Canonical Allele Identifier: CA377641675

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298390G>A , CM000672.2:g.94298390G>A	GRCh38
NC_000010.10:g.96058147G>A , CM000672.1:g.96058147G>A	GRCh37
NC_000010.9:g.96048137G>A	NCBI36
NG_015799.1:g.309402G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5179G>A MANE Select	NP_057425.3:p.Gly1727Ser
ENST00000371380.8:c.5179G>A MANE Select	ENSP00000360431.2:p.Gly1727Ser
NM_001165979.2:c.4255G>A	NP_001159451.1:p.Gly1419Ser
NM_001288989.1:c.5131G>A	NP_001275918.1:p.Gly1711Ser
NM_001288989.2:c.5131G>A	NP_001275918.1:p.Gly1711Ser
NM_016341.3:c.5179G>A	NP_057425.3:p.Gly1727Ser
ENST00000260766.7:c.5179G>A	ENSP00000260766.3:p.Gly1727Ser
ENST00000371375.1:c.4255G>A	ENSP00000360426.1:p.Gly1419Ser
ENST00000371375.2:c.4255G>A	ENSP00000360426.1:p.Gly1419Ser
ENST00000371380.7:c.5179G>A	ENSP00000360431.2:p.Gly1727Ser
ENST00000371385.7:c.4255G>A	ENSP00000360438.3:p.Gly1419Ser
ENST00000371385.8:c.4153G>A	ENSP00000360438.4:p.Gly1385Ser
ENST00000674738.1:c.3734G>A
ENST00000674827.1:c.3295G>A	ENSP00000502523.1:p.Gly1099Ser
ENST00000675218.1:c.4255G>A	ENSP00000501910.1:p.Gly1419Ser
ENST00000675487.1:c.*1112G>A	ENSP00000502340.1:n.*1112G>A
ENST00000675718.1:c.4448G>A
ENST00000676102.1:c.4024G>A	ENSP00000502811.1:p.Gly1342Ser
ENST00000685253.1:c.*1722G>A	ENSP00000509405.1:n.*1722G>A
ENST00000685889.1:n.1914G>A
ENST00000686807.1:n.598G>A
ENST00000686954.1:c.*463G>A	ENSP00000508416.1:n.*463G>A
ENST00000688810.1:c.4207G>A	ENSP00000509140.1:p.Gly1403Ser
ENST00000689233.1:n.9387G>A
ENST00000690340.1:n.2852G>A
ENST00000692286.1:c.5047G>A	ENSP00000509490.1:p.Gly1683Ser
ENST00000692396.1:c.5131G>A	ENSP00000508605.1:p.Gly1711Ser
XM_006717885.2:c.5221G>A	XP_006717948.1:p.Gly1741Ser
XM_006717885.4:c.5221G>A	XP_006717948.1:p.Gly1741Ser
XM_006717886.2:c.5221G>A	XP_006717949.1:p.Gly1741Ser
XM_006717888.2:c.5218G>A	XP_006717951.1:p.Gly1740Ser
XM_006717888.4:c.5218G>A	XP_006717951.1:p.Gly1740Ser
XM_006717889.2:c.5173G>A	XP_006717952.1:p.Gly1725Ser
XM_006717889.4:c.5173G>A	XP_006717952.1:p.Gly1725Ser
XM_006717890.1:c.4297G>A	XP_006717953.1:p.Gly1433Ser
XM_006717890.3:c.4297G>A	XP_006717953.1:p.Gly1433Ser
XM_011539849.1:c.5221G>A	XP_011538151.1:p.Gly1741Ser
XM_011539849.3:c.5221G>A	XP_011538151.1:p.Gly1741Ser
XM_011539850.1:c.4066G>A	XP_011538152.1:p.Gly1356Ser
XM_011539850.3:c.4066G>A	XP_011538152.1:p.Gly1356Ser
XM_017016310.2:c.5221G>A	XP_016871799.1:p.Gly1741Ser
XM_017016311.2:c.5221G>A	XP_016871800.1:p.Gly1741Ser
XM_017016312.2:c.4207G>A	XP_016871801.1:p.Gly1403Ser