Canonical Allele Identifier: CA377642694
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94304483T>A , CM000672.2:g.94304483T>A GRCh38
NC_000010.10:g.96064240T>A , CM000672.1:g.96064240T>A GRCh37
NC_000010.9:g.96054230T>A NCBI36
NG_015799.1:g.315495T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4536T>A ENSP00000360426.1:p.Asp1512Glu
ENST00000685253.1:c.*2003T>A ENSP00000509405.1:n.*2003T>A
ENST00000685889.1:n.2195T>A
ENST00000686807.1:n.879T>A
ENST00000686954.1:c.*744T>A ENSP00000508416.1:n.*744T>A
ENST00000688810.1:c.4488T>A ENSP00000509140.1:p.Asp1496Glu
ENST00000689233.1:n.9668T>A
ENST00000690340.1:n.3133T>A
ENST00000692286.1:c.5328T>A ENSP00000509490.1:p.Asp1776Glu
ENST00000692396.1:c.5412T>A ENSP00000508605.1:p.Asp1804Glu
ENST00000371380.8:c.5460T>A MANE Select ENSP00000360431.2:p.Asp1820Glu
ENST00000371385.8:c.4434T>A ENSP00000360438.4:p.Asp1478Glu
ENST00000674738.1:c.4015T>A
ENST00000674827.1:c.3576T>A ENSP00000502523.1:p.Asp1192Glu
ENST00000675218.1:c.4536T>A ENSP00000501910.1:p.Asp1512Glu
ENST00000675487.1:c.*1393T>A ENSP00000502340.1:n.*1393T>A
ENST00000675718.1:c.4729T>A
ENST00000260766.7:c.5460T>A ENSP00000260766.3:p.Asp1820Glu
ENST00000371375.1:c.4536T>A ENSP00000360426.1:p.Asp1512Glu
ENST00000371380.7:c.5460T>A ENSP00000360431.2:p.Asp1820Glu
ENST00000371385.7:c.4536T>A ENSP00000360438.3:p.Asp1512Glu
NM_001165979.2:c.4536T>A NP_001159451.1:p.Asp1512Glu
NM_001288989.1:c.5412T>A NP_001275918.1:p.Asp1804Glu
NM_016341.3:c.5460T>A NP_057425.3:p.Asp1820Glu
XM_006717885.2:c.5502T>A XP_006717948.1:p.Asp1834Glu
XM_006717886.2:c.5502T>A XP_006717949.1:p.Asp1834Glu
XM_006717888.2:c.5499T>A XP_006717951.1:p.Asp1833Glu
XM_006717889.2:c.5454T>A XP_006717952.1:p.Asp1818Glu
XM_006717890.1:c.4578T>A XP_006717953.1:p.Asp1526Glu
XM_011539849.1:c.5502T>A XP_011538151.1:p.Asp1834Glu
XM_011539850.1:c.4347T>A XP_011538152.1:p.Asp1449Glu
XM_006717885.4:c.5502T>A XP_006717948.1:p.Asp1834Glu
XM_006717888.4:c.5499T>A XP_006717951.1:p.Asp1833Glu
XM_006717889.4:c.5454T>A XP_006717952.1:p.Asp1818Glu
XM_006717890.3:c.4578T>A XP_006717953.1:p.Asp1526Glu
XM_011539849.3:c.5502T>A XP_011538151.1:p.Asp1834Glu
XM_011539850.3:c.4347T>A XP_011538152.1:p.Asp1449Glu
XM_017016310.2:c.5502T>A XP_016871799.1:p.Asp1834Glu
XM_017016311.2:c.5502T>A XP_016871800.1:p.Asp1834Glu
XM_017016312.2:c.4488T>A XP_016871801.1:p.Asp1496Glu
NM_001288989.2:c.5412T>A NP_001275918.1:p.Asp1804Glu
NM_016341.4:c.5460T>A MANE Select NP_057425.3:p.Asp1820Glu