Canonical Allele Identifier: CA377641715

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298409A>C , CM000672.2:g.94298409A>C	GRCh38
NC_000010.10:g.96058166A>C , CM000672.1:g.96058166A>C	GRCh37
NC_000010.9:g.96048156A>C	NCBI36
NG_015799.1:g.309421A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5198A>C MANE Select	NP_057425.3:p.Glu1733Ala
ENST00000371380.8:c.5198A>C MANE Select	ENSP00000360431.2:p.Glu1733Ala
NM_001165979.2:c.4274A>C	NP_001159451.1:p.Glu1425Ala
NM_001288989.1:c.5150A>C	NP_001275918.1:p.Glu1717Ala
NM_001288989.2:c.5150A>C	NP_001275918.1:p.Glu1717Ala
NM_016341.3:c.5198A>C	NP_057425.3:p.Glu1733Ala
ENST00000260766.7:c.5198A>C	ENSP00000260766.3:p.Glu1733Ala
ENST00000371375.1:c.4274A>C	ENSP00000360426.1:p.Glu1425Ala
ENST00000371375.2:c.4274A>C	ENSP00000360426.1:p.Glu1425Ala
ENST00000371380.7:c.5198A>C	ENSP00000360431.2:p.Glu1733Ala
ENST00000371385.7:c.4274A>C	ENSP00000360438.3:p.Glu1425Ala
ENST00000371385.8:c.4172A>C	ENSP00000360438.4:p.Glu1391Ala
ENST00000674738.1:c.3753A>C
ENST00000674827.1:c.3314A>C	ENSP00000502523.1:p.Glu1105Ala
ENST00000675218.1:c.4274A>C	ENSP00000501910.1:p.Glu1425Ala
ENST00000675487.1:c.*1131A>C	ENSP00000502340.1:n.*1131A>C
ENST00000675718.1:c.4467A>C
ENST00000676102.1:c.4043A>C	ENSP00000502811.1:p.Glu1348Ala
ENST00000685253.1:c.*1741A>C	ENSP00000509405.1:n.*1741A>C
ENST00000685889.1:n.1933A>C
ENST00000686807.1:n.617A>C
ENST00000686954.1:c.*482A>C	ENSP00000508416.1:n.*482A>C
ENST00000688810.1:c.4226A>C	ENSP00000509140.1:p.Glu1409Ala
ENST00000689233.1:n.9406A>C
ENST00000690340.1:n.2871A>C
ENST00000692286.1:c.5066A>C	ENSP00000509490.1:p.Glu1689Ala
ENST00000692396.1:c.5150A>C	ENSP00000508605.1:p.Glu1717Ala
XM_006717885.2:c.5240A>C	XP_006717948.1:p.Glu1747Ala
XM_006717885.4:c.5240A>C	XP_006717948.1:p.Glu1747Ala
XM_006717886.2:c.5240A>C	XP_006717949.1:p.Glu1747Ala
XM_006717888.2:c.5237A>C	XP_006717951.1:p.Glu1746Ala
XM_006717888.4:c.5237A>C	XP_006717951.1:p.Glu1746Ala
XM_006717889.2:c.5192A>C	XP_006717952.1:p.Glu1731Ala
XM_006717889.4:c.5192A>C	XP_006717952.1:p.Glu1731Ala
XM_006717890.1:c.4316A>C	XP_006717953.1:p.Glu1439Ala
XM_006717890.3:c.4316A>C	XP_006717953.1:p.Glu1439Ala
XM_011539849.1:c.5240A>C	XP_011538151.1:p.Glu1747Ala
XM_011539849.3:c.5240A>C	XP_011538151.1:p.Glu1747Ala
XM_011539850.1:c.4085A>C	XP_011538152.1:p.Glu1362Ala
XM_011539850.3:c.4085A>C	XP_011538152.1:p.Glu1362Ala
XM_017016310.2:c.5240A>C	XP_016871799.1:p.Glu1747Ala
XM_017016311.2:c.5240A>C	XP_016871800.1:p.Glu1747Ala
XM_017016312.2:c.4226A>C	XP_016871801.1:p.Glu1409Ala