Canonical Allele Identifier: CA377642013

Gene: PLCE1

Linked Data - Variant Effect Evidence

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4413C>A	ENSP00000360426.1:p.His1471Gln
ENST00000685253.1:c.*1880C>A	ENSP00000509405.1:n.*1880C>A
ENST00000685889.1:n.2072C>A
ENST00000686807.1:n.756C>A
ENST00000686954.1:c.*621C>A	ENSP00000508416.1:n.*621C>A
ENST00000688810.1:c.4365C>A	ENSP00000509140.1:p.His1455Gln
ENST00000689233.1:n.9545C>A
ENST00000690340.1:n.3010C>A
ENST00000692286.1:c.5205C>A	ENSP00000509490.1:p.His1735Gln
ENST00000692396.1:c.5289C>A	ENSP00000508605.1:p.His1763Gln
ENST00000371380.8:c.5337C>A MANE Select	ENSP00000360431.2:p.His1779Gln
ENST00000371385.8:c.4311C>A	ENSP00000360438.4:p.His1437Gln
ENST00000674738.1:c.3892C>A
ENST00000674827.1:c.3453C>A	ENSP00000502523.1:p.His1151Gln
ENST00000675218.1:c.4413C>A	ENSP00000501910.1:p.His1471Gln
ENST00000675487.1:c.*1270C>A	ENSP00000502340.1:n.*1270C>A
ENST00000675718.1:c.4606C>A
ENST00000260766.7:c.5337C>A	ENSP00000260766.3:p.His1779Gln
ENST00000371375.1:c.4413C>A	ENSP00000360426.1:p.His1471Gln
ENST00000371380.7:c.5337C>A	ENSP00000360431.2:p.His1779Gln
ENST00000371385.7:c.4413C>A	ENSP00000360438.3:p.His1471Gln
NM_001165979.2:c.4413C>A	NP_001159451.1:p.His1471Gln
NM_001288989.1:c.5289C>A	NP_001275918.1:p.His1763Gln
NM_016341.3:c.5337C>A	NP_057425.3:p.His1779Gln
XM_006717885.2:c.5379C>A	XP_006717948.1:p.His1793Gln
XM_006717886.2:c.5379C>A	XP_006717949.1:p.His1793Gln
XM_006717888.2:c.5376C>A	XP_006717951.1:p.His1792Gln
XM_006717889.2:c.5331C>A	XP_006717952.1:p.His1777Gln
XM_006717890.1:c.4455C>A	XP_006717953.1:p.His1485Gln
XM_011539849.1:c.5379C>A	XP_011538151.1:p.His1793Gln
XM_011539850.1:c.4224C>A	XP_011538152.1:p.His1408Gln
XM_006717885.4:c.5379C>A	XP_006717948.1:p.His1793Gln
XM_006717888.4:c.5376C>A	XP_006717951.1:p.His1792Gln
XM_006717889.4:c.5331C>A	XP_006717952.1:p.His1777Gln
XM_006717890.3:c.4455C>A	XP_006717953.1:p.His1485Gln
XM_011539849.3:c.5379C>A	XP_011538151.1:p.His1793Gln
XM_011539850.3:c.4224C>A	XP_011538152.1:p.His1408Gln
XM_017016310.2:c.5379C>A	XP_016871799.1:p.His1793Gln
XM_017016311.2:c.5379C>A	XP_016871800.1:p.His1793Gln
XM_017016312.2:c.4365C>A	XP_016871801.1:p.His1455Gln
NM_001288989.2:c.5289C>A	NP_001275918.1:p.His1763Gln
NM_016341.4:c.5337C>A MANE Select	NP_057425.3:p.His1779Gln