Canonical Allele Identifier: CA377648165

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94321933C>A , CM000672.2:g.94321933C>A GRCh38
NC_000010.10:g.96081690C>A , CM000672.1:g.96081690C>A GRCh37
NC_000010.9:g.96071680C>A NCBI36
NG_015799.1:g.332945C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5451C>A (PLCE1) ENSP00000360426.1:p.Asp1817Glu
ENST00000685132.1:n.3774C>A (PLCE1)
ENST00000685253.1:c.*2918C>A (PLCE1) ENSP00000509405.1:n.*2918C>A
ENST00000685889.1:n.3110C>A (PLCE1)
ENST00000686807.1:n.1794C>A (PLCE1)
ENST00000686954.1:c.*1659C>A (PLCE1) ENSP00000508416.1:n.*1659C>A
ENST00000688810.1:c.5403C>A (PLCE1) ENSP00000509140.1:p.Asp1801Glu
ENST00000689233.1:n.10583C>A (PLCE1)
ENST00000690340.1:n.4048C>A (PLCE1)
ENST00000692286.1:c.6243C>A (PLCE1) ENSP00000509490.1:p.Asp2081Glu
ENST00000692396.1:c.6327C>A (PLCE1) ENSP00000508605.1:p.Asp2109Glu
ENST00000371380.8:c.6375C>A (PLCE1) MANE Select ENSP00000360431.2:p.Asp2125Glu
ENST00000371385.8:c.5349C>A (PLCE1) ENSP00000360438.4:p.Asp1783Glu
ENST00000674738.1:c.4930C>A (PLCE1)
ENST00000674827.1:c.4491C>A (PLCE1) ENSP00000502523.1:p.Asp1497Glu
ENST00000675218.1:c.5451C>A (PLCE1) ENSP00000501910.1:p.Asp1817Glu
ENST00000675487.1:c.*2308C>A (PLCE1) ENSP00000502340.1:n.*2308C>A
ENST00000675718.1:c.5644C>A (PLCE1)
ENST00000260766.7:c.6375C>A (PLCE1) ENSP00000260766.3:p.Asp2125Glu
ENST00000371375.1:c.5451C>A (PLCE1) ENSP00000360426.1:p.Asp1817Glu
ENST00000371380.7:c.6375C>A (PLCE1) ENSP00000360431.2:p.Asp2125Glu
ENST00000371385.7:c.5451C>A (PLCE1) ENSP00000360438.3:p.Asp1817Glu
NM_001165979.2:c.5451C>A (PLCE1) NP_001159451.1:p.Asp1817Glu
NM_001288989.1:c.6327C>A (PLCE1) NP_001275918.1:p.Asp2109Glu
NM_016341.3:c.6375C>A (PLCE1) NP_057425.3:p.Asp2125Glu
XM_006717885.2:c.6417C>A (PLCE1) XP_006717948.1:p.Asp2139Glu
XM_006717886.2:c.6417C>A (PLCE1) XP_006717949.1:p.Asp2139Glu
XM_006717888.2:c.6414C>A (PLCE1) XP_006717951.1:p.Asp2138Glu
XM_006717889.2:c.6369C>A (PLCE1) XP_006717952.1:p.Asp2123Glu
XM_006717890.1:c.5493C>A (PLCE1) XP_006717953.1:p.Asp1831Glu
XM_011539849.1:c.6417C>A (PLCE1) XP_011538151.1:p.Asp2139Glu
XM_011539850.1:c.5262C>A (PLCE1) XP_011538152.1:p.Asp1754Glu
XR_945799.1:n.3311-6469G>T (NOC3L)
XM_006717885.4:c.6417C>A (PLCE1) XP_006717948.1:p.Asp2139Glu
XM_006717888.4:c.6414C>A (PLCE1) XP_006717951.1:p.Asp2138Glu
XM_006717889.4:c.6369C>A (PLCE1) XP_006717952.1:p.Asp2123Glu
XM_006717890.3:c.5493C>A (PLCE1) XP_006717953.1:p.Asp1831Glu
XM_011539849.3:c.6417C>A (PLCE1) XP_011538151.1:p.Asp2139Glu
XM_011539850.3:c.5262C>A (PLCE1) XP_011538152.1:p.Asp1754Glu
XM_017016310.2:c.6417C>A (PLCE1) XP_016871799.1:p.Asp2139Glu
XM_017016311.2:c.6417C>A (PLCE1) XP_016871800.1:p.Asp2139Glu
XM_017016312.2:c.5403C>A (PLCE1) XP_016871801.1:p.Asp1801Glu
XR_002957007.1:n.3312-6469G>T (NOC3L)
NM_001288989.2:c.6327C>A (PLCE1) NP_001275918.1:p.Asp2109Glu
NM_016341.4:c.6375C>A (PLCE1) MANE Select NP_057425.3:p.Asp2125Glu