Canonical Allele Identifier: CA1928998375

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298404C= , CM000672.2:g.94298404C=	GRCh38
NC_000010.10:g.96058161C= , CM000672.1:g.96058161C=	GRCh37
NC_000010.9:g.96048151C=	NCBI36
NG_015799.1:g.309416C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4269C=	ENSP00000360426.1:p.Thr1423=
ENST00000685253.1:c.*1736C=	ENSP00000509405.1:n.*1736C=
ENST00000685889.1:n.1928C=
ENST00000686807.1:n.612C=
ENST00000686954.1:c.*477C=	ENSP00000508416.1:n.*477C=
ENST00000688810.1:c.4221C=	ENSP00000509140.1:p.Thr1407=
ENST00000689233.1:n.9401C=
ENST00000690340.1:n.2866C=
ENST00000692286.1:c.5061C=	ENSP00000509490.1:p.Thr1687=
ENST00000692396.1:c.5145C=	ENSP00000508605.1:p.Thr1715=
ENST00000371380.8:c.5193C= MANE Select	ENSP00000360431.2:p.Thr1731=
ENST00000371385.8:c.4167C=	ENSP00000360438.4:p.Thr1389=
ENST00000674738.1:c.3748C=
ENST00000674827.1:c.3309C=	ENSP00000502523.1:p.Thr1103=
ENST00000675218.1:c.4269C=	ENSP00000501910.1:p.Thr1423=
ENST00000675487.1:c.*1126C=	ENSP00000502340.1:n.*1126C=
ENST00000675718.1:c.4462C=
ENST00000676102.1:c.4038C=	ENSP00000502811.1:p.Thr1346=
ENST00000260766.7:c.5193C=	ENSP00000260766.3:p.Thr1731=
ENST00000371375.1:c.4269C=	ENSP00000360426.1:p.Thr1423=
ENST00000371380.7:c.5193C=	ENSP00000360431.2:p.Thr1731=
ENST00000371385.7:c.4269C=	ENSP00000360438.3:p.Thr1423=
NM_001165979.2:c.4269C=	NP_001159451.1:p.Thr1423=
NM_001288989.1:c.5145C=	NP_001275918.1:p.Thr1715=
NM_016341.3:c.5193C=	NP_057425.3:p.Thr1731=
XM_006717885.2:c.5235C=	XP_006717948.1:p.Thr1745=
XM_006717886.2:c.5235C=	XP_006717949.1:p.Thr1745=
XM_006717888.2:c.5232C=	XP_006717951.1:p.Thr1744=
XM_006717889.2:c.5187C=	XP_006717952.1:p.Thr1729=
XM_006717890.1:c.4311C=	XP_006717953.1:p.Thr1437=
XM_011539849.1:c.5235C=	XP_011538151.1:p.Thr1745=
XM_011539850.1:c.4080C=	XP_011538152.1:p.Thr1360=
XM_006717885.4:c.5235C=	XP_006717948.1:p.Thr1745=
XM_006717888.4:c.5232C=	XP_006717951.1:p.Thr1744=
XM_006717889.4:c.5187C=	XP_006717952.1:p.Thr1729=
XM_006717890.3:c.4311C=	XP_006717953.1:p.Thr1437=
XM_011539849.3:c.5235C=	XP_011538151.1:p.Thr1745=
XM_011539850.3:c.4080C=	XP_011538152.1:p.Thr1360=
XM_017016310.2:c.5235C=	XP_016871799.1:p.Thr1745=
XM_017016311.2:c.5235C=	XP_016871800.1:p.Thr1745=
XM_017016312.2:c.4221C=	XP_016871801.1:p.Thr1407=
NM_001288989.2:c.5145C=	NP_001275918.1:p.Thr1715=
NM_016341.4:c.5193C= MANE Select	NP_057425.3:p.Thr1731=