Canonical Allele Identifier: CA1929001572
Community Standard Title: NM_016341.4(PLCE1):c.5780A= (p.His1927=)
Gene: PLCE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94306584A= , CM000672.2:g.94306584A= GRCh38
NC_000010.10:g.96066341A= , CM000672.1:g.96066341A= GRCh37
NC_000010.9:g.96056331A= NCBI36
NG_015799.1:g.317596A=

Transcript Alleles

HGVS Amino-acid Change
NM_016341.4:c.5780A= MANE Select NP_057425.3:p.His1927=
ENST00000371380.8:c.5780A= MANE Select ENSP00000360431.2:p.His1927=
NM_001165979.2:c.4856A= NP_001159451.1:p.His1619=
NM_001288989.1:c.5732A= NP_001275918.1:p.His1911=
NM_001288989.2:c.5732A= NP_001275918.1:p.His1911=
NM_016341.3:c.5780A= NP_057425.3:p.His1927=
ENST00000260766.7:c.5780A= ENSP00000260766.3:p.His1927=
ENST00000371375.1:c.4856A= ENSP00000360426.1:p.His1619=
ENST00000371375.2:c.4856A= ENSP00000360426.1:p.His1619=
ENST00000371380.7:c.5780A= ENSP00000360431.2:p.His1927=
ENST00000371385.7:c.4856A= ENSP00000360438.3:p.His1619=
ENST00000371385.8:c.4754A= ENSP00000360438.4:p.His1585=
ENST00000674738.1:c.4335A=
ENST00000674827.1:c.3896A= ENSP00000502523.1:p.His1299=
ENST00000675218.1:c.4856A= ENSP00000501910.1:p.His1619=
ENST00000675487.1:c.*1713A= ENSP00000502340.1:n.*1713A=
ENST00000675718.1:c.5049A=
ENST00000685253.1:c.*2323A= ENSP00000509405.1:n.*2323A=
ENST00000685889.1:n.2515A=
ENST00000686807.1:n.1199A=
ENST00000686954.1:c.*1064A= ENSP00000508416.1:n.*1064A=
ENST00000688810.1:c.4808A= ENSP00000509140.1:p.His1603=
ENST00000689233.1:n.9988A=
ENST00000690340.1:n.3453A=
ENST00000692286.1:c.5648A= ENSP00000509490.1:p.His1883=
ENST00000692396.1:c.5732A= ENSP00000508605.1:p.His1911=
XM_006717885.2:c.5822A= XP_006717948.1:p.His1941=
XM_006717885.4:c.5822A= XP_006717948.1:p.His1941=
XM_006717886.2:c.5822A= XP_006717949.1:p.His1941=
XM_006717888.2:c.5819A= XP_006717951.1:p.His1940=
XM_006717888.4:c.5819A= XP_006717951.1:p.His1940=
XM_006717889.2:c.5774A= XP_006717952.1:p.His1925=
XM_006717889.4:c.5774A= XP_006717952.1:p.His1925=
XM_006717890.1:c.4898A= XP_006717953.1:p.His1633=
XM_006717890.3:c.4898A= XP_006717953.1:p.His1633=
XM_011539849.1:c.5822A= XP_011538151.1:p.His1941=
XM_011539849.3:c.5822A= XP_011538151.1:p.His1941=
XM_011539850.1:c.4667A= XP_011538152.1:p.His1556=
XM_011539850.3:c.4667A= XP_011538152.1:p.His1556=
XM_017016310.2:c.5822A= XP_016871799.1:p.His1941=
XM_017016311.2:c.5822A= XP_016871800.1:p.His1941=
XM_017016312.2:c.4808A= XP_016871801.1:p.His1603=