Canonical Allele Identifier: CA1928998434

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298550C= , CM000672.2:g.94298550C=	GRCh38
NC_000010.10:g.96058307C= , CM000672.1:g.96058307C=	GRCh37
NC_000010.9:g.96048297C=	NCBI36
NG_015799.1:g.309562C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4415C=	ENSP00000360426.1:p.Thr1472=
ENST00000685253.1:c.*1882C=	ENSP00000509405.1:n.*1882C=
ENST00000685889.1:n.2074C=
ENST00000686807.1:n.758C=
ENST00000686954.1:c.*623C=	ENSP00000508416.1:n.*623C=
ENST00000688810.1:c.4367C=	ENSP00000509140.1:p.Thr1456=
ENST00000689233.1:n.9547C=
ENST00000690340.1:n.3012C=
ENST00000692286.1:c.5207C=	ENSP00000509490.1:p.Thr1736=
ENST00000692396.1:c.5291C=	ENSP00000508605.1:p.Thr1764=
ENST00000371380.8:c.5339C= MANE Select	ENSP00000360431.2:p.Thr1780=
ENST00000371385.8:c.4313C=	ENSP00000360438.4:p.Thr1438=
ENST00000674738.1:c.3894C=
ENST00000674827.1:c.3455C=	ENSP00000502523.1:p.Thr1152=
ENST00000675218.1:c.4415C=	ENSP00000501910.1:p.Thr1472=
ENST00000675487.1:c.*1272C=	ENSP00000502340.1:n.*1272C=
ENST00000675718.1:c.4608C=
ENST00000260766.7:c.5339C=	ENSP00000260766.3:p.Thr1780=
ENST00000371375.1:c.4415C=	ENSP00000360426.1:p.Thr1472=
ENST00000371380.7:c.5339C=	ENSP00000360431.2:p.Thr1780=
ENST00000371385.7:c.4415C=	ENSP00000360438.3:p.Thr1472=
NM_001165979.2:c.4415C=	NP_001159451.1:p.Thr1472=
NM_001288989.1:c.5291C=	NP_001275918.1:p.Thr1764=
NM_016341.3:c.5339C=	NP_057425.3:p.Thr1780=
XM_006717885.2:c.5381C=	XP_006717948.1:p.Thr1794=
XM_006717886.2:c.5381C=	XP_006717949.1:p.Thr1794=
XM_006717888.2:c.5378C=	XP_006717951.1:p.Thr1793=
XM_006717889.2:c.5333C=	XP_006717952.1:p.Thr1778=
XM_006717890.1:c.4457C=	XP_006717953.1:p.Thr1486=
XM_011539849.1:c.5381C=	XP_011538151.1:p.Thr1794=
XM_011539850.1:c.4226C=	XP_011538152.1:p.Thr1409=
XM_006717885.4:c.5381C=	XP_006717948.1:p.Thr1794=
XM_006717888.4:c.5378C=	XP_006717951.1:p.Thr1793=
XM_006717889.4:c.5333C=	XP_006717952.1:p.Thr1778=
XM_006717890.3:c.4457C=	XP_006717953.1:p.Thr1486=
XM_011539849.3:c.5381C=	XP_011538151.1:p.Thr1794=
XM_011539850.3:c.4226C=	XP_011538152.1:p.Thr1409=
XM_017016310.2:c.5381C=	XP_016871799.1:p.Thr1794=
XM_017016311.2:c.5381C=	XP_016871800.1:p.Thr1794=
XM_017016312.2:c.4367C=	XP_016871801.1:p.Thr1456=
NM_001288989.2:c.5291C=	NP_001275918.1:p.Thr1764=
NM_016341.4:c.5339C= MANE Select	NP_057425.3:p.Thr1780=