Canonical Allele Identifier: CA1929016945

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94321906A= , CM000672.2:g.94321906A= GRCh38
NC_000010.10:g.96081663A= , CM000672.1:g.96081663A= GRCh37
NC_000010.9:g.96071653A= NCBI36
NG_015799.1:g.332918A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5424A= (PLCE1) ENSP00000360426.1:p.Leu1808=
ENST00000685132.1:n.3747A= (PLCE1)
ENST00000685253.1:c.*2891A= (PLCE1) ENSP00000509405.1:n.*2891A=
ENST00000685889.1:n.3083A= (PLCE1)
ENST00000686807.1:n.1767A= (PLCE1)
ENST00000686954.1:c.*1632A= (PLCE1) ENSP00000508416.1:n.*1632A=
ENST00000688810.1:c.5376A= (PLCE1) ENSP00000509140.1:p.Leu1792=
ENST00000689233.1:n.10556A= (PLCE1)
ENST00000690340.1:n.4021A= (PLCE1)
ENST00000692286.1:c.6216A= (PLCE1) ENSP00000509490.1:p.Leu2072=
ENST00000692396.1:c.6300A= (PLCE1) ENSP00000508605.1:p.Leu2100=
ENST00000371380.8:c.6348A= (PLCE1) MANE Select ENSP00000360431.2:p.Leu2116=
ENST00000371385.8:c.5322A= (PLCE1) ENSP00000360438.4:p.Leu1774=
ENST00000674738.1:c.4903A= (PLCE1)
ENST00000674827.1:c.4464A= (PLCE1) ENSP00000502523.1:p.Leu1488=
ENST00000675218.1:c.5424A= (PLCE1) ENSP00000501910.1:p.Leu1808=
ENST00000675487.1:c.*2281A= (PLCE1) ENSP00000502340.1:n.*2281A=
ENST00000675718.1:c.5617A= (PLCE1)
ENST00000260766.7:c.6348A= (PLCE1) ENSP00000260766.3:p.Leu2116=
ENST00000371375.1:c.5424A= (PLCE1) ENSP00000360426.1:p.Leu1808=
ENST00000371380.7:c.6348A= (PLCE1) ENSP00000360431.2:p.Leu2116=
ENST00000371385.7:c.5424A= (PLCE1) ENSP00000360438.3:p.Leu1808=
NM_001165979.2:c.5424A= (PLCE1) NP_001159451.1:p.Leu1808=
NM_001288989.1:c.6300A= (PLCE1) NP_001275918.1:p.Leu2100=
NM_016341.3:c.6348A= (PLCE1) NP_057425.3:p.Leu2116=
XM_006717885.2:c.6390A= (PLCE1) XP_006717948.1:p.Leu2130=
XM_006717886.2:c.6390A= (PLCE1) XP_006717949.1:p.Leu2130=
XM_006717888.2:c.6387A= (PLCE1) XP_006717951.1:p.Leu2129=
XM_006717889.2:c.6342A= (PLCE1) XP_006717952.1:p.Leu2114=
XM_006717890.1:c.5466A= (PLCE1) XP_006717953.1:p.Leu1822=
XM_011539849.1:c.6390A= (PLCE1) XP_011538151.1:p.Leu2130=
XM_011539850.1:c.5235A= (PLCE1) XP_011538152.1:p.Leu1745=
XR_945799.1:n.3311-6442T= (NOC3L)
XM_006717885.4:c.6390A= (PLCE1) XP_006717948.1:p.Leu2130=
XM_006717888.4:c.6387A= (PLCE1) XP_006717951.1:p.Leu2129=
XM_006717889.4:c.6342A= (PLCE1) XP_006717952.1:p.Leu2114=
XM_006717890.3:c.5466A= (PLCE1) XP_006717953.1:p.Leu1822=
XM_011539849.3:c.6390A= (PLCE1) XP_011538151.1:p.Leu2130=
XM_011539850.3:c.5235A= (PLCE1) XP_011538152.1:p.Leu1745=
XM_017016310.2:c.6390A= (PLCE1) XP_016871799.1:p.Leu2130=
XM_017016311.2:c.6390A= (PLCE1) XP_016871800.1:p.Leu2130=
XM_017016312.2:c.5376A= (PLCE1) XP_016871801.1:p.Leu1792=
XR_002957007.1:n.3312-6442T= (NOC3L)
NM_001288989.2:c.6300A= (PLCE1) NP_001275918.1:p.Leu2100=
NM_016341.4:c.6348A= (PLCE1) MANE Select NP_057425.3:p.Leu2116=