Canonical Allele Identifier: CA377643096
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94304585G>T , CM000672.2:g.94304585G>T GRCh38
NC_000010.10:g.96064342G>T , CM000672.1:g.96064342G>T GRCh37
NC_000010.9:g.96054332G>T NCBI36
NG_015799.1:g.315597G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4638G>T ENSP00000360426.1:p.Gln1546His
ENST00000685253.1:c.*2105G>T ENSP00000509405.1:n.*2105G>T
ENST00000685889.1:n.2297G>T
ENST00000686807.1:n.981G>T
ENST00000686954.1:c.*846G>T ENSP00000508416.1:n.*846G>T
ENST00000688810.1:c.4590G>T ENSP00000509140.1:p.Gln1530His
ENST00000689233.1:n.9770G>T
ENST00000690340.1:n.3235G>T
ENST00000692286.1:c.5430G>T ENSP00000509490.1:p.Gln1810His
ENST00000692396.1:c.5514G>T ENSP00000508605.1:p.Gln1838His
ENST00000371380.8:c.5562G>T MANE Select ENSP00000360431.2:p.Gln1854His
ENST00000371385.8:c.4536G>T ENSP00000360438.4:p.Gln1512His
ENST00000674738.1:c.4117G>T
ENST00000674827.1:c.3678G>T ENSP00000502523.1:p.Gln1226His
ENST00000675218.1:c.4638G>T ENSP00000501910.1:p.Gln1546His
ENST00000675487.1:c.*1495G>T ENSP00000502340.1:n.*1495G>T
ENST00000675718.1:c.4831G>T
ENST00000260766.7:c.5562G>T ENSP00000260766.3:p.Gln1854His
ENST00000371375.1:c.4638G>T ENSP00000360426.1:p.Gln1546His
ENST00000371380.7:c.5562G>T ENSP00000360431.2:p.Gln1854His
ENST00000371385.7:c.4638G>T ENSP00000360438.3:p.Gln1546His
NM_001165979.2:c.4638G>T NP_001159451.1:p.Gln1546His
NM_001288989.1:c.5514G>T NP_001275918.1:p.Gln1838His
NM_016341.3:c.5562G>T NP_057425.3:p.Gln1854His
XM_006717885.2:c.5604G>T XP_006717948.1:p.Gln1868His
XM_006717886.2:c.5604G>T XP_006717949.1:p.Gln1868His
XM_006717888.2:c.5601G>T XP_006717951.1:p.Gln1867His
XM_006717889.2:c.5556G>T XP_006717952.1:p.Gln1852His
XM_006717890.1:c.4680G>T XP_006717953.1:p.Gln1560His
XM_011539849.1:c.5604G>T XP_011538151.1:p.Gln1868His
XM_011539850.1:c.4449G>T XP_011538152.1:p.Gln1483His
XM_006717885.4:c.5604G>T XP_006717948.1:p.Gln1868His
XM_006717888.4:c.5601G>T XP_006717951.1:p.Gln1867His
XM_006717889.4:c.5556G>T XP_006717952.1:p.Gln1852His
XM_006717890.3:c.4680G>T XP_006717953.1:p.Gln1560His
XM_011539849.3:c.5604G>T XP_011538151.1:p.Gln1868His
XM_011539850.3:c.4449G>T XP_011538152.1:p.Gln1483His
XM_017016310.2:c.5604G>T XP_016871799.1:p.Gln1868His
XM_017016311.2:c.5604G>T XP_016871800.1:p.Gln1868His
XM_017016312.2:c.4590G>T XP_016871801.1:p.Gln1530His
NM_001288989.2:c.5514G>T NP_001275918.1:p.Gln1838His
NM_016341.4:c.5562G>T MANE Select NP_057425.3:p.Gln1854His