Canonical Allele Identifier: CA377641918
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298502C>T , CM000672.2:g.94298502C>T GRCh38
NC_000010.10:g.96058259C>T , CM000672.1:g.96058259C>T GRCh37
NC_000010.9:g.96048249C>T NCBI36
NG_015799.1:g.309514C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4367C>T ENSP00000360426.1:p.Ala1456Val
ENST00000685253.1:c.*1834C>T ENSP00000509405.1:n.*1834C>T
ENST00000685889.1:n.2026C>T
ENST00000686807.1:n.710C>T
ENST00000686954.1:c.*575C>T ENSP00000508416.1:n.*575C>T
ENST00000688810.1:c.4319C>T ENSP00000509140.1:p.Ala1440Val
ENST00000689233.1:n.9499C>T
ENST00000690340.1:n.2964C>T
ENST00000692286.1:c.5159C>T ENSP00000509490.1:p.Ala1720Val
ENST00000692396.1:c.5243C>T ENSP00000508605.1:p.Ala1748Val
ENST00000371380.8:c.5291C>T MANE Select ENSP00000360431.2:p.Ala1764Val
ENST00000371385.8:c.4265C>T ENSP00000360438.4:p.Ala1422Val
ENST00000674738.1:c.3846C>T
ENST00000674827.1:c.3407C>T ENSP00000502523.1:p.Ala1136Val
ENST00000675218.1:c.4367C>T ENSP00000501910.1:p.Ala1456Val
ENST00000675487.1:c.*1224C>T ENSP00000502340.1:n.*1224C>T
ENST00000675718.1:c.4560C>T
ENST00000260766.7:c.5291C>T ENSP00000260766.3:p.Ala1764Val
ENST00000371375.1:c.4367C>T ENSP00000360426.1:p.Ala1456Val
ENST00000371380.7:c.5291C>T ENSP00000360431.2:p.Ala1764Val
ENST00000371385.7:c.4367C>T ENSP00000360438.3:p.Ala1456Val
NM_001165979.2:c.4367C>T NP_001159451.1:p.Ala1456Val
NM_001288989.1:c.5243C>T NP_001275918.1:p.Ala1748Val
NM_016341.3:c.5291C>T NP_057425.3:p.Ala1764Val
XM_006717885.2:c.5333C>T XP_006717948.1:p.Ala1778Val
XM_006717886.2:c.5333C>T XP_006717949.1:p.Ala1778Val
XM_006717888.2:c.5330C>T XP_006717951.1:p.Ala1777Val
XM_006717889.2:c.5285C>T XP_006717952.1:p.Ala1762Val
XM_006717890.1:c.4409C>T XP_006717953.1:p.Ala1470Val
XM_011539849.1:c.5333C>T XP_011538151.1:p.Ala1778Val
XM_011539850.1:c.4178C>T XP_011538152.1:p.Ala1393Val
XM_006717885.4:c.5333C>T XP_006717948.1:p.Ala1778Val
XM_006717888.4:c.5330C>T XP_006717951.1:p.Ala1777Val
XM_006717889.4:c.5285C>T XP_006717952.1:p.Ala1762Val
XM_006717890.3:c.4409C>T XP_006717953.1:p.Ala1470Val
XM_011539849.3:c.5333C>T XP_011538151.1:p.Ala1778Val
XM_011539850.3:c.4178C>T XP_011538152.1:p.Ala1393Val
XM_017016310.2:c.5333C>T XP_016871799.1:p.Ala1778Val
XM_017016311.2:c.5333C>T XP_016871800.1:p.Ala1778Val
XM_017016312.2:c.4319C>T XP_016871801.1:p.Ala1440Val
NM_001288989.2:c.5243C>T NP_001275918.1:p.Ala1748Val
NM_016341.4:c.5291C>T MANE Select NP_057425.3:p.Ala1764Val