:c.5201C>T	XP_016871799.1:p.Ser1734Phe
XM_017016311.2:c.5201C>T	XP_016871800.1:p.Ser1734Phe
XM_017016312.2:c.4187C>T	XP_016871801.1:p.Ser1396Phe
NM_001288989.2:c.5111C>T	NP_001275918.1:p.Ser1704Phe
NM_016341.4:c.5159C>T MANE Select	NP_057425.3:p.Ser1720Phe