Canonical Allele Identifier: CA377642120
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs2052925557

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298600T>G , CM000672.2:g.94298600T>G GRCh38
NC_000010.10:g.96058357T>G , CM000672.1:g.96058357T>G GRCh37
NC_000010.9:g.96048347T>G NCBI36
NG_015799.1:g.309612T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4465T>G ENSP00000360426.1:p.Ser1489Ala
ENST00000685253.1:c.*1932T>G ENSP00000509405.1:n.*1932T>G
ENST00000685889.1:n.2124T>G
ENST00000686807.1:n.808T>G
ENST00000686954.1:c.*673T>G ENSP00000508416.1:n.*673T>G
ENST00000688810.1:c.4417T>G ENSP00000509140.1:p.Ser1473Ala
ENST00000689233.1:n.9597T>G
ENST00000690340.1:n.3062T>G
ENST00000692286.1:c.5257T>G ENSP00000509490.1:p.Ser1753Ala
ENST00000692396.1:c.5341T>G ENSP00000508605.1:p.Ser1781Ala
ENST00000371380.8:c.5389T>G MANE Select ENSP00000360431.2:p.Ser1797Ala
ENST00000371385.8:c.4363T>G ENSP00000360438.4:p.Ser1455Ala
ENST00000674738.1:c.3944T>G
ENST00000674827.1:c.3505T>G ENSP00000502523.1:p.Ser1169Ala
ENST00000675218.1:c.4465T>G ENSP00000501910.1:p.Ser1489Ala
ENST00000675487.1:c.*1322T>G ENSP00000502340.1:n.*1322T>G
ENST00000675718.1:c.4658T>G
ENST00000260766.7:c.5389T>G ENSP00000260766.3:p.Ser1797Ala
ENST00000371375.1:c.4465T>G ENSP00000360426.1:p.Ser1489Ala
ENST00000371380.7:c.5389T>G ENSP00000360431.2:p.Ser1797Ala
ENST00000371385.7:c.4465T>G ENSP00000360438.3:p.Ser1489Ala
NM_001165979.2:c.4465T>G NP_001159451.1:p.Ser1489Ala
NM_001288989.1:c.5341T>G NP_001275918.1:p.Ser1781Ala
NM_016341.3:c.5389T>G NP_057425.3:p.Ser1797Ala
XM_006717885.2:c.5431T>G XP_006717948.1:p.Ser1811Ala
XM_006717886.2:c.5431T>G XP_006717949.1:p.Ser1811Ala
XM_006717888.2:c.5428T>G XP_006717951.1:p.Ser1810Ala
XM_006717889.2:c.5383T>G XP_006717952.1:p.Ser1795Ala
XM_006717890.1:c.4507T>G XP_006717953.1:p.Ser1503Ala
XM_011539849.1:c.5431T>G XP_011538151.1:p.Ser1811Ala
XM_011539850.1:c.4276T>G XP_011538152.1:p.Ser1426Ala
XM_006717885.4:c.5431T>G XP_006717948.1:p.Ser1811Ala
XM_006717888.4:c.5428T>G XP_006717951.1:p.Ser1810Ala
XM_006717889.4:c.5383T>G XP_006717952.1:p.Ser1795Ala
XM_006717890.3:c.4507T>G XP_006717953.1:p.Ser1503Ala
XM_011539849.3:c.5431T>G XP_011538151.1:p.Ser1811Ala
XM_011539850.3:c.4276T>G XP_011538152.1:p.Ser1426Ala
XM_017016310.2:c.5431T>G XP_016871799.1:p.Ser1811Ala
XM_017016311.2:c.5431T>G XP_016871800.1:p.Ser1811Ala
XM_017016312.2:c.4417T>G XP_016871801.1:p.Ser1473Ala
NM_001288989.2:c.5341T>G NP_001275918.1:p.Ser1781Ala
NM_016341.4:c.5389T>G MANE Select NP_057425.3:p.Ser1797Ala