Canonical Allele Identifier: CA5613350

Gene: PLCE1

Linked Data

• dbSNP Id: rs764661960
• ExAC: 10:96058358 C / G
• gnomAD v2: 10-96058358-C-G
• MyVariant Identifiers: chr10:g.96058358C>G (hg19) ; chr10:g.94298601C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298601C>G , CM000672.2:g.94298601C>G	GRCh38
NC_000010.10:g.96058358C>G , CM000672.1:g.96058358C>G	GRCh37
NC_000010.9:g.96048348C>G	NCBI36
NG_015799.1:g.309613C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4466C>G	ENSP00000360426.1:p.Ser1489Cys
ENST00000685253.1:c.*1933C>G	ENSP00000509405.1:n.*1933C>G
ENST00000685889.1:n.2125C>G
ENST00000686807.1:n.809C>G
ENST00000686954.1:c.*674C>G	ENSP00000508416.1:n.*674C>G
ENST00000688810.1:c.4418C>G	ENSP00000509140.1:p.Ser1473Cys
ENST00000689233.1:n.9598C>G
ENST00000690340.1:n.3063C>G
ENST00000692286.1:c.5258C>G	ENSP00000509490.1:p.Ser1753Cys
ENST00000692396.1:c.5342C>G	ENSP00000508605.1:p.Ser1781Cys
ENST00000371380.8:c.5390C>G MANE Select	ENSP00000360431.2:p.Ser1797Cys
ENST00000371385.8:c.4364C>G	ENSP00000360438.4:p.Ser1455Cys
ENST00000674738.1:c.3945C>G
ENST00000674827.1:c.3506C>G	ENSP00000502523.1:p.Ser1169Cys
ENST00000675218.1:c.4466C>G	ENSP00000501910.1:p.Ser1489Cys
ENST00000675487.1:c.*1323C>G	ENSP00000502340.1:n.*1323C>G
ENST00000675718.1:c.4659C>G
ENST00000260766.7:c.5390C>G	ENSP00000260766.3:p.Ser1797Cys
ENST00000371375.1:c.4466C>G	ENSP00000360426.1:p.Ser1489Cys
ENST00000371380.7:c.5390C>G	ENSP00000360431.2:p.Ser1797Cys
ENST00000371385.7:c.4466C>G	ENSP00000360438.3:p.Ser1489Cys
NM_001165979.2:c.4466C>G	NP_001159451.1:p.Ser1489Cys
NM_001288989.1:c.5342C>G	NP_001275918.1:p.Ser1781Cys
NM_016341.3:c.5390C>G	NP_057425.3:p.Ser1797Cys
XM_006717885.2:c.5432C>G	XP_006717948.1:p.Ser1811Cys
XM_006717886.2:c.5432C>G	XP_006717949.1:p.Ser1811Cys
XM_006717888.2:c.5429C>G	XP_006717951.1:p.Ser1810Cys
XM_006717889.2:c.5384C>G	XP_006717952.1:p.Ser1795Cys
XM_006717890.1:c.4508C>G	XP_006717953.1:p.Ser1503Cys
XM_011539849.1:c.5432C>G	XP_011538151.1:p.Ser1811Cys
XM_011539850.1:c.4277C>G	XP_011538152.1:p.Ser1426Cys
XM_006717885.4:c.5432C>G	XP_006717948.1:p.Ser1811Cys
XM_006717888.4:c.5429C>G	XP_006717951.1:p.Ser1810Cys
XM_006717889.4:c.5384C>G	XP_006717952.1:p.Ser1795Cys
XM_006717890.3:c.4508C>G	XP_006717953.1:p.Ser1503Cys
XM_011539849.3:c.5432C>G	XP_011538151.1:p.Ser1811Cys
XM_011539850.3:c.4277C>G	XP_011538152.1:p.Ser1426Cys
XM_017016310.2:c.5432C>G	XP_016871799.1:p.Ser1811Cys
XM_017016311.2:c.5432C>G	XP_016871800.1:p.Ser1811Cys
XM_017016312.2:c.4418C>G	XP_016871801.1:p.Ser1473Cys
NM_001288989.2:c.5342C>G	NP_001275918.1:p.Ser1781Cys
NM_016341.4:c.5390C>G MANE Select	NP_057425.3:p.Ser1797Cys