Canonical Allele Identifier: CA377641780

Gene: PLCE1

Linked Data

• gnomAD: 10:96058199 C / A
• MyVariant Identifiers: chr10:g.96058199C>A (hg19) ; chr10:g.94298442C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298442C>A , CM000672.2:g.94298442C>A	GRCh38
NC_000010.10:g.96058199C>A , CM000672.1:g.96058199C>A	GRCh37
NC_000010.9:g.96048189C>A	NCBI36
NG_015799.1:g.309454C>A

Transcript Alleles

HGVS	Amino-acid change
NM_001165979.2:c.4307C>A	NP_001159451.1:p.Ser1436Tyr
NM_001288989.1:c.5183C>A	NP_001275918.1:p.Ser1728Tyr
NM_016341.3:c.5231C>A	NP_057425.3:p.Ser1744Tyr
XM_006717885.2:c.5273C>A	XP_006717948.1:p.Ser1758Tyr
XM_006717886.2:c.5273C>A	XP_006717949.1:p.Ser1758Tyr
XM_006717888.2:c.5270C>A	XP_006717951.1:p.Ser1757Tyr
XM_006717889.2:c.5225C>A	XP_006717952.1:p.Ser1742Tyr
XM_006717890.1:c.4349C>A	XP_006717953.1:p.Ser1450Tyr
XM_011539849.1:c.5273C>A	XP_011538151.1:p.Ser1758Tyr
XM_011539850.1:c.4118C>A	XP_011538152.1:p.Ser1373Tyr
XM_006717885.4:c.5273C>A	XP_006717948.1:p.Ser1758Tyr
XM_006717888.4:c.5270C>A	XP_006717951.1:p.Ser1757Tyr
XM_006717889.4:c.5225C>A	XP_006717952.1:p.Ser1742Tyr
XM_006717890.3:c.4349C>A	XP_006717953.1:p.Ser1450Tyr
XM_011539849.3:c.5273C>A	XP_011538151.1:p.Ser1758Tyr
XM_011539850.3:c.4118C>A	XP_011538152.1:p.Ser1373Tyr
XM_017016310.2:c.5273C>A	XP_016871799.1:p.Ser1758Tyr
XM_017016311.2:c.5273C>A	XP_016871800.1:p.Ser1758Tyr
XM_017016312.2:c.4259C>A	XP_016871801.1:p.Ser1420Tyr
NM_001288989.2:c.5183C>A	NP_001275918.1:p.Ser1728Tyr
NM_016341.4:c.5231C>A MANE Select	NP_057425.3:p.Ser1744Tyr
ENST00000260766.7:c.5231C>A	ENSP00000260766.3:p.Ser1744Tyr
ENST00000371375.1:n.4307C>A	ENSP00000360426.1:p.Ser1436Tyr
ENST00000371380.7:c.5231C>A	ENSP00000360431.2:p.Ser1744Tyr
ENST00000371385.7:c.4307C>A	ENSP00000360438.3:p.Ser1436Tyr