Canonical Allele Identifier: CA377644034
Community Standard Title: NM_016341.4(PLCE1):c.5780A>T (p.His1927Leu)
Gene: PLCE1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_016341.4:c.5780A>T MANE Select NP_057425.3:p.His1927Leu
ENST00000371380.8:c.5780A>T MANE Select ENSP00000360431.2:p.His1927Leu
NM_001165979.2:c.4856A>T NP_001159451.1:p.His1619Leu
NM_001288989.1:c.5732A>T NP_001275918.1:p.His1911Leu
NM_001288989.2:c.5732A>T NP_001275918.1:p.His1911Leu
NM_016341.3:c.5780A>T NP_057425.3:p.His1927Leu
ENST00000260766.7:c.5780A>T ENSP00000260766.3:p.His1927Leu
ENST00000371375.1:c.4856A>T ENSP00000360426.1:p.His1619Leu
ENST00000371375.2:c.4856A>T ENSP00000360426.1:p.His1619Leu
ENST00000371380.7:c.5780A>T ENSP00000360431.2:p.His1927Leu
ENST00000371385.7:c.4856A>T ENSP00000360438.3:p.His1619Leu
ENST00000371385.8:c.4754A>T ENSP00000360438.4:p.His1585Leu
ENST00000674738.1:c.4335A>T
ENST00000674827.1:c.3896A>T ENSP00000502523.1:p.His1299Leu
ENST00000675218.1:c.4856A>T ENSP00000501910.1:p.His1619Leu
ENST00000675487.1:c.*1713A>T ENSP00000502340.1:n.*1713A>T
ENST00000675718.1:c.5049A>T
ENST00000685253.1:c.*2323A>T ENSP00000509405.1:n.*2323A>T
ENST00000685889.1:n.2515A>T
ENST00000686807.1:n.1199A>T
ENST00000686954.1:c.*1064A>T ENSP00000508416.1:n.*1064A>T
ENST00000688810.1:c.4808A>T ENSP00000509140.1:p.His1603Leu
ENST00000689233.1:n.9988A>T
ENST00000690340.1:n.3453A>T
ENST00000692286.1:c.5648A>T ENSP00000509490.1:p.His1883Leu
ENST00000692396.1:c.5732A>T ENSP00000508605.1:p.His1911Leu
XM_006717885.2:c.5822A>T XP_006717948.1:p.His1941Leu
XM_006717885.4:c.5822A>T XP_006717948.1:p.His1941Leu
XM_006717886.2:c.5822A>T XP_006717949.1:p.His1941Leu
XM_006717888.2:c.5819A>T XP_006717951.1:p.His1940Leu
XM_006717888.4:c.5819A>T XP_006717951.1:p.His1940Leu
XM_006717889.2:c.5774A>T XP_006717952.1:p.His1925Leu
XM_006717889.4:c.5774A>T XP_006717952.1:p.His1925Leu
XM_006717890.1:c.4898A>T XP_006717953.1:p.His1633Leu
XM_006717890.3:c.4898A>T XP_006717953.1:p.His1633Leu
XM_011539849.1:c.5822A>T XP_011538151.1:p.His1941Leu
XM_011539849.3:c.5822A>T XP_011538151.1:p.His1941Leu
XM_011539850.1:c.4667A>T XP_011538152.1:p.His1556Leu
XM_011539850.3:c.4667A>T XP_011538152.1:p.His1556Leu
XM_017016310.2:c.5822A>T XP_016871799.1:p.His1941Leu
XM_017016311.2:c.5822A>T XP_016871800.1:p.His1941Leu
XM_017016312.2:c.4808A>T XP_016871801.1:p.His1603Leu