Canonical Allele Identifier: CA377640984
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94293639A>C , CM000672.2:g.94293639A>C GRCh38
NC_000010.10:g.96053396A>C , CM000672.1:g.96053396A>C GRCh37
NC_000010.9:g.96043386A>C NCBI36
NG_015799.1:g.304651A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4243A>C ENSP00000360426.1:p.Ser1415Arg
ENST00000685253.1:c.*1710A>C ENSP00000509405.1:n.*1710A>C
ENST00000685889.1:n.1902A>C
ENST00000686807.1:n.586A>C
ENST00000686954.1:c.*451A>C ENSP00000508416.1:n.*451A>C
ENST00000688810.1:c.4195A>C ENSP00000509140.1:p.Ser1399Arg
ENST00000689233.1:n.9375A>C
ENST00000690340.1:n.2840A>C
ENST00000692286.1:c.5036-4740A>C ENSP00000509490.1:n.5036-4740A>C
ENST00000692396.1:c.5119A>C ENSP00000508605.1:p.Ser1707Arg
ENST00000371380.8:c.5167A>C MANE Select ENSP00000360431.2:p.Ser1723Arg
ENST00000371385.8:c.4141A>C ENSP00000360438.4:p.Ser1381Arg
ENST00000674738.1:c.3722A>C
ENST00000674827.1:c.3283A>C ENSP00000502523.1:p.Ser1095Arg
ENST00000675218.1:c.4243A>C ENSP00000501910.1:p.Ser1415Arg
ENST00000675487.1:c.*1100A>C ENSP00000502340.1:n.*1100A>C
ENST00000675718.1:c.4436A>C
ENST00000676102.1:c.4012A>C ENSP00000502811.1:p.Ser1338Arg
ENST00000260766.7:c.5167A>C ENSP00000260766.3:p.Ser1723Arg
ENST00000371375.1:c.4243A>C ENSP00000360426.1:p.Ser1415Arg
ENST00000371380.7:c.5167A>C ENSP00000360431.2:p.Ser1723Arg
ENST00000371385.7:c.4243A>C ENSP00000360438.3:p.Ser1415Arg
NM_001165979.2:c.4243A>C NP_001159451.1:p.Ser1415Arg
NM_001288989.1:c.5119A>C NP_001275918.1:p.Ser1707Arg
NM_016341.3:c.5167A>C NP_057425.3:p.Ser1723Arg
XM_006717885.2:c.5209A>C XP_006717948.1:p.Ser1737Arg
XM_006717886.2:c.5209A>C XP_006717949.1:p.Ser1737Arg
XM_006717888.2:c.5206A>C XP_006717951.1:p.Ser1736Arg
XM_006717889.2:c.5161A>C XP_006717952.1:p.Ser1721Arg
XM_006717890.1:c.4285A>C XP_006717953.1:p.Ser1429Arg
XM_011539849.1:c.5209A>C XP_011538151.1:p.Ser1737Arg
XM_011539850.1:c.4054A>C XP_011538152.1:p.Ser1352Arg
XM_006717885.4:c.5209A>C XP_006717948.1:p.Ser1737Arg
XM_006717888.4:c.5206A>C XP_006717951.1:p.Ser1736Arg
XM_006717889.4:c.5161A>C XP_006717952.1:p.Ser1721Arg
XM_006717890.3:c.4285A>C XP_006717953.1:p.Ser1429Arg
XM_011539849.3:c.5209A>C XP_011538151.1:p.Ser1737Arg
XM_011539850.3:c.4054A>C XP_011538152.1:p.Ser1352Arg
XM_017016310.2:c.5209A>C XP_016871799.1:p.Ser1737Arg
XM_017016311.2:c.5209A>C XP_016871800.1:p.Ser1737Arg
XM_017016312.2:c.4195A>C XP_016871801.1:p.Ser1399Arg
NM_001288989.2:c.5119A>C NP_001275918.1:p.Ser1707Arg
NM_016341.4:c.5167A>C MANE Select NP_057425.3:p.Ser1723Arg