Canonical Allele Identifier: CA377641777
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298441T>C , CM000672.2:g.94298441T>C GRCh38
NC_000010.10:g.96058198T>C , CM000672.1:g.96058198T>C GRCh37
NC_000010.9:g.96048188T>C NCBI36
NG_015799.1:g.309453T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5230T>C MANE Select ENSP00000360431.2:p.Ser1744Pro
ENST00000371385.8:c.4204T>C ENSP00000360438.4:p.Ser1402Pro
ENST00000674738.1:n.3785T>C
ENST00000674827.1:n.3346T>C ENSP00000502523.1:p.Ser1116Pro
ENST00000675218.1:n.4306T>C ENSP00000501910.1:p.Ser1436Pro
ENST00000675487.1:c.*1163T>C ENSP00000502340.1:p.=
ENST00000675718.1:n.4499T>C
ENST00000676102.1:c.4075T>C ENSP00000502811.1:p.Ser1359Pro
ENST00000260766.7:c.5230T>C ENSP00000260766.3:p.Ser1744Pro
ENST00000371375.1:n.4306T>C ENSP00000360426.1:p.Ser1436Pro
ENST00000371380.7:c.5230T>C ENSP00000360431.2:p.Ser1744Pro
ENST00000371385.7:c.4306T>C ENSP00000360438.3:p.Ser1436Pro
NM_001165979.2:c.4306T>C NP_001159451.1:p.Ser1436Pro
NM_001288989.1:c.5182T>C NP_001275918.1:p.Ser1728Pro
NM_016341.3:c.5230T>C NP_057425.3:p.Ser1744Pro
XM_006717885.2:c.5272T>C XP_006717948.1:p.Ser1758Pro
XM_006717886.2:c.5272T>C XP_006717949.1:p.Ser1758Pro
XM_006717888.2:c.5269T>C XP_006717951.1:p.Ser1757Pro
XM_006717889.2:c.5224T>C XP_006717952.1:p.Ser1742Pro
XM_006717890.1:c.4348T>C XP_006717953.1:p.Ser1450Pro
XM_011539849.1:c.5272T>C XP_011538151.1:p.Ser1758Pro
XM_011539850.1:c.4117T>C XP_011538152.1:p.Ser1373Pro
XM_006717885.4:c.5272T>C XP_006717948.1:p.Ser1758Pro
XM_006717888.4:c.5269T>C XP_006717951.1:p.Ser1757Pro
XM_006717889.4:c.5224T>C XP_006717952.1:p.Ser1742Pro
XM_006717890.3:c.4348T>C XP_006717953.1:p.Ser1450Pro
XM_011539849.3:c.5272T>C XP_011538151.1:p.Ser1758Pro
XM_011539850.3:c.4117T>C XP_011538152.1:p.Ser1373Pro
XM_017016310.2:c.5272T>C XP_016871799.1:p.Ser1758Pro
XM_017016311.2:c.5272T>C XP_016871800.1:p.Ser1758Pro
XM_017016312.2:c.4258T>C XP_016871801.1:p.Ser1420Pro
NM_001288989.2:c.5182T>C NP_001275918.1:p.Ser1728Pro
NM_016341.4:c.5230T>C MANE Select NP_057425.3:p.Ser1744Pro