Canonical Allele Identifier: CA377642113

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94298596-C-G
• MyVariant Identifiers: chr10:g.96058353C>G (hg19) ; chr10:g.94298596C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298596C>G , CM000672.2:g.94298596C>G	GRCh38
NC_000010.10:g.96058353C>G , CM000672.1:g.96058353C>G	GRCh37
NC_000010.9:g.96048343C>G	NCBI36
NG_015799.1:g.309608C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4461C>G	ENSP00000360426.1:p.Asp1487Glu
ENST00000685253.1:c.*1928C>G	ENSP00000509405.1:n.*1928C>G
ENST00000685889.1:n.2120C>G
ENST00000686807.1:n.804C>G
ENST00000686954.1:c.*669C>G	ENSP00000508416.1:n.*669C>G
ENST00000688810.1:c.4413C>G	ENSP00000509140.1:p.Asp1471Glu
ENST00000689233.1:n.9593C>G
ENST00000690340.1:n.3058C>G
ENST00000692286.1:c.5253C>G	ENSP00000509490.1:p.Asp1751Glu
ENST00000692396.1:c.5337C>G	ENSP00000508605.1:p.Asp1779Glu
ENST00000371380.8:c.5385C>G MANE Select	ENSP00000360431.2:p.Asp1795Glu
ENST00000371385.8:c.4359C>G	ENSP00000360438.4:p.Asp1453Glu
ENST00000674738.1:c.3940C>G
ENST00000674827.1:c.3501C>G	ENSP00000502523.1:p.Asp1167Glu
ENST00000675218.1:c.4461C>G	ENSP00000501910.1:p.Asp1487Glu
ENST00000675487.1:c.*1318C>G	ENSP00000502340.1:n.*1318C>G
ENST00000675718.1:c.4654C>G
ENST00000260766.7:c.5385C>G	ENSP00000260766.3:p.Asp1795Glu
ENST00000371375.1:c.4461C>G	ENSP00000360426.1:p.Asp1487Glu
ENST00000371380.7:c.5385C>G	ENSP00000360431.2:p.Asp1795Glu
ENST00000371385.7:c.4461C>G	ENSP00000360438.3:p.Asp1487Glu
NM_001165979.2:c.4461C>G	NP_001159451.1:p.Asp1487Glu
NM_001288989.1:c.5337C>G	NP_001275918.1:p.Asp1779Glu
NM_016341.3:c.5385C>G	NP_057425.3:p.Asp1795Glu
XM_006717885.2:c.5427C>G	XP_006717948.1:p.Asp1809Glu
XM_006717886.2:c.5427C>G	XP_006717949.1:p.Asp1809Glu
XM_006717888.2:c.5424C>G	XP_006717951.1:p.Asp1808Glu
XM_006717889.2:c.5379C>G	XP_006717952.1:p.Asp1793Glu
XM_006717890.1:c.4503C>G	XP_006717953.1:p.Asp1501Glu
XM_011539849.1:c.5427C>G	XP_011538151.1:p.Asp1809Glu
XM_011539850.1:c.4272C>G	XP_011538152.1:p.Asp1424Glu
XM_006717885.4:c.5427C>G	XP_006717948.1:p.Asp1809Glu
XM_006717888.4:c.5424C>G	XP_006717951.1:p.Asp1808Glu
XM_006717889.4:c.5379C>G	XP_006717952.1:p.Asp1793Glu
XM_006717890.3:c.4503C>G	XP_006717953.1:p.Asp1501Glu
XM_011539849.3:c.5427C>G	XP_011538151.1:p.Asp1809Glu
XM_011539850.3:c.4272C>G	XP_011538152.1:p.Asp1424Glu
XM_017016310.2:c.5427C>G	XP_016871799.1:p.Asp1809Glu
XM_017016311.2:c.5427C>G	XP_016871800.1:p.Asp1809Glu
XM_017016312.2:c.4413C>G	XP_016871801.1:p.Asp1471Glu
NM_001288989.2:c.5337C>G	NP_001275918.1:p.Asp1779Glu
NM_016341.4:c.5385C>G MANE Select	NP_057425.3:p.Asp1795Glu