Canonical Allele Identifier: CA377641866

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058236T>G (hg19) ; chr10:g.94298479T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298479T>G , CM000672.2:g.94298479T>G	GRCh38
NC_000010.10:g.96058236T>G , CM000672.1:g.96058236T>G	GRCh37
NC_000010.9:g.96048226T>G	NCBI36
NG_015799.1:g.309491T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4344T>G	ENSP00000360426.1:p.His1448Gln
ENST00000685253.1:c.*1811T>G	ENSP00000509405.1:n.*1811T>G
ENST00000685889.1:n.2003T>G
ENST00000686807.1:n.687T>G
ENST00000686954.1:c.*552T>G	ENSP00000508416.1:n.*552T>G
ENST00000688810.1:c.4296T>G	ENSP00000509140.1:p.His1432Gln
ENST00000689233.1:n.9476T>G
ENST00000690340.1:n.2941T>G
ENST00000692286.1:c.5136T>G	ENSP00000509490.1:p.His1712Gln
ENST00000692396.1:c.5220T>G	ENSP00000508605.1:p.His1740Gln
ENST00000371380.8:c.5268T>G MANE Select	ENSP00000360431.2:p.His1756Gln
ENST00000371385.8:c.4242T>G	ENSP00000360438.4:p.His1414Gln
ENST00000674738.1:c.3823T>G
ENST00000674827.1:c.3384T>G	ENSP00000502523.1:p.His1128Gln
ENST00000675218.1:c.4344T>G	ENSP00000501910.1:p.His1448Gln
ENST00000675487.1:c.*1201T>G	ENSP00000502340.1:n.*1201T>G
ENST00000675718.1:c.4537T>G
ENST00000260766.7:c.5268T>G	ENSP00000260766.3:p.His1756Gln
ENST00000371375.1:c.4344T>G	ENSP00000360426.1:p.His1448Gln
ENST00000371380.7:c.5268T>G	ENSP00000360431.2:p.His1756Gln
ENST00000371385.7:c.4344T>G	ENSP00000360438.3:p.His1448Gln
NM_001165979.2:c.4344T>G	NP_001159451.1:p.His1448Gln
NM_001288989.1:c.5220T>G	NP_001275918.1:p.His1740Gln
NM_016341.3:c.5268T>G	NP_057425.3:p.His1756Gln
XM_006717885.2:c.5310T>G	XP_006717948.1:p.His1770Gln
XM_006717886.2:c.5310T>G	XP_006717949.1:p.His1770Gln
XM_006717888.2:c.5307T>G	XP_006717951.1:p.His1769Gln
XM_006717889.2:c.5262T>G	XP_006717952.1:p.His1754Gln
XM_006717890.1:c.4386T>G	XP_006717953.1:p.His1462Gln
XM_011539849.1:c.5310T>G	XP_011538151.1:p.His1770Gln
XM_011539850.1:c.4155T>G	XP_011538152.1:p.His1385Gln
XM_006717885.4:c.5310T>G	XP_006717948.1:p.His1770Gln
XM_006717888.4:c.5307T>G	XP_006717951.1:p.His1769Gln
XM_006717889.4:c.5262T>G	XP_006717952.1:p.His1754Gln
XM_006717890.3:c.4386T>G	XP_006717953.1:p.His1462Gln
XM_011539849.3:c.5310T>G	XP_011538151.1:p.His1770Gln
XM_011539850.3:c.4155T>G	XP_011538152.1:p.His1385Gln
XM_017016310.2:c.5310T>G	XP_016871799.1:p.His1770Gln
XM_017016311.2:c.5310T>G	XP_016871800.1:p.His1770Gln
XM_017016312.2:c.4296T>G	XP_016871801.1:p.His1432Gln
NM_001288989.2:c.5220T>G	NP_001275918.1:p.His1740Gln
NM_016341.4:c.5268T>G MANE Select	NP_057425.3:p.His1756Gln