Canonical Allele Identifier: CA377641805
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298453A>T , CM000672.2:g.94298453A>T GRCh38
NC_000010.10:g.96058210A>T , CM000672.1:g.96058210A>T GRCh37
NC_000010.9:g.96048200A>T NCBI36
NG_015799.1:g.309465A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4318A>T ENSP00000360426.1:p.Ile1440Phe
ENST00000685253.1:c.*1785A>T ENSP00000509405.1:n.*1785A>T
ENST00000685889.1:n.1977A>T
ENST00000686807.1:n.661A>T
ENST00000686954.1:c.*526A>T ENSP00000508416.1:n.*526A>T
ENST00000688810.1:c.4270A>T ENSP00000509140.1:p.Ile1424Phe
ENST00000689233.1:n.9450A>T
ENST00000690340.1:n.2915A>T
ENST00000692286.1:c.5110A>T ENSP00000509490.1:p.Ile1704Phe
ENST00000692396.1:c.5194A>T ENSP00000508605.1:p.Ile1732Phe
ENST00000371380.8:c.5242A>T MANE Select ENSP00000360431.2:p.Ile1748Phe
ENST00000371385.8:c.4216A>T ENSP00000360438.4:p.Ile1406Phe
ENST00000674738.1:c.3797A>T
ENST00000674827.1:c.3358A>T ENSP00000502523.1:p.Ile1120Phe
ENST00000675218.1:c.4318A>T ENSP00000501910.1:p.Ile1440Phe
ENST00000675487.1:c.*1175A>T ENSP00000502340.1:n.*1175A>T
ENST00000675718.1:c.4511A>T
ENST00000676102.1:c.4087A>T ENSP00000502811.1:p.Ile1363Phe
ENST00000260766.7:c.5242A>T ENSP00000260766.3:p.Ile1748Phe
ENST00000371375.1:c.4318A>T ENSP00000360426.1:p.Ile1440Phe
ENST00000371380.7:c.5242A>T ENSP00000360431.2:p.Ile1748Phe
ENST00000371385.7:c.4318A>T ENSP00000360438.3:p.Ile1440Phe
NM_001165979.2:c.4318A>T NP_001159451.1:p.Ile1440Phe
NM_001288989.1:c.5194A>T NP_001275918.1:p.Ile1732Phe
NM_016341.3:c.5242A>T NP_057425.3:p.Ile1748Phe
XM_006717885.2:c.5284A>T XP_006717948.1:p.Ile1762Phe
XM_006717886.2:c.5284A>T XP_006717949.1:p.Ile1762Phe
XM_006717888.2:c.5281A>T XP_006717951.1:p.Ile1761Phe
XM_006717889.2:c.5236A>T XP_006717952.1:p.Ile1746Phe
XM_006717890.1:c.4360A>T XP_006717953.1:p.Ile1454Phe
XM_011539849.1:c.5284A>T XP_011538151.1:p.Ile1762Phe
XM_011539850.1:c.4129A>T XP_011538152.1:p.Ile1377Phe
XM_006717885.4:c.5284A>T XP_006717948.1:p.Ile1762Phe
XM_006717888.4:c.5281A>T XP_006717951.1:p.Ile1761Phe
XM_006717889.4:c.5236A>T XP_006717952.1:p.Ile1746Phe
XM_006717890.3:c.4360A>T XP_006717953.1:p.Ile1454Phe
XM_011539849.3:c.5284A>T XP_011538151.1:p.Ile1762Phe
XM_011539850.3:c.4129A>T XP_011538152.1:p.Ile1377Phe
XM_017016310.2:c.5284A>T XP_016871799.1:p.Ile1762Phe
XM_017016311.2:c.5284A>T XP_016871800.1:p.Ile1762Phe
XM_017016312.2:c.4270A>T XP_016871801.1:p.Ile1424Phe
NM_001288989.2:c.5194A>T NP_001275918.1:p.Ile1732Phe
NM_016341.4:c.5242A>T MANE Select NP_057425.3:p.Ile1748Phe