Canonical Allele Identifier: CA1928998431

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298542C= , CM000672.2:g.94298542C=	GRCh38
NC_000010.10:g.96058299C= , CM000672.1:g.96058299C=	GRCh37
NC_000010.9:g.96048289C=	NCBI36
NG_015799.1:g.309554C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4407C=	ENSP00000360426.1:p.Thr1469=
ENST00000685253.1:c.*1874C=	ENSP00000509405.1:n.*1874C=
ENST00000685889.1:n.2066C=
ENST00000686807.1:n.750C=
ENST00000686954.1:c.*615C=	ENSP00000508416.1:n.*615C=
ENST00000688810.1:c.4359C=	ENSP00000509140.1:p.Thr1453=
ENST00000689233.1:n.9539C=
ENST00000690340.1:n.3004C=
ENST00000692286.1:c.5199C=	ENSP00000509490.1:p.Thr1733=
ENST00000692396.1:c.5283C=	ENSP00000508605.1:p.Thr1761=
ENST00000371380.8:c.5331C= MANE Select	ENSP00000360431.2:p.Thr1777=
ENST00000371385.8:c.4305C=	ENSP00000360438.4:p.Thr1435=
ENST00000674738.1:c.3886C=
ENST00000674827.1:c.3447C=	ENSP00000502523.1:p.Thr1149=
ENST00000675218.1:c.4407C=	ENSP00000501910.1:p.Thr1469=
ENST00000675487.1:c.*1264C=	ENSP00000502340.1:n.*1264C=
ENST00000675718.1:c.4600C=
ENST00000260766.7:c.5331C=	ENSP00000260766.3:p.Thr1777=
ENST00000371375.1:c.4407C=	ENSP00000360426.1:p.Thr1469=
ENST00000371380.7:c.5331C=	ENSP00000360431.2:p.Thr1777=
ENST00000371385.7:c.4407C=	ENSP00000360438.3:p.Thr1469=
NM_001165979.2:c.4407C=	NP_001159451.1:p.Thr1469=
NM_001288989.1:c.5283C=	NP_001275918.1:p.Thr1761=
NM_016341.3:c.5331C=	NP_057425.3:p.Thr1777=
XM_006717885.2:c.5373C=	XP_006717948.1:p.Thr1791=
XM_006717886.2:c.5373C=	XP_006717949.1:p.Thr1791=
XM_006717888.2:c.5370C=	XP_006717951.1:p.Thr1790=
XM_006717889.2:c.5325C=	XP_006717952.1:p.Thr1775=
XM_006717890.1:c.4449C=	XP_006717953.1:p.Thr1483=
XM_011539849.1:c.5373C=	XP_011538151.1:p.Thr1791=
XM_011539850.1:c.4218C=	XP_011538152.1:p.Thr1406=
XM_006717885.4:c.5373C=	XP_006717948.1:p.Thr1791=
XM_006717888.4:c.5370C=	XP_006717951.1:p.Thr1790=
XM_006717889.4:c.5325C=	XP_006717952.1:p.Thr1775=
XM_006717890.3:c.4449C=	XP_006717953.1:p.Thr1483=
XM_011539849.3:c.5373C=	XP_011538151.1:p.Thr1791=
XM_011539850.3:c.4218C=	XP_011538152.1:p.Thr1406=
XM_017016310.2:c.5373C=	XP_016871799.1:p.Thr1791=
XM_017016311.2:c.5373C=	XP_016871800.1:p.Thr1791=
XM_017016312.2:c.4359C=	XP_016871801.1:p.Thr1453=
NM_001288989.2:c.5283C=	NP_001275918.1:p.Thr1761=
NM_016341.4:c.5331C= MANE Select	NP_057425.3:p.Thr1777=