Canonical Allele Identifier: CA3181447580
Community Standard Title: NM_016341.4(PLCE1):c.5181C= (p.Gly1727=)
Gene: PLCE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298392C= , CM000672.2:g.94298392C= GRCh38
NC_000010.10:g.96058149C= , CM000672.1:g.96058149C= GRCh37
NC_000010.9:g.96048139C= NCBI36
NG_015799.1:g.309404C=

Transcript Alleles

HGVS Amino-acid Change
NM_016341.4:c.5181C= MANE Select NP_057425.3:p.Gly1727=
ENST00000371380.8:c.5181C= MANE Select ENSP00000360431.2:p.Gly1727=
NM_001165979.2:c.4257C= NP_001159451.1:p.Gly1419=
NM_001288989.1:c.5133C= NP_001275918.1:p.Gly1711=
NM_001288989.2:c.5133C= NP_001275918.1:p.Gly1711=
NM_016341.3:c.5181C= NP_057425.3:p.Gly1727=
ENST00000260766.7:c.5181C= ENSP00000260766.3:p.Gly1727=
ENST00000371375.1:c.4257C= ENSP00000360426.1:p.Gly1419=
ENST00000371375.2:c.4257C= ENSP00000360426.1:p.Gly1419=
ENST00000371380.7:c.5181C= ENSP00000360431.2:p.Gly1727=
ENST00000371385.7:c.4257C= ENSP00000360438.3:p.Gly1419=
ENST00000371385.8:c.4155C= ENSP00000360438.4:p.Gly1385=
ENST00000674738.1:c.3736C=
ENST00000674827.1:c.3297C= ENSP00000502523.1:p.Gly1099=
ENST00000675218.1:c.4257C= ENSP00000501910.1:p.Gly1419=
ENST00000675487.1:c.*1114C= ENSP00000502340.1:n.*1114C=
ENST00000675718.1:c.4450C=
ENST00000676102.1:c.4026C= ENSP00000502811.1:p.Gly1342=
ENST00000685253.1:c.*1724C= ENSP00000509405.1:n.*1724C=
ENST00000685889.1:n.1916C=
ENST00000686807.1:n.600C=
ENST00000686954.1:c.*465C= ENSP00000508416.1:n.*465C=
ENST00000688810.1:c.4209C= ENSP00000509140.1:p.Gly1403=
ENST00000689233.1:n.9389C=
ENST00000690340.1:n.2854C=
ENST00000692286.1:c.5049C= ENSP00000509490.1:p.Gly1683=
ENST00000692396.1:c.5133C= ENSP00000508605.1:p.Gly1711=
XM_006717885.2:c.5223C= XP_006717948.1:p.Gly1741=
XM_006717885.4:c.5223C= XP_006717948.1:p.Gly1741=
XM_006717886.2:c.5223C= XP_006717949.1:p.Gly1741=
XM_006717888.2:c.5220C= XP_006717951.1:p.Gly1740=
XM_006717888.4:c.5220C= XP_006717951.1:p.Gly1740=
XM_006717889.2:c.5175C= XP_006717952.1:p.Gly1725=
XM_006717889.4:c.5175C= XP_006717952.1:p.Gly1725=
XM_006717890.1:c.4299C= XP_006717953.1:p.Gly1433=
XM_006717890.3:c.4299C= XP_006717953.1:p.Gly1433=
XM_011539849.1:c.5223C= XP_011538151.1:p.Gly1741=
XM_011539849.3:c.5223C= XP_011538151.1:p.Gly1741=
XM_011539850.1:c.4068C= XP_011538152.1:p.Gly1356=
XM_011539850.3:c.4068C= XP_011538152.1:p.Gly1356=
XM_017016310.2:c.5223C= XP_016871799.1:p.Gly1741=
XM_017016311.2:c.5223C= XP_016871800.1:p.Gly1741=
XM_017016312.2:c.4209C= XP_016871801.1:p.Gly1403=