Canonical Allele Identifier: CA377648110

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94321910G>C , CM000672.2:g.94321910G>C GRCh38
NC_000010.10:g.96081667G>C , CM000672.1:g.96081667G>C GRCh37
NC_000010.9:g.96071657G>C NCBI36
NG_015799.1:g.332922G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.5428G>C (PLCE1) ENSP00000360426.1:p.Glu1810Gln
ENST00000685132.1:n.3751G>C (PLCE1)
ENST00000685253.1:c.*2895G>C (PLCE1) ENSP00000509405.1:n.*2895G>C
ENST00000685889.1:n.3087G>C (PLCE1)
ENST00000686807.1:n.1771G>C (PLCE1)
ENST00000686954.1:c.*1636G>C (PLCE1) ENSP00000508416.1:n.*1636G>C
ENST00000688810.1:c.5380G>C (PLCE1) ENSP00000509140.1:p.Glu1794Gln
ENST00000689233.1:n.10560G>C (PLCE1)
ENST00000690340.1:n.4025G>C (PLCE1)
ENST00000692286.1:c.6220G>C (PLCE1) ENSP00000509490.1:p.Glu2074Gln
ENST00000692396.1:c.6304G>C (PLCE1) ENSP00000508605.1:p.Glu2102Gln
ENST00000371380.8:c.6352G>C (PLCE1) MANE Select ENSP00000360431.2:p.Glu2118Gln
ENST00000371385.8:c.5326G>C (PLCE1) ENSP00000360438.4:p.Glu1776Gln
ENST00000674738.1:c.4907G>C (PLCE1)
ENST00000674827.1:c.4468G>C (PLCE1) ENSP00000502523.1:p.Glu1490Gln
ENST00000675218.1:c.5428G>C (PLCE1) ENSP00000501910.1:p.Glu1810Gln
ENST00000675487.1:c.*2285G>C (PLCE1) ENSP00000502340.1:n.*2285G>C
ENST00000675718.1:c.5621G>C (PLCE1)
ENST00000260766.7:c.6352G>C (PLCE1) ENSP00000260766.3:p.Glu2118Gln
ENST00000371375.1:c.5428G>C (PLCE1) ENSP00000360426.1:p.Glu1810Gln
ENST00000371380.7:c.6352G>C (PLCE1) ENSP00000360431.2:p.Glu2118Gln
ENST00000371385.7:c.5428G>C (PLCE1) ENSP00000360438.3:p.Glu1810Gln
NM_001165979.2:c.5428G>C (PLCE1) NP_001159451.1:p.Glu1810Gln
NM_001288989.1:c.6304G>C (PLCE1) NP_001275918.1:p.Glu2102Gln
NM_016341.3:c.6352G>C (PLCE1) NP_057425.3:p.Glu2118Gln
XM_006717885.2:c.6394G>C (PLCE1) XP_006717948.1:p.Glu2132Gln
XM_006717886.2:c.6394G>C (PLCE1) XP_006717949.1:p.Glu2132Gln
XM_006717888.2:c.6391G>C (PLCE1) XP_006717951.1:p.Glu2131Gln
XM_006717889.2:c.6346G>C (PLCE1) XP_006717952.1:p.Glu2116Gln
XM_006717890.1:c.5470G>C (PLCE1) XP_006717953.1:p.Glu1824Gln
XM_011539849.1:c.6394G>C (PLCE1) XP_011538151.1:p.Glu2132Gln
XM_011539850.1:c.5239G>C (PLCE1) XP_011538152.1:p.Glu1747Gln
XR_945799.1:n.3311-6446C>G (NOC3L)
XM_006717885.4:c.6394G>C (PLCE1) XP_006717948.1:p.Glu2132Gln
XM_006717888.4:c.6391G>C (PLCE1) XP_006717951.1:p.Glu2131Gln
XM_006717889.4:c.6346G>C (PLCE1) XP_006717952.1:p.Glu2116Gln
XM_006717890.3:c.5470G>C (PLCE1) XP_006717953.1:p.Glu1824Gln
XM_011539849.3:c.6394G>C (PLCE1) XP_011538151.1:p.Glu2132Gln
XM_011539850.3:c.5239G>C (PLCE1) XP_011538152.1:p.Glu1747Gln
XM_017016310.2:c.6394G>C (PLCE1) XP_016871799.1:p.Glu2132Gln
XM_017016311.2:c.6394G>C (PLCE1) XP_016871800.1:p.Glu2132Gln
XM_017016312.2:c.5380G>C (PLCE1) XP_016871801.1:p.Glu1794Gln
XR_002957007.1:n.3312-6446C>G (NOC3L)
NM_001288989.2:c.6304G>C (PLCE1) NP_001275918.1:p.Glu2102Gln
NM_016341.4:c.6352G>C (PLCE1) MANE Select NP_057425.3:p.Glu2118Gln