Canonical Allele Identifier: CA377641879

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298484C>T , CM000672.2:g.94298484C>T	GRCh38
NC_000010.10:g.96058241C>T , CM000672.1:g.96058241C>T	GRCh37
NC_000010.9:g.96048231C>T	NCBI36
NG_015799.1:g.309496C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5273C>T MANE Select	NP_057425.3:p.Ser1758Leu
ENST00000371380.8:c.5273C>T MANE Select	ENSP00000360431.2:p.Ser1758Leu
NM_001165979.2:c.4349C>T	NP_001159451.1:p.Ser1450Leu
NM_001288989.1:c.5225C>T	NP_001275918.1:p.Ser1742Leu
NM_001288989.2:c.5225C>T	NP_001275918.1:p.Ser1742Leu
NM_016341.3:c.5273C>T	NP_057425.3:p.Ser1758Leu
ENST00000260766.7:c.5273C>T	ENSP00000260766.3:p.Ser1758Leu
ENST00000371375.1:c.4349C>T	ENSP00000360426.1:p.Ser1450Leu
ENST00000371375.2:c.4349C>T	ENSP00000360426.1:p.Ser1450Leu
ENST00000371380.7:c.5273C>T	ENSP00000360431.2:p.Ser1758Leu
ENST00000371385.7:c.4349C>T	ENSP00000360438.3:p.Ser1450Leu
ENST00000371385.8:c.4247C>T	ENSP00000360438.4:p.Ser1416Leu
ENST00000674738.1:c.3828C>T
ENST00000674827.1:c.3389C>T	ENSP00000502523.1:p.Ser1130Leu
ENST00000675218.1:c.4349C>T	ENSP00000501910.1:p.Ser1450Leu
ENST00000675487.1:c.*1206C>T	ENSP00000502340.1:n.*1206C>T
ENST00000675718.1:c.4542C>T
ENST00000685253.1:c.*1816C>T	ENSP00000509405.1:n.*1816C>T
ENST00000685889.1:n.2008C>T
ENST00000686807.1:n.692C>T
ENST00000686954.1:c.*557C>T	ENSP00000508416.1:n.*557C>T
ENST00000688810.1:c.4301C>T	ENSP00000509140.1:p.Ser1434Leu
ENST00000689233.1:n.9481C>T
ENST00000690340.1:n.2946C>T
ENST00000692286.1:c.5141C>T	ENSP00000509490.1:p.Ser1714Leu
ENST00000692396.1:c.5225C>T	ENSP00000508605.1:p.Ser1742Leu
XM_006717885.2:c.5315C>T	XP_006717948.1:p.Ser1772Leu
XM_006717885.4:c.5315C>T	XP_006717948.1:p.Ser1772Leu
XM_006717886.2:c.5315C>T	XP_006717949.1:p.Ser1772Leu
XM_006717888.2:c.5312C>T	XP_006717951.1:p.Ser1771Leu
XM_006717888.4:c.5312C>T	XP_006717951.1:p.Ser1771Leu
XM_006717889.2:c.5267C>T	XP_006717952.1:p.Ser1756Leu
XM_006717889.4:c.5267C>T	XP_006717952.1:p.Ser1756Leu
XM_006717890.1:c.4391C>T	XP_006717953.1:p.Ser1464Leu
XM_006717890.3:c.4391C>T	XP_006717953.1:p.Ser1464Leu
XM_011539849.1:c.5315C>T	XP_011538151.1:p.Ser1772Leu
XM_011539849.3:c.5315C>T	XP_011538151.1:p.Ser1772Leu
XM_011539850.1:c.4160C>T	XP_011538152.1:p.Ser1387Leu
XM_011539850.3:c.4160C>T	XP_011538152.1:p.Ser1387Leu
XM_017016310.2:c.5315C>T	XP_016871799.1:p.Ser1772Leu
XM_017016311.2:c.5315C>T	XP_016871800.1:p.Ser1772Leu
XM_017016312.2:c.4301C>T	XP_016871801.1:p.Ser1434Leu