Canonical Allele Identifier: CA377642082
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298582G>T , CM000672.2:g.94298582G>T GRCh38
NC_000010.10:g.96058339G>T , CM000672.1:g.96058339G>T GRCh37
NC_000010.9:g.96048329G>T NCBI36
NG_015799.1:g.309594G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4447G>T ENSP00000360426.1:p.Ala1483Ser
ENST00000685253.1:c.*1914G>T ENSP00000509405.1:n.*1914G>T
ENST00000685889.1:n.2106G>T
ENST00000686807.1:n.790G>T
ENST00000686954.1:c.*655G>T ENSP00000508416.1:n.*655G>T
ENST00000688810.1:c.4399G>T ENSP00000509140.1:p.Ala1467Ser
ENST00000689233.1:n.9579G>T
ENST00000690340.1:n.3044G>T
ENST00000692286.1:c.5239G>T ENSP00000509490.1:p.Ala1747Ser
ENST00000692396.1:c.5323G>T ENSP00000508605.1:p.Ala1775Ser
ENST00000371380.8:c.5371G>T MANE Select ENSP00000360431.2:p.Ala1791Ser
ENST00000371385.8:c.4345G>T ENSP00000360438.4:p.Ala1449Ser
ENST00000674738.1:c.3926G>T
ENST00000674827.1:c.3487G>T ENSP00000502523.1:p.Ala1163Ser
ENST00000675218.1:c.4447G>T ENSP00000501910.1:p.Ala1483Ser
ENST00000675487.1:c.*1304G>T ENSP00000502340.1:n.*1304G>T
ENST00000675718.1:c.4640G>T
ENST00000260766.7:c.5371G>T ENSP00000260766.3:p.Ala1791Ser
ENST00000371375.1:c.4447G>T ENSP00000360426.1:p.Ala1483Ser
ENST00000371380.7:c.5371G>T ENSP00000360431.2:p.Ala1791Ser
ENST00000371385.7:c.4447G>T ENSP00000360438.3:p.Ala1483Ser
NM_001165979.2:c.4447G>T NP_001159451.1:p.Ala1483Ser
NM_001288989.1:c.5323G>T NP_001275918.1:p.Ala1775Ser
NM_016341.3:c.5371G>T NP_057425.3:p.Ala1791Ser
XM_006717885.2:c.5413G>T XP_006717948.1:p.Ala1805Ser
XM_006717886.2:c.5413G>T XP_006717949.1:p.Ala1805Ser
XM_006717888.2:c.5410G>T XP_006717951.1:p.Ala1804Ser
XM_006717889.2:c.5365G>T XP_006717952.1:p.Ala1789Ser
XM_006717890.1:c.4489G>T XP_006717953.1:p.Ala1497Ser
XM_011539849.1:c.5413G>T XP_011538151.1:p.Ala1805Ser
XM_011539850.1:c.4258G>T XP_011538152.1:p.Ala1420Ser
XM_006717885.4:c.5413G>T XP_006717948.1:p.Ala1805Ser
XM_006717888.4:c.5410G>T XP_006717951.1:p.Ala1804Ser
XM_006717889.4:c.5365G>T XP_006717952.1:p.Ala1789Ser
XM_006717890.3:c.4489G>T XP_006717953.1:p.Ala1497Ser
XM_011539849.3:c.5413G>T XP_011538151.1:p.Ala1805Ser
XM_011539850.3:c.4258G>T XP_011538152.1:p.Ala1420Ser
XM_017016310.2:c.5413G>T XP_016871799.1:p.Ala1805Ser
XM_017016311.2:c.5413G>T XP_016871800.1:p.Ala1805Ser
XM_017016312.2:c.4399G>T XP_016871801.1:p.Ala1467Ser
NM_001288989.2:c.5323G>T NP_001275918.1:p.Ala1775Ser
NM_016341.4:c.5371G>T MANE Select NP_057425.3:p.Ala1791Ser