Canonical Allele Identifier: CA377641824
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298462A>T , CM000672.2:g.94298462A>T GRCh38
NC_000010.10:g.96058219A>T , CM000672.1:g.96058219A>T GRCh37
NC_000010.9:g.96048209A>T NCBI36
NG_015799.1:g.309474A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4327A>T ENSP00000360426.1:p.Thr1443Ser
ENST00000685253.1:c.*1794A>T ENSP00000509405.1:n.*1794A>T
ENST00000685889.1:n.1986A>T
ENST00000686807.1:n.670A>T
ENST00000686954.1:c.*535A>T ENSP00000508416.1:n.*535A>T
ENST00000688810.1:c.4279A>T ENSP00000509140.1:p.Thr1427Ser
ENST00000689233.1:n.9459A>T
ENST00000690340.1:n.2924A>T
ENST00000692286.1:c.5119A>T ENSP00000509490.1:p.Thr1707Ser
ENST00000692396.1:c.5203A>T ENSP00000508605.1:p.Thr1735Ser
ENST00000371380.8:c.5251A>T MANE Select ENSP00000360431.2:p.Thr1751Ser
ENST00000371385.8:c.4225A>T ENSP00000360438.4:p.Thr1409Ser
ENST00000674738.1:c.3806A>T
ENST00000674827.1:c.3367A>T ENSP00000502523.1:p.Thr1123Ser
ENST00000675218.1:c.4327A>T ENSP00000501910.1:p.Thr1443Ser
ENST00000675487.1:c.*1184A>T ENSP00000502340.1:n.*1184A>T
ENST00000675718.1:c.4520A>T
ENST00000676102.1:c.4096A>T ENSP00000502811.1:p.Thr1366Ser
ENST00000260766.7:c.5251A>T ENSP00000260766.3:p.Thr1751Ser
ENST00000371375.1:c.4327A>T ENSP00000360426.1:p.Thr1443Ser
ENST00000371380.7:c.5251A>T ENSP00000360431.2:p.Thr1751Ser
ENST00000371385.7:c.4327A>T ENSP00000360438.3:p.Thr1443Ser
NM_001165979.2:c.4327A>T NP_001159451.1:p.Thr1443Ser
NM_001288989.1:c.5203A>T NP_001275918.1:p.Thr1735Ser
NM_016341.3:c.5251A>T NP_057425.3:p.Thr1751Ser
XM_006717885.2:c.5293A>T XP_006717948.1:p.Thr1765Ser
XM_006717886.2:c.5293A>T XP_006717949.1:p.Thr1765Ser
XM_006717888.2:c.5290A>T XP_006717951.1:p.Thr1764Ser
XM_006717889.2:c.5245A>T XP_006717952.1:p.Thr1749Ser
XM_006717890.1:c.4369A>T XP_006717953.1:p.Thr1457Ser
XM_011539849.1:c.5293A>T XP_011538151.1:p.Thr1765Ser
XM_011539850.1:c.4138A>T XP_011538152.1:p.Thr1380Ser
XM_006717885.4:c.5293A>T XP_006717948.1:p.Thr1765Ser
XM_006717888.4:c.5290A>T XP_006717951.1:p.Thr1764Ser
XM_006717889.4:c.5245A>T XP_006717952.1:p.Thr1749Ser
XM_006717890.3:c.4369A>T XP_006717953.1:p.Thr1457Ser
XM_011539849.3:c.5293A>T XP_011538151.1:p.Thr1765Ser
XM_011539850.3:c.4138A>T XP_011538152.1:p.Thr1380Ser
XM_017016310.2:c.5293A>T XP_016871799.1:p.Thr1765Ser
XM_017016311.2:c.5293A>T XP_016871800.1:p.Thr1765Ser
XM_017016312.2:c.4279A>T XP_016871801.1:p.Thr1427Ser
NM_001288989.2:c.5203A>T NP_001275918.1:p.Thr1735Ser
NM_016341.4:c.5251A>T MANE Select NP_057425.3:p.Thr1751Ser