Canonical Allele Identifier: CA377641798
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298450G>C , CM000672.2:g.94298450G>C GRCh38
NC_000010.10:g.96058207G>C , CM000672.1:g.96058207G>C GRCh37
NC_000010.9:g.96048197G>C NCBI36
NG_015799.1:g.309462G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5239G>C MANE Select ENSP00000360431.2:p.Ala1747Pro
ENST00000371385.8:c.4213G>C ENSP00000360438.4:p.Ala1405Pro
ENST00000674738.1:n.3794G>C
ENST00000674827.1:n.3355G>C ENSP00000502523.1:p.Ala1119Pro
ENST00000675218.1:n.4315G>C ENSP00000501910.1:p.Ala1439Pro
ENST00000675487.1:c.*1172G>C ENSP00000502340.1:p.=
ENST00000675718.1:n.4508G>C
ENST00000676102.1:c.4084G>C ENSP00000502811.1:p.Ala1362Pro
ENST00000260766.7:c.5239G>C ENSP00000260766.3:p.Ala1747Pro
ENST00000371375.1:n.4315G>C ENSP00000360426.1:p.Ala1439Pro
ENST00000371380.7:c.5239G>C ENSP00000360431.2:p.Ala1747Pro
ENST00000371385.7:c.4315G>C ENSP00000360438.3:p.Ala1439Pro
NM_001165979.2:c.4315G>C NP_001159451.1:p.Ala1439Pro
NM_001288989.1:c.5191G>C NP_001275918.1:p.Ala1731Pro
NM_016341.3:c.5239G>C NP_057425.3:p.Ala1747Pro
XM_006717885.2:c.5281G>C XP_006717948.1:p.Ala1761Pro
XM_006717886.2:c.5281G>C XP_006717949.1:p.Ala1761Pro
XM_006717888.2:c.5278G>C XP_006717951.1:p.Ala1760Pro
XM_006717889.2:c.5233G>C XP_006717952.1:p.Ala1745Pro
XM_006717890.1:c.4357G>C XP_006717953.1:p.Ala1453Pro
XM_011539849.1:c.5281G>C XP_011538151.1:p.Ala1761Pro
XM_011539850.1:c.4126G>C XP_011538152.1:p.Ala1376Pro
XM_006717885.4:c.5281G>C XP_006717948.1:p.Ala1761Pro
XM_006717888.4:c.5278G>C XP_006717951.1:p.Ala1760Pro
XM_006717889.4:c.5233G>C XP_006717952.1:p.Ala1745Pro
XM_006717890.3:c.4357G>C XP_006717953.1:p.Ala1453Pro
XM_011539849.3:c.5281G>C XP_011538151.1:p.Ala1761Pro
XM_011539850.3:c.4126G>C XP_011538152.1:p.Ala1376Pro
XM_017016310.2:c.5281G>C XP_016871799.1:p.Ala1761Pro
XM_017016311.2:c.5281G>C XP_016871800.1:p.Ala1761Pro
XM_017016312.2:c.4267G>C XP_016871801.1:p.Ala1423Pro
NM_001288989.2:c.5191G>C NP_001275918.1:p.Ala1731Pro
NM_016341.4:c.5239G>C MANE Select NP_057425.3:p.Ala1747Pro