Canonical Allele Identifier: CA377641734

Gene: PLCE1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298417T>C , CM000672.2:g.94298417T>C	GRCh38
NC_000010.10:g.96058174T>C , CM000672.1:g.96058174T>C	GRCh37
NC_000010.9:g.96048164T>C	NCBI36
NG_015799.1:g.309429T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4282T>C	ENSP00000360426.1:p.Ser1428Pro
ENST00000685253.1:c.*1749T>C	ENSP00000509405.1:n.*1749T>C
ENST00000685889.1:n.1941T>C
ENST00000686807.1:n.625T>C
ENST00000686954.1:c.*490T>C	ENSP00000508416.1:n.*490T>C
ENST00000688810.1:c.4234T>C	ENSP00000509140.1:p.Ser1412Pro
ENST00000689233.1:n.9414T>C
ENST00000690340.1:n.2879T>C
ENST00000692286.1:c.5074T>C	ENSP00000509490.1:p.Ser1692Pro
ENST00000692396.1:c.5158T>C	ENSP00000508605.1:p.Ser1720Pro
ENST00000371380.8:c.5206T>C MANE Select	ENSP00000360431.2:p.Ser1736Pro
ENST00000371385.8:c.4180T>C	ENSP00000360438.4:p.Ser1394Pro
ENST00000674738.1:c.3761T>C
ENST00000674827.1:c.3322T>C	ENSP00000502523.1:p.Ser1108Pro
ENST00000675218.1:c.4282T>C	ENSP00000501910.1:p.Ser1428Pro
ENST00000675487.1:c.*1139T>C	ENSP00000502340.1:n.*1139T>C
ENST00000675718.1:c.4475T>C
ENST00000676102.1:c.4051T>C	ENSP00000502811.1:p.Ser1351Pro
ENST00000260766.7:c.5206T>C	ENSP00000260766.3:p.Ser1736Pro
ENST00000371375.1:c.4282T>C	ENSP00000360426.1:p.Ser1428Pro
ENST00000371380.7:c.5206T>C	ENSP00000360431.2:p.Ser1736Pro
ENST00000371385.7:c.4282T>C	ENSP00000360438.3:p.Ser1428Pro
NM_001165979.2:c.4282T>C	NP_001159451.1:p.Ser1428Pro
NM_001288989.1:c.5158T>C	NP_001275918.1:p.Ser1720Pro
NM_016341.3:c.5206T>C	NP_057425.3:p.Ser1736Pro
XM_006717885.2:c.5248T>C	XP_006717948.1:p.Ser1750Pro
XM_006717886.2:c.5248T>C	XP_006717949.1:p.Ser1750Pro
XM_006717888.2:c.5245T>C	XP_006717951.1:p.Ser1749Pro
XM_006717889.2:c.5200T>C	XP_006717952.1:p.Ser1734Pro
XM_006717890.1:c.4324T>C	XP_006717953.1:p.Ser1442Pro
XM_011539849.1:c.5248T>C	XP_011538151.1:p.Ser1750Pro
XM_011539850.1:c.4093T>C	XP_011538152.1:p.Ser1365Pro
XM_006717885.4:c.5248T>C	XP_006717948.1:p.Ser1750Pro
XM_006717888.4:c.5245T>C	XP_006717951.1:p.Ser1749Pro
XM_006717889.4:c.5200T>C	XP_006717952.1:p.Ser1734Pro
XM_006717890.3:c.4324T>C	XP_006717953.1:p.Ser1442Pro
XM_011539849.3:c.5248T>C	XP_011538151.1:p.Ser1750Pro
XM_011539850.3:c.4093T>C	XP_011538152.1:p.Ser1365Pro
XM_017016310.2:c.5248T>C	XP_016871799.1:p.Ser1750Pro
XM_017016311.2:c.5248T>C	XP_016871800.1:p.Ser1750Pro
XM_017016312.2:c.4234T>C	XP_016871801.1:p.Ser1412Pro
NM_001288989.2:c.5158T>C	NP_001275918.1:p.Ser1720Pro
NM_016341.4:c.5206T>C MANE Select	NP_057425.3:p.Ser1736Pro