Canonical Allele Identifier: CA377641797
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5239G>A MANE Select ENSP00000360431.2:p.Ala1747Thr
ENST00000371385.8:c.4213G>A ENSP00000360438.4:p.Ala1405Thr
ENST00000674827.1:n.3355G>A ENSP00000502523.1:p.Ala1119Thr
ENST00000675218.1:n.4315G>A ENSP00000501910.1:p.Ala1439Thr
ENST00000675487.1:c.*1172G>A ENSP00000502340.1:p.=
ENST00000676102.1:c.4084G>A ENSP00000502811.1:p.Ala1362Thr
ENST00000260766.7:c.5239G>A ENSP00000260766.3:p.Ala1747Thr
ENST00000371375.1:n.4315G>A ENSP00000360426.1:p.Ala1439Thr
ENST00000371380.7:c.5239G>A ENSP00000360431.2:p.Ala1747Thr
ENST00000371385.7:c.4315G>A ENSP00000360438.3:p.Ala1439Thr
NM_001165979.2:c.4315G>A NP_001159451.1:p.Ala1439Thr
NM_001288989.1:c.5191G>A NP_001275918.1:p.Ala1731Thr
NM_016341.3:c.5239G>A NP_057425.3:p.Ala1747Thr
XM_006717885.2:c.5281G>A XP_006717948.1:p.Ala1761Thr
XM_006717886.2:c.5281G>A XP_006717949.1:p.Ala1761Thr
XM_006717888.2:c.5278G>A XP_006717951.1:p.Ala1760Thr
XM_006717889.2:c.5233G>A XP_006717952.1:p.Ala1745Thr
XM_006717890.1:c.4357G>A XP_006717953.1:p.Ala1453Thr
XM_011539849.1:c.5281G>A XP_011538151.1:p.Ala1761Thr
XM_011539850.1:c.4126G>A XP_011538152.1:p.Ala1376Thr
XM_006717885.4:c.5281G>A XP_006717948.1:p.Ala1761Thr
XM_006717888.4:c.5278G>A XP_006717951.1:p.Ala1760Thr
XM_006717889.4:c.5233G>A XP_006717952.1:p.Ala1745Thr
XM_006717890.3:c.4357G>A XP_006717953.1:p.Ala1453Thr
XM_011539849.3:c.5281G>A XP_011538151.1:p.Ala1761Thr
XM_011539850.3:c.4126G>A XP_011538152.1:p.Ala1376Thr
XM_017016310.2:c.5281G>A XP_016871799.1:p.Ala1761Thr
XM_017016311.2:c.5281G>A XP_016871800.1:p.Ala1761Thr
XM_017016312.2:c.4267G>A XP_016871801.1:p.Ala1423Thr
NM_001288989.2:c.5191G>A NP_001275918.1:p.Ala1731Thr
NM_016341.4:c.5239G>A MANE Select NP_057425.3:p.Ala1747Thr