Canonical Allele Identifier: CA1928998433

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298548C= , CM000672.2:g.94298548C=	GRCh38
NC_000010.10:g.96058305C= , CM000672.1:g.96058305C=	GRCh37
NC_000010.9:g.96048295C=	NCBI36
NG_015799.1:g.309560C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4413C=	ENSP00000360426.1:p.His1471=
ENST00000685253.1:c.*1880C=	ENSP00000509405.1:n.*1880C=
ENST00000685889.1:n.2072C=
ENST00000686807.1:n.756C=
ENST00000686954.1:c.*621C=	ENSP00000508416.1:n.*621C=
ENST00000688810.1:c.4365C=	ENSP00000509140.1:p.His1455=
ENST00000689233.1:n.9545C=
ENST00000690340.1:n.3010C=
ENST00000692286.1:c.5205C=	ENSP00000509490.1:p.His1735=
ENST00000692396.1:c.5289C=	ENSP00000508605.1:p.His1763=
ENST00000371380.8:c.5337C= MANE Select	ENSP00000360431.2:p.His1779=
ENST00000371385.8:c.4311C=	ENSP00000360438.4:p.His1437=
ENST00000674738.1:c.3892C=
ENST00000674827.1:c.3453C=	ENSP00000502523.1:p.His1151=
ENST00000675218.1:c.4413C=	ENSP00000501910.1:p.His1471=
ENST00000675487.1:c.*1270C=	ENSP00000502340.1:n.*1270C=
ENST00000675718.1:c.4606C=
ENST00000260766.7:c.5337C=	ENSP00000260766.3:p.His1779=
ENST00000371375.1:c.4413C=	ENSP00000360426.1:p.His1471=
ENST00000371380.7:c.5337C=	ENSP00000360431.2:p.His1779=
ENST00000371385.7:c.4413C=	ENSP00000360438.3:p.His1471=
NM_001165979.2:c.4413C=	NP_001159451.1:p.His1471=
NM_001288989.1:c.5289C=	NP_001275918.1:p.His1763=
NM_016341.3:c.5337C=	NP_057425.3:p.His1779=
XM_006717885.2:c.5379C=	XP_006717948.1:p.His1793=
XM_006717886.2:c.5379C=	XP_006717949.1:p.His1793=
XM_006717888.2:c.5376C=	XP_006717951.1:p.His1792=
XM_006717889.2:c.5331C=	XP_006717952.1:p.His1777=
XM_006717890.1:c.4455C=	XP_006717953.1:p.His1485=
XM_011539849.1:c.5379C=	XP_011538151.1:p.His1793=
XM_011539850.1:c.4224C=	XP_011538152.1:p.His1408=
XM_006717885.4:c.5379C=	XP_006717948.1:p.His1793=
XM_006717888.4:c.5376C=	XP_006717951.1:p.His1792=
XM_006717889.4:c.5331C=	XP_006717952.1:p.His1777=
XM_006717890.3:c.4455C=	XP_006717953.1:p.His1485=
XM_011539849.3:c.5379C=	XP_011538151.1:p.His1793=
XM_011539850.3:c.4224C=	XP_011538152.1:p.His1408=
XM_017016310.2:c.5379C=	XP_016871799.1:p.His1793=
XM_017016311.2:c.5379C=	XP_016871800.1:p.His1793=
XM_017016312.2:c.4365C=	XP_016871801.1:p.His1455=
NM_001288989.2:c.5289C=	NP_001275918.1:p.His1763=
NM_016341.4:c.5337C= MANE Select	NP_057425.3:p.His1779=