Canonical Allele Identifier: CA1929017012

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94321976C= , CM000672.2:g.94321976C= GRCh38
NC_000010.10:g.96081733C= , CM000672.1:g.96081733C= GRCh37
NC_000010.9:g.96071723C= NCBI36
NG_015799.1:g.332988C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5494C= (PLCE1) ENSP00000360426.1:p.Gln1832=
ENST00000685132.1:n.3817C= (PLCE1)
ENST00000685253.1:c.*2961C= (PLCE1) ENSP00000509405.1:n.*2961C=
ENST00000685889.1:n.3153C= (PLCE1)
ENST00000686807.1:n.1837C= (PLCE1)
ENST00000686954.1:c.*1702C= (PLCE1) ENSP00000508416.1:n.*1702C=
ENST00000688810.1:c.5446C= (PLCE1) ENSP00000509140.1:p.Gln1816=
ENST00000689233.1:n.10626C= (PLCE1)
ENST00000690340.1:n.4091C= (PLCE1)
ENST00000692286.1:c.6286C= (PLCE1) ENSP00000509490.1:p.Gln2096=
ENST00000692396.1:c.6370C= (PLCE1) ENSP00000508605.1:p.Gln2124=
ENST00000371380.8:c.6418C= (PLCE1) MANE Select ENSP00000360431.2:p.Gln2140=
ENST00000371385.8:c.5392C= (PLCE1) ENSP00000360438.4:p.Gln1798=
ENST00000674738.1:c.4973C= (PLCE1)
ENST00000674827.1:c.4534C= (PLCE1) ENSP00000502523.1:p.Gln1512=
ENST00000675218.1:c.5494C= (PLCE1) ENSP00000501910.1:p.Gln1832=
ENST00000675487.1:c.*2351C= (PLCE1) ENSP00000502340.1:n.*2351C=
ENST00000675718.1:c.5687C= (PLCE1)
ENST00000260766.7:c.6418C= (PLCE1) ENSP00000260766.3:p.Gln2140=
ENST00000371375.1:c.5494C= (PLCE1) ENSP00000360426.1:p.Gln1832=
ENST00000371380.7:c.6418C= (PLCE1) ENSP00000360431.2:p.Gln2140=
ENST00000371385.7:c.5494C= (PLCE1) ENSP00000360438.3:p.Gln1832=
NM_001165979.2:c.5494C= (PLCE1) NP_001159451.1:p.Gln1832=
NM_001288989.1:c.6370C= (PLCE1) NP_001275918.1:p.Gln2124=
NM_016341.3:c.6418C= (PLCE1) NP_057425.3:p.Gln2140=
XM_006717885.2:c.6460C= (PLCE1) XP_006717948.1:p.Gln2154=
XM_006717886.2:c.6460C= (PLCE1) XP_006717949.1:p.Gln2154=
XM_006717888.2:c.6457C= (PLCE1) XP_006717951.1:p.Gln2153=
XM_006717889.2:c.6412C= (PLCE1) XP_006717952.1:p.Gln2138=
XM_006717890.1:c.5536C= (PLCE1) XP_006717953.1:p.Gln1846=
XM_011539849.1:c.6460C= (PLCE1) XP_011538151.1:p.Gln2154=
XM_011539850.1:c.5305C= (PLCE1) XP_011538152.1:p.Gln1769=
XR_945799.1:n.3311-6512G= (NOC3L)
XM_006717885.4:c.6460C= (PLCE1) XP_006717948.1:p.Gln2154=
XM_006717888.4:c.6457C= (PLCE1) XP_006717951.1:p.Gln2153=
XM_006717889.4:c.6412C= (PLCE1) XP_006717952.1:p.Gln2138=
XM_006717890.3:c.5536C= (PLCE1) XP_006717953.1:p.Gln1846=
XM_011539849.3:c.6460C= (PLCE1) XP_011538151.1:p.Gln2154=
XM_011539850.3:c.5305C= (PLCE1) XP_011538152.1:p.Gln1769=
XM_017016310.2:c.6460C= (PLCE1) XP_016871799.1:p.Gln2154=
XM_017016311.2:c.6460C= (PLCE1) XP_016871800.1:p.Gln2154=
XM_017016312.2:c.5446C= (PLCE1) XP_016871801.1:p.Gln1816=
XR_002957007.1:n.3312-6512G= (NOC3L)
NM_001288989.2:c.6370C= (PLCE1) NP_001275918.1:p.Gln2124=
NM_016341.4:c.6418C= (PLCE1) MANE Select NP_057425.3:p.Gln2140=