Canonical Allele Identifier: CA5613347
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs763759972

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298576C>T , CM000672.2:g.94298576C>T GRCh38
NC_000010.10:g.96058333C>T , CM000672.1:g.96058333C>T GRCh37
NC_000010.9:g.96048323C>T NCBI36
NG_015799.1:g.309588C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5365C>T MANE Select ENSP00000360431.2:p.Pro1789Ser
ENST00000371385.8:c.4339C>T ENSP00000360438.4:p.Pro1447Ser
ENST00000674738.1:n.3920C>T
ENST00000674827.1:n.3481C>T ENSP00000502523.1:p.Pro1161Ser
ENST00000675218.1:n.4441C>T ENSP00000501910.1:p.Pro1481Ser
ENST00000675487.1:c.*1298C>T ENSP00000502340.1:p.=
ENST00000675718.1:n.4634C>T
ENST00000260766.7:c.5365C>T ENSP00000260766.3:p.Pro1789Ser
ENST00000371375.1:n.4441C>T ENSP00000360426.1:p.Pro1481Ser
ENST00000371380.7:c.5365C>T ENSP00000360431.2:p.Pro1789Ser
ENST00000371385.7:c.4441C>T ENSP00000360438.3:p.Pro1481Ser
NM_001165979.2:c.4441C>T NP_001159451.1:p.Pro1481Ser
NM_001288989.1:c.5317C>T NP_001275918.1:p.Pro1773Ser
NM_016341.3:c.5365C>T NP_057425.3:p.Pro1789Ser
XM_006717885.2:c.5407C>T XP_006717948.1:p.Pro1803Ser
XM_006717886.2:c.5407C>T XP_006717949.1:p.Pro1803Ser
XM_006717888.2:c.5404C>T XP_006717951.1:p.Pro1802Ser
XM_006717889.2:c.5359C>T XP_006717952.1:p.Pro1787Ser
XM_006717890.1:c.4483C>T XP_006717953.1:p.Pro1495Ser
XM_011539849.1:c.5407C>T XP_011538151.1:p.Pro1803Ser
XM_011539850.1:c.4252C>T XP_011538152.1:p.Pro1418Ser
XM_006717885.4:c.5407C>T XP_006717948.1:p.Pro1803Ser
XM_006717888.4:c.5404C>T XP_006717951.1:p.Pro1802Ser
XM_006717889.4:c.5359C>T XP_006717952.1:p.Pro1787Ser
XM_006717890.3:c.4483C>T XP_006717953.1:p.Pro1495Ser
XM_011539849.3:c.5407C>T XP_011538151.1:p.Pro1803Ser
XM_011539850.3:c.4252C>T XP_011538152.1:p.Pro1418Ser
XM_017016310.2:c.5407C>T XP_016871799.1:p.Pro1803Ser
XM_017016311.2:c.5407C>T XP_016871800.1:p.Pro1803Ser
XM_017016312.2:c.4393C>T XP_016871801.1:p.Pro1465Ser
NM_001288989.2:c.5317C>T NP_001275918.1:p.Pro1773Ser
NM_016341.4:c.5365C>T MANE Select NP_057425.3:p.Pro1789Ser