Canonical Allele Identifier: CA5613345
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs368327192

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298569A>G , CM000672.2:g.94298569A>G GRCh38
NC_000010.10:g.96058326A>G , CM000672.1:g.96058326A>G GRCh37
NC_000010.9:g.96048316A>G NCBI36
NG_015799.1:g.309581A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4434A>G ENSP00000360426.1:p.Arg1478=
ENST00000685253.1:c.*1901A>G ENSP00000509405.1:n.*1901A>G
ENST00000685889.1:n.2093A>G
ENST00000686807.1:n.777A>G
ENST00000686954.1:c.*642A>G ENSP00000508416.1:n.*642A>G
ENST00000688810.1:c.4386A>G ENSP00000509140.1:p.Arg1462=
ENST00000689233.1:n.9566A>G
ENST00000690340.1:n.3031A>G
ENST00000692286.1:c.5226A>G ENSP00000509490.1:p.Arg1742=
ENST00000692396.1:c.5310A>G ENSP00000508605.1:p.Arg1770=
ENST00000371380.8:c.5358A>G MANE Select ENSP00000360431.2:p.Arg1786=
ENST00000371385.8:c.4332A>G ENSP00000360438.4:p.Arg1444=
ENST00000674738.1:c.3913A>G
ENST00000674827.1:c.3474A>G ENSP00000502523.1:p.Arg1158=
ENST00000675218.1:c.4434A>G ENSP00000501910.1:p.Arg1478=
ENST00000675487.1:c.*1291A>G ENSP00000502340.1:n.*1291A>G
ENST00000675718.1:c.4627A>G
ENST00000260766.7:c.5358A>G ENSP00000260766.3:p.Arg1786=
ENST00000371375.1:c.4434A>G ENSP00000360426.1:p.Arg1478=
ENST00000371380.7:c.5358A>G ENSP00000360431.2:p.Arg1786=
ENST00000371385.7:c.4434A>G ENSP00000360438.3:p.Arg1478=
NM_001165979.2:c.4434A>G NP_001159451.1:p.Arg1478=
NM_001288989.1:c.5310A>G NP_001275918.1:p.Arg1770=
NM_016341.3:c.5358A>G NP_057425.3:p.Arg1786=
XM_006717885.2:c.5400A>G XP_006717948.1:p.Arg1800=
XM_006717886.2:c.5400A>G XP_006717949.1:p.Arg1800=
XM_006717888.2:c.5397A>G XP_006717951.1:p.Arg1799=
XM_006717889.2:c.5352A>G XP_006717952.1:p.Arg1784=
XM_006717890.1:c.4476A>G XP_006717953.1:p.Arg1492=
XM_011539849.1:c.5400A>G XP_011538151.1:p.Arg1800=
XM_011539850.1:c.4245A>G XP_011538152.1:p.Arg1415=
XM_006717885.4:c.5400A>G XP_006717948.1:p.Arg1800=
XM_006717888.4:c.5397A>G XP_006717951.1:p.Arg1799=
XM_006717889.4:c.5352A>G XP_006717952.1:p.Arg1784=
XM_006717890.3:c.4476A>G XP_006717953.1:p.Arg1492=
XM_011539849.3:c.5400A>G XP_011538151.1:p.Arg1800=
XM_011539850.3:c.4245A>G XP_011538152.1:p.Arg1415=
XM_017016310.2:c.5400A>G XP_016871799.1:p.Arg1800=
XM_017016311.2:c.5400A>G XP_016871800.1:p.Arg1800=
XM_017016312.2:c.4386A>G XP_016871801.1:p.Arg1462=
NM_001288989.2:c.5310A>G NP_001275918.1:p.Arg1770=
NM_016341.4:c.5358A>G MANE Select NP_057425.3:p.Arg1786=