Canonical Allele Identifier: CA377642030
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298556G>T , CM000672.2:g.94298556G>T GRCh38
NC_000010.10:g.96058313G>T , CM000672.1:g.96058313G>T GRCh37
NC_000010.9:g.96048303G>T NCBI36
NG_015799.1:g.309568G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4421G>T ENSP00000360426.1:p.Cys1474Phe
ENST00000685253.1:c.*1888G>T ENSP00000509405.1:n.*1888G>T
ENST00000685889.1:n.2080G>T
ENST00000686807.1:n.764G>T
ENST00000686954.1:c.*629G>T ENSP00000508416.1:n.*629G>T
ENST00000688810.1:c.4373G>T ENSP00000509140.1:p.Cys1458Phe
ENST00000689233.1:n.9553G>T
ENST00000690340.1:n.3018G>T
ENST00000692286.1:c.5213G>T ENSP00000509490.1:p.Cys1738Phe
ENST00000692396.1:c.5297G>T ENSP00000508605.1:p.Cys1766Phe
ENST00000371380.8:c.5345G>T MANE Select ENSP00000360431.2:p.Cys1782Phe
ENST00000371385.8:c.4319G>T ENSP00000360438.4:p.Cys1440Phe
ENST00000674738.1:c.3900G>T
ENST00000674827.1:c.3461G>T ENSP00000502523.1:p.Cys1154Phe
ENST00000675218.1:c.4421G>T ENSP00000501910.1:p.Cys1474Phe
ENST00000675487.1:c.*1278G>T ENSP00000502340.1:n.*1278G>T
ENST00000675718.1:c.4614G>T
ENST00000260766.7:c.5345G>T ENSP00000260766.3:p.Cys1782Phe
ENST00000371375.1:c.4421G>T ENSP00000360426.1:p.Cys1474Phe
ENST00000371380.7:c.5345G>T ENSP00000360431.2:p.Cys1782Phe
ENST00000371385.7:c.4421G>T ENSP00000360438.3:p.Cys1474Phe
NM_001165979.2:c.4421G>T NP_001159451.1:p.Cys1474Phe
NM_001288989.1:c.5297G>T NP_001275918.1:p.Cys1766Phe
NM_016341.3:c.5345G>T NP_057425.3:p.Cys1782Phe
XM_006717885.2:c.5387G>T XP_006717948.1:p.Cys1796Phe
XM_006717886.2:c.5387G>T XP_006717949.1:p.Cys1796Phe
XM_006717888.2:c.5384G>T XP_006717951.1:p.Cys1795Phe
XM_006717889.2:c.5339G>T XP_006717952.1:p.Cys1780Phe
XM_006717890.1:c.4463G>T XP_006717953.1:p.Cys1488Phe
XM_011539849.1:c.5387G>T XP_011538151.1:p.Cys1796Phe
XM_011539850.1:c.4232G>T XP_011538152.1:p.Cys1411Phe
XM_006717885.4:c.5387G>T XP_006717948.1:p.Cys1796Phe
XM_006717888.4:c.5384G>T XP_006717951.1:p.Cys1795Phe
XM_006717889.4:c.5339G>T XP_006717952.1:p.Cys1780Phe
XM_006717890.3:c.4463G>T XP_006717953.1:p.Cys1488Phe
XM_011539849.3:c.5387G>T XP_011538151.1:p.Cys1796Phe
XM_011539850.3:c.4232G>T XP_011538152.1:p.Cys1411Phe
XM_017016310.2:c.5387G>T XP_016871799.1:p.Cys1796Phe
XM_017016311.2:c.5387G>T XP_016871800.1:p.Cys1796Phe
XM_017016312.2:c.4373G>T XP_016871801.1:p.Cys1458Phe
NM_001288989.2:c.5297G>T NP_001275918.1:p.Cys1766Phe
NM_016341.4:c.5345G>T MANE Select NP_057425.3:p.Cys1782Phe