Canonical Allele Identifier: CA377641748
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298426C>G , CM000672.2:g.94298426C>G GRCh38
NC_000010.10:g.96058183C>G , CM000672.1:g.96058183C>G GRCh37
NC_000010.9:g.96048173C>G NCBI36
NG_015799.1:g.309438C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4291C>G ENSP00000360426.1:p.Leu1431Val
ENST00000685253.1:c.*1758C>G ENSP00000509405.1:n.*1758C>G
ENST00000685889.1:n.1950C>G
ENST00000686807.1:n.634C>G
ENST00000686954.1:c.*499C>G ENSP00000508416.1:n.*499C>G
ENST00000688810.1:c.4243C>G ENSP00000509140.1:p.Leu1415Val
ENST00000689233.1:n.9423C>G
ENST00000690340.1:n.2888C>G
ENST00000692286.1:c.5083C>G ENSP00000509490.1:p.Leu1695Val
ENST00000692396.1:c.5167C>G ENSP00000508605.1:p.Leu1723Val
ENST00000371380.8:c.5215C>G MANE Select ENSP00000360431.2:p.Leu1739Val
ENST00000371385.8:c.4189C>G ENSP00000360438.4:p.Leu1397Val
ENST00000674738.1:c.3770C>G
ENST00000674827.1:c.3331C>G ENSP00000502523.1:p.Leu1111Val
ENST00000675218.1:c.4291C>G ENSP00000501910.1:p.Leu1431Val
ENST00000675487.1:c.*1148C>G ENSP00000502340.1:n.*1148C>G
ENST00000675718.1:c.4484C>G
ENST00000676102.1:c.4060C>G ENSP00000502811.1:p.Leu1354Val
ENST00000260766.7:c.5215C>G ENSP00000260766.3:p.Leu1739Val
ENST00000371375.1:c.4291C>G ENSP00000360426.1:p.Leu1431Val
ENST00000371380.7:c.5215C>G ENSP00000360431.2:p.Leu1739Val
ENST00000371385.7:c.4291C>G ENSP00000360438.3:p.Leu1431Val
NM_001165979.2:c.4291C>G NP_001159451.1:p.Leu1431Val
NM_001288989.1:c.5167C>G NP_001275918.1:p.Leu1723Val
NM_016341.3:c.5215C>G NP_057425.3:p.Leu1739Val
XM_006717885.2:c.5257C>G XP_006717948.1:p.Leu1753Val
XM_006717886.2:c.5257C>G XP_006717949.1:p.Leu1753Val
XM_006717888.2:c.5254C>G XP_006717951.1:p.Leu1752Val
XM_006717889.2:c.5209C>G XP_006717952.1:p.Leu1737Val
XM_006717890.1:c.4333C>G XP_006717953.1:p.Leu1445Val
XM_011539849.1:c.5257C>G XP_011538151.1:p.Leu1753Val
XM_011539850.1:c.4102C>G XP_011538152.1:p.Leu1368Val
XM_006717885.4:c.5257C>G XP_006717948.1:p.Leu1753Val
XM_006717888.4:c.5254C>G XP_006717951.1:p.Leu1752Val
XM_006717889.4:c.5209C>G XP_006717952.1:p.Leu1737Val
XM_006717890.3:c.4333C>G XP_006717953.1:p.Leu1445Val
XM_011539849.3:c.5257C>G XP_011538151.1:p.Leu1753Val
XM_011539850.3:c.4102C>G XP_011538152.1:p.Leu1368Val
XM_017016310.2:c.5257C>G XP_016871799.1:p.Leu1753Val
XM_017016311.2:c.5257C>G XP_016871800.1:p.Leu1753Val
XM_017016312.2:c.4243C>G XP_016871801.1:p.Leu1415Val
NM_001288989.2:c.5167C>G NP_001275918.1:p.Leu1723Val
NM_016341.4:c.5215C>G MANE Select NP_057425.3:p.Leu1739Val