Canonical Allele Identifier: CA377641727

Gene: PLCE1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298414T>C , CM000672.2:g.94298414T>C	GRCh38
NC_000010.10:g.96058171T>C , CM000672.1:g.96058171T>C	GRCh37
NC_000010.9:g.96048161T>C	NCBI36
NG_015799.1:g.309426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4279T>C	ENSP00000360426.1:p.Ser1427Pro
ENST00000685253.1:c.*1746T>C	ENSP00000509405.1:n.*1746T>C
ENST00000685889.1:n.1938T>C
ENST00000686807.1:n.622T>C
ENST00000686954.1:c.*487T>C	ENSP00000508416.1:n.*487T>C
ENST00000688810.1:c.4231T>C	ENSP00000509140.1:p.Ser1411Pro
ENST00000689233.1:n.9411T>C
ENST00000690340.1:n.2876T>C
ENST00000692286.1:c.5071T>C	ENSP00000509490.1:p.Ser1691Pro
ENST00000692396.1:c.5155T>C	ENSP00000508605.1:p.Ser1719Pro
ENST00000371380.8:c.5203T>C MANE Select	ENSP00000360431.2:p.Ser1735Pro
ENST00000371385.8:c.4177T>C	ENSP00000360438.4:p.Ser1393Pro
ENST00000674738.1:c.3758T>C
ENST00000674827.1:c.3319T>C	ENSP00000502523.1:p.Ser1107Pro
ENST00000675218.1:c.4279T>C	ENSP00000501910.1:p.Ser1427Pro
ENST00000675487.1:c.*1136T>C	ENSP00000502340.1:n.*1136T>C
ENST00000675718.1:c.4472T>C
ENST00000676102.1:c.4048T>C	ENSP00000502811.1:p.Ser1350Pro
ENST00000260766.7:c.5203T>C	ENSP00000260766.3:p.Ser1735Pro
ENST00000371375.1:c.4279T>C	ENSP00000360426.1:p.Ser1427Pro
ENST00000371380.7:c.5203T>C	ENSP00000360431.2:p.Ser1735Pro
ENST00000371385.7:c.4279T>C	ENSP00000360438.3:p.Ser1427Pro
NM_001165979.2:c.4279T>C	NP_001159451.1:p.Ser1427Pro
NM_001288989.1:c.5155T>C	NP_001275918.1:p.Ser1719Pro
NM_016341.3:c.5203T>C	NP_057425.3:p.Ser1735Pro
XM_006717885.2:c.5245T>C	XP_006717948.1:p.Ser1749Pro
XM_006717886.2:c.5245T>C	XP_006717949.1:p.Ser1749Pro
XM_006717888.2:c.5242T>C	XP_006717951.1:p.Ser1748Pro
XM_006717889.2:c.5197T>C	XP_006717952.1:p.Ser1733Pro
XM_006717890.1:c.4321T>C	XP_006717953.1:p.Ser1441Pro
XM_011539849.1:c.5245T>C	XP_011538151.1:p.Ser1749Pro
XM_011539850.1:c.4090T>C	XP_011538152.1:p.Ser1364Pro
XM_006717885.4:c.5245T>C	XP_006717948.1:p.Ser1749Pro
XM_006717888.4:c.5242T>C	XP_006717951.1:p.Ser1748Pro
XM_006717889.4:c.5197T>C	XP_006717952.1:p.Ser1733Pro
XM_006717890.3:c.4321T>C	XP_006717953.1:p.Ser1441Pro
XM_011539849.3:c.5245T>C	XP_011538151.1:p.Ser1749Pro
XM_011539850.3:c.4090T>C	XP_011538152.1:p.Ser1364Pro
XM_017016310.2:c.5245T>C	XP_016871799.1:p.Ser1749Pro
XM_017016311.2:c.5245T>C	XP_016871800.1:p.Ser1749Pro
XM_017016312.2:c.4231T>C	XP_016871801.1:p.Ser1411Pro
NM_001288989.2:c.5155T>C	NP_001275918.1:p.Ser1719Pro
NM_016341.4:c.5203T>C MANE Select	NP_057425.3:p.Ser1735Pro