Canonical Allele Identifier: CA1928998393

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298439C= , CM000672.2:g.94298439C=	GRCh38
NC_000010.10:g.96058196C= , CM000672.1:g.96058196C=	GRCh37
NC_000010.9:g.96048186C=	NCBI36
NG_015799.1:g.309451C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4304C=	ENSP00000360426.1:p.Thr1435=
ENST00000685253.1:c.*1771C=	ENSP00000509405.1:n.*1771C=
ENST00000685889.1:n.1963C=
ENST00000686807.1:n.647C=
ENST00000686954.1:c.*512C=	ENSP00000508416.1:n.*512C=
ENST00000688810.1:c.4256C=	ENSP00000509140.1:p.Thr1419=
ENST00000689233.1:n.9436C=
ENST00000690340.1:n.2901C=
ENST00000692286.1:c.5096C=	ENSP00000509490.1:p.Thr1699=
ENST00000692396.1:c.5180C=	ENSP00000508605.1:p.Thr1727=
ENST00000371380.8:c.5228C= MANE Select	ENSP00000360431.2:p.Thr1743=
ENST00000371385.8:c.4202C=	ENSP00000360438.4:p.Thr1401=
ENST00000674738.1:c.3783C=
ENST00000674827.1:c.3344C=	ENSP00000502523.1:p.Thr1115=
ENST00000675218.1:c.4304C=	ENSP00000501910.1:p.Thr1435=
ENST00000675487.1:c.*1161C=	ENSP00000502340.1:n.*1161C=
ENST00000675718.1:c.4497C=
ENST00000676102.1:c.4073C=	ENSP00000502811.1:p.Thr1358=
ENST00000260766.7:c.5228C=	ENSP00000260766.3:p.Thr1743=
ENST00000371375.1:c.4304C=	ENSP00000360426.1:p.Thr1435=
ENST00000371380.7:c.5228C=	ENSP00000360431.2:p.Thr1743=
ENST00000371385.7:c.4304C=	ENSP00000360438.3:p.Thr1435=
NM_001165979.2:c.4304C=	NP_001159451.1:p.Thr1435=
NM_001288989.1:c.5180C=	NP_001275918.1:p.Thr1727=
NM_016341.3:c.5228C=	NP_057425.3:p.Thr1743=
XM_006717885.2:c.5270C=	XP_006717948.1:p.Thr1757=
XM_006717886.2:c.5270C=	XP_006717949.1:p.Thr1757=
XM_006717888.2:c.5267C=	XP_006717951.1:p.Thr1756=
XM_006717889.2:c.5222C=	XP_006717952.1:p.Thr1741=
XM_006717890.1:c.4346C=	XP_006717953.1:p.Thr1449=
XM_011539849.1:c.5270C=	XP_011538151.1:p.Thr1757=
XM_011539850.1:c.4115C=	XP_011538152.1:p.Thr1372=
XM_006717885.4:c.5270C=	XP_006717948.1:p.Thr1757=
XM_006717888.4:c.5267C=	XP_006717951.1:p.Thr1756=
XM_006717889.4:c.5222C=	XP_006717952.1:p.Thr1741=
XM_006717890.3:c.4346C=	XP_006717953.1:p.Thr1449=
XM_011539849.3:c.5270C=	XP_011538151.1:p.Thr1757=
XM_011539850.3:c.4115C=	XP_011538152.1:p.Thr1372=
XM_017016310.2:c.5270C=	XP_016871799.1:p.Thr1757=
XM_017016311.2:c.5270C=	XP_016871800.1:p.Thr1757=
XM_017016312.2:c.4256C=	XP_016871801.1:p.Thr1419=
NM_001288989.2:c.5180C=	NP_001275918.1:p.Thr1727=
NM_016341.4:c.5228C= MANE Select	NP_057425.3:p.Thr1743=