Canonical Allele Identifier: CA377642015
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298549A>C , CM000672.2:g.94298549A>C GRCh38
NC_000010.10:g.96058306A>C , CM000672.1:g.96058306A>C GRCh37
NC_000010.9:g.96048296A>C NCBI36
NG_015799.1:g.309561A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5338A>C MANE Select ENSP00000360431.2:p.Thr1780Pro
ENST00000371385.8:c.4312A>C ENSP00000360438.4:p.Thr1438Pro
ENST00000674738.1:n.3893A>C
ENST00000674827.1:n.3454A>C ENSP00000502523.1:p.Thr1152Pro
ENST00000675218.1:n.4414A>C ENSP00000501910.1:p.Thr1472Pro
ENST00000675487.1:c.*1271A>C ENSP00000502340.1:p.=
ENST00000675718.1:n.4607A>C
ENST00000260766.7:c.5338A>C ENSP00000260766.3:p.Thr1780Pro
ENST00000371375.1:n.4414A>C ENSP00000360426.1:p.Thr1472Pro
ENST00000371380.7:c.5338A>C ENSP00000360431.2:p.Thr1780Pro
ENST00000371385.7:c.4414A>C ENSP00000360438.3:p.Thr1472Pro
NM_001165979.2:c.4414A>C NP_001159451.1:p.Thr1472Pro
NM_001288989.1:c.5290A>C NP_001275918.1:p.Thr1764Pro
NM_016341.3:c.5338A>C NP_057425.3:p.Thr1780Pro
XM_006717885.2:c.5380A>C XP_006717948.1:p.Thr1794Pro
XM_006717886.2:c.5380A>C XP_006717949.1:p.Thr1794Pro
XM_006717888.2:c.5377A>C XP_006717951.1:p.Thr1793Pro
XM_006717889.2:c.5332A>C XP_006717952.1:p.Thr1778Pro
XM_006717890.1:c.4456A>C XP_006717953.1:p.Thr1486Pro
XM_011539849.1:c.5380A>C XP_011538151.1:p.Thr1794Pro
XM_011539850.1:c.4225A>C XP_011538152.1:p.Thr1409Pro
XM_006717885.4:c.5380A>C XP_006717948.1:p.Thr1794Pro
XM_006717888.4:c.5377A>C XP_006717951.1:p.Thr1793Pro
XM_006717889.4:c.5332A>C XP_006717952.1:p.Thr1778Pro
XM_006717890.3:c.4456A>C XP_006717953.1:p.Thr1486Pro
XM_011539849.3:c.5380A>C XP_011538151.1:p.Thr1794Pro
XM_011539850.3:c.4225A>C XP_011538152.1:p.Thr1409Pro
XM_017016310.2:c.5380A>C XP_016871799.1:p.Thr1794Pro
XM_017016311.2:c.5380A>C XP_016871800.1:p.Thr1794Pro
XM_017016312.2:c.4366A>C XP_016871801.1:p.Thr1456Pro
NM_001288989.2:c.5290A>C NP_001275918.1:p.Thr1764Pro
NM_016341.4:c.5338A>C MANE Select NP_057425.3:p.Thr1780Pro