Canonical Allele Identifier: CA1928998405

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298469A= , CM000672.2:g.94298469A=	GRCh38
NC_000010.10:g.96058226A= , CM000672.1:g.96058226A=	GRCh37
NC_000010.9:g.96048216A=	NCBI36
NG_015799.1:g.309481A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4334A=	ENSP00000360426.1:p.Lys1445=
ENST00000685253.1:c.*1801A=	ENSP00000509405.1:n.*1801A=
ENST00000685889.1:n.1993A=
ENST00000686807.1:n.677A=
ENST00000686954.1:c.*542A=	ENSP00000508416.1:n.*542A=
ENST00000688810.1:c.4286A=	ENSP00000509140.1:p.Lys1429=
ENST00000689233.1:n.9466A=
ENST00000690340.1:n.2931A=
ENST00000692286.1:c.5126A=	ENSP00000509490.1:p.Lys1709=
ENST00000692396.1:c.5210A=	ENSP00000508605.1:p.Lys1737=
ENST00000371380.8:c.5258A= MANE Select	ENSP00000360431.2:p.Lys1753=
ENST00000371385.8:c.4232A=	ENSP00000360438.4:p.Lys1411=
ENST00000674738.1:c.3813A=
ENST00000674827.1:c.3374A=	ENSP00000502523.1:p.Lys1125=
ENST00000675218.1:c.4334A=	ENSP00000501910.1:p.Lys1445=
ENST00000675487.1:c.*1191A=	ENSP00000502340.1:n.*1191A=
ENST00000675718.1:c.4527A=
ENST00000676102.1:c.4103A=	ENSP00000502811.1:p.Lys1368=
ENST00000260766.7:c.5258A=	ENSP00000260766.3:p.Lys1753=
ENST00000371375.1:c.4334A=	ENSP00000360426.1:p.Lys1445=
ENST00000371380.7:c.5258A=	ENSP00000360431.2:p.Lys1753=
ENST00000371385.7:c.4334A=	ENSP00000360438.3:p.Lys1445=
NM_001165979.2:c.4334A=	NP_001159451.1:p.Lys1445=
NM_001288989.1:c.5210A=	NP_001275918.1:p.Lys1737=
NM_016341.3:c.5258A=	NP_057425.3:p.Lys1753=
XM_006717885.2:c.5300A=	XP_006717948.1:p.Lys1767=
XM_006717886.2:c.5300A=	XP_006717949.1:p.Lys1767=
XM_006717888.2:c.5297A=	XP_006717951.1:p.Lys1766=
XM_006717889.2:c.5252A=	XP_006717952.1:p.Lys1751=
XM_006717890.1:c.4376A=	XP_006717953.1:p.Lys1459=
XM_011539849.1:c.5300A=	XP_011538151.1:p.Lys1767=
XM_011539850.1:c.4145A=	XP_011538152.1:p.Lys1382=
XM_006717885.4:c.5300A=	XP_006717948.1:p.Lys1767=
XM_006717888.4:c.5297A=	XP_006717951.1:p.Lys1766=
XM_006717889.4:c.5252A=	XP_006717952.1:p.Lys1751=
XM_006717890.3:c.4376A=	XP_006717953.1:p.Lys1459=
XM_011539849.3:c.5300A=	XP_011538151.1:p.Lys1767=
XM_011539850.3:c.4145A=	XP_011538152.1:p.Lys1382=
XM_017016310.2:c.5300A=	XP_016871799.1:p.Lys1767=
XM_017016311.2:c.5300A=	XP_016871800.1:p.Lys1767=
XM_017016312.2:c.4286A=	XP_016871801.1:p.Lys1429=
NM_001288989.2:c.5210A=	NP_001275918.1:p.Lys1737=
NM_016341.4:c.5258A= MANE Select	NP_057425.3:p.Lys1753=