Canonical Allele Identifier: CA470986479

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298470A>G , CM000672.2:g.94298470A>G	GRCh38
NC_000010.10:g.96058227A>G , CM000672.1:g.96058227A>G	GRCh37
NC_000010.9:g.96048217A>G	NCBI36
NG_015799.1:g.309482A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5259A>G MANE Select	NP_057425.3:p.Lys1753=
ENST00000371380.8:c.5259A>G MANE Select	ENSP00000360431.2:p.Lys1753=
NM_001165979.2:c.4335A>G	NP_001159451.1:p.Lys1445=
NM_001288989.1:c.5211A>G	NP_001275918.1:p.Lys1737=
NM_001288989.2:c.5211A>G	NP_001275918.1:p.Lys1737=
NM_016341.3:c.5259A>G	NP_057425.3:p.Lys1753=
ENST00000260766.7:c.5259A>G	ENSP00000260766.3:p.Lys1753=
ENST00000371375.1:c.4335A>G	ENSP00000360426.1:p.Lys1445=
ENST00000371375.2:c.4335A>G	ENSP00000360426.1:p.Lys1445=
ENST00000371380.7:c.5259A>G	ENSP00000360431.2:p.Lys1753=
ENST00000371385.7:c.4335A>G	ENSP00000360438.3:p.Lys1445=
ENST00000371385.8:c.4233A>G	ENSP00000360438.4:p.Lys1411=
ENST00000674738.1:c.3814A>G
ENST00000674827.1:c.3375A>G	ENSP00000502523.1:p.Lys1125=
ENST00000675218.1:c.4335A>G	ENSP00000501910.1:p.Lys1445=
ENST00000675487.1:c.*1192A>G	ENSP00000502340.1:n.*1192A>G
ENST00000675718.1:c.4528A>G
ENST00000676102.1:c.4104A>G	ENSP00000502811.1:p.Lys1368=
ENST00000685253.1:c.*1802A>G	ENSP00000509405.1:n.*1802A>G
ENST00000685889.1:n.1994A>G
ENST00000686807.1:n.678A>G
ENST00000686954.1:c.*543A>G	ENSP00000508416.1:n.*543A>G
ENST00000688810.1:c.4287A>G	ENSP00000509140.1:p.Lys1429=
ENST00000689233.1:n.9467A>G
ENST00000690340.1:n.2932A>G
ENST00000692286.1:c.5127A>G	ENSP00000509490.1:p.Lys1709=
ENST00000692396.1:c.5211A>G	ENSP00000508605.1:p.Lys1737=
XM_006717885.2:c.5301A>G	XP_006717948.1:p.Lys1767=
XM_006717885.4:c.5301A>G	XP_006717948.1:p.Lys1767=
XM_006717886.2:c.5301A>G	XP_006717949.1:p.Lys1767=
XM_006717888.2:c.5298A>G	XP_006717951.1:p.Lys1766=
XM_006717888.4:c.5298A>G	XP_006717951.1:p.Lys1766=
XM_006717889.2:c.5253A>G	XP_006717952.1:p.Lys1751=
XM_006717889.4:c.5253A>G	XP_006717952.1:p.Lys1751=
XM_006717890.1:c.4377A>G	XP_006717953.1:p.Lys1459=
XM_006717890.3:c.4377A>G	XP_006717953.1:p.Lys1459=
XM_011539849.1:c.5301A>G	XP_011538151.1:p.Lys1767=
XM_011539849.3:c.5301A>G	XP_011538151.1:p.Lys1767=
XM_011539850.1:c.4146A>G	XP_011538152.1:p.Lys1382=
XM_011539850.3:c.4146A>G	XP_011538152.1:p.Lys1382=
XM_017016310.2:c.5301A>G	XP_016871799.1:p.Lys1767=
XM_017016311.2:c.5301A>G	XP_016871800.1:p.Lys1767=
XM_017016312.2:c.4287A>G	XP_016871801.1:p.Lys1429=