Canonical Allele Identifier: CA377641875

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298483T>G , CM000672.2:g.94298483T>G	GRCh38
NC_000010.10:g.96058240T>G , CM000672.1:g.96058240T>G	GRCh37
NC_000010.9:g.96048230T>G	NCBI36
NG_015799.1:g.309495T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5272T>G MANE Select	NP_057425.3:p.Ser1758Ala
ENST00000371380.8:c.5272T>G MANE Select	ENSP00000360431.2:p.Ser1758Ala
NM_001165979.2:c.4348T>G	NP_001159451.1:p.Ser1450Ala
NM_001288989.1:c.5224T>G	NP_001275918.1:p.Ser1742Ala
NM_001288989.2:c.5224T>G	NP_001275918.1:p.Ser1742Ala
NM_016341.3:c.5272T>G	NP_057425.3:p.Ser1758Ala
ENST00000260766.7:c.5272T>G	ENSP00000260766.3:p.Ser1758Ala
ENST00000371375.1:c.4348T>G	ENSP00000360426.1:p.Ser1450Ala
ENST00000371375.2:c.4348T>G	ENSP00000360426.1:p.Ser1450Ala
ENST00000371380.7:c.5272T>G	ENSP00000360431.2:p.Ser1758Ala
ENST00000371385.7:c.4348T>G	ENSP00000360438.3:p.Ser1450Ala
ENST00000371385.8:c.4246T>G	ENSP00000360438.4:p.Ser1416Ala
ENST00000674738.1:c.3827T>G
ENST00000674827.1:c.3388T>G	ENSP00000502523.1:p.Ser1130Ala
ENST00000675218.1:c.4348T>G	ENSP00000501910.1:p.Ser1450Ala
ENST00000675487.1:c.*1205T>G	ENSP00000502340.1:n.*1205T>G
ENST00000675718.1:c.4541T>G
ENST00000685253.1:c.*1815T>G	ENSP00000509405.1:n.*1815T>G
ENST00000685889.1:n.2007T>G
ENST00000686807.1:n.691T>G
ENST00000686954.1:c.*556T>G	ENSP00000508416.1:n.*556T>G
ENST00000688810.1:c.4300T>G	ENSP00000509140.1:p.Ser1434Ala
ENST00000689233.1:n.9480T>G
ENST00000690340.1:n.2945T>G
ENST00000692286.1:c.5140T>G	ENSP00000509490.1:p.Ser1714Ala
ENST00000692396.1:c.5224T>G	ENSP00000508605.1:p.Ser1742Ala
XM_006717885.2:c.5314T>G	XP_006717948.1:p.Ser1772Ala
XM_006717885.4:c.5314T>G	XP_006717948.1:p.Ser1772Ala
XM_006717886.2:c.5314T>G	XP_006717949.1:p.Ser1772Ala
XM_006717888.2:c.5311T>G	XP_006717951.1:p.Ser1771Ala
XM_006717888.4:c.5311T>G	XP_006717951.1:p.Ser1771Ala
XM_006717889.2:c.5266T>G	XP_006717952.1:p.Ser1756Ala
XM_006717889.4:c.5266T>G	XP_006717952.1:p.Ser1756Ala
XM_006717890.1:c.4390T>G	XP_006717953.1:p.Ser1464Ala
XM_006717890.3:c.4390T>G	XP_006717953.1:p.Ser1464Ala
XM_011539849.1:c.5314T>G	XP_011538151.1:p.Ser1772Ala
XM_011539849.3:c.5314T>G	XP_011538151.1:p.Ser1772Ala
XM_011539850.1:c.4159T>G	XP_011538152.1:p.Ser1387Ala
XM_011539850.3:c.4159T>G	XP_011538152.1:p.Ser1387Ala
XM_017016310.2:c.5314T>G	XP_016871799.1:p.Ser1772Ala
XM_017016311.2:c.5314T>G	XP_016871800.1:p.Ser1772Ala
XM_017016312.2:c.4300T>G	XP_016871801.1:p.Ser1434Ala