Canonical Allele Identifier: CA1928998414

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298489C= , CM000672.2:g.94298489C=	GRCh38
NC_000010.10:g.96058246C= , CM000672.1:g.96058246C=	GRCh37
NC_000010.9:g.96048236C=	NCBI36
NG_015799.1:g.309501C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4354C=	ENSP00000360426.1:p.Leu1452=
ENST00000685253.1:c.*1821C=	ENSP00000509405.1:n.*1821C=
ENST00000685889.1:n.2013C=
ENST00000686807.1:n.697C=
ENST00000686954.1:c.*562C=	ENSP00000508416.1:n.*562C=
ENST00000688810.1:c.4306C=	ENSP00000509140.1:p.Leu1436=
ENST00000689233.1:n.9486C=
ENST00000690340.1:n.2951C=
ENST00000692286.1:c.5146C=	ENSP00000509490.1:p.Leu1716=
ENST00000692396.1:c.5230C=	ENSP00000508605.1:p.Leu1744=
ENST00000371380.8:c.5278C= MANE Select	ENSP00000360431.2:p.Leu1760=
ENST00000371385.8:c.4252C=	ENSP00000360438.4:p.Leu1418=
ENST00000674738.1:c.3833C=
ENST00000674827.1:c.3394C=	ENSP00000502523.1:p.Leu1132=
ENST00000675218.1:c.4354C=	ENSP00000501910.1:p.Leu1452=
ENST00000675487.1:c.*1211C=	ENSP00000502340.1:n.*1211C=
ENST00000675718.1:c.4547C=
ENST00000260766.7:c.5278C=	ENSP00000260766.3:p.Leu1760=
ENST00000371375.1:c.4354C=	ENSP00000360426.1:p.Leu1452=
ENST00000371380.7:c.5278C=	ENSP00000360431.2:p.Leu1760=
ENST00000371385.7:c.4354C=	ENSP00000360438.3:p.Leu1452=
NM_001165979.2:c.4354C=	NP_001159451.1:p.Leu1452=
NM_001288989.1:c.5230C=	NP_001275918.1:p.Leu1744=
NM_016341.3:c.5278C=	NP_057425.3:p.Leu1760=
XM_006717885.2:c.5320C=	XP_006717948.1:p.Leu1774=
XM_006717886.2:c.5320C=	XP_006717949.1:p.Leu1774=
XM_006717888.2:c.5317C=	XP_006717951.1:p.Leu1773=
XM_006717889.2:c.5272C=	XP_006717952.1:p.Leu1758=
XM_006717890.1:c.4396C=	XP_006717953.1:p.Leu1466=
XM_011539849.1:c.5320C=	XP_011538151.1:p.Leu1774=
XM_011539850.1:c.4165C=	XP_011538152.1:p.Leu1389=
XM_006717885.4:c.5320C=	XP_006717948.1:p.Leu1774=
XM_006717888.4:c.5317C=	XP_006717951.1:p.Leu1773=
XM_006717889.4:c.5272C=	XP_006717952.1:p.Leu1758=
XM_006717890.3:c.4396C=	XP_006717953.1:p.Leu1466=
XM_011539849.3:c.5320C=	XP_011538151.1:p.Leu1774=
XM_011539850.3:c.4165C=	XP_011538152.1:p.Leu1389=
XM_017016310.2:c.5320C=	XP_016871799.1:p.Leu1774=
XM_017016311.2:c.5320C=	XP_016871800.1:p.Leu1774=
XM_017016312.2:c.4306C=	XP_016871801.1:p.Leu1436=
NM_001288989.2:c.5230C=	NP_001275918.1:p.Leu1744=
NM_016341.4:c.5278C= MANE Select	NP_057425.3:p.Leu1760=