Canonical Allele Identifier: CA377641786
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298445T>A , CM000672.2:g.94298445T>A GRCh38
NC_000010.10:g.96058202T>A , CM000672.1:g.96058202T>A GRCh37
NC_000010.9:g.96048192T>A NCBI36
NG_015799.1:g.309457T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4310T>A ENSP00000360426.1:p.Leu1437His
ENST00000685253.1:c.*1777T>A ENSP00000509405.1:n.*1777T>A
ENST00000685889.1:n.1969T>A
ENST00000686807.1:n.653T>A
ENST00000686954.1:c.*518T>A ENSP00000508416.1:n.*518T>A
ENST00000688810.1:c.4262T>A ENSP00000509140.1:p.Leu1421His
ENST00000689233.1:n.9442T>A
ENST00000690340.1:n.2907T>A
ENST00000692286.1:c.5102T>A ENSP00000509490.1:p.Leu1701His
ENST00000692396.1:c.5186T>A ENSP00000508605.1:p.Leu1729His
ENST00000371380.8:c.5234T>A MANE Select ENSP00000360431.2:p.Leu1745His
ENST00000371385.8:c.4208T>A ENSP00000360438.4:p.Leu1403His
ENST00000674738.1:c.3789T>A
ENST00000674827.1:c.3350T>A ENSP00000502523.1:p.Leu1117His
ENST00000675218.1:c.4310T>A ENSP00000501910.1:p.Leu1437His
ENST00000675487.1:c.*1167T>A ENSP00000502340.1:n.*1167T>A
ENST00000675718.1:c.4503T>A
ENST00000676102.1:c.4079T>A ENSP00000502811.1:p.Leu1360His
ENST00000260766.7:c.5234T>A ENSP00000260766.3:p.Leu1745His
ENST00000371375.1:c.4310T>A ENSP00000360426.1:p.Leu1437His
ENST00000371380.7:c.5234T>A ENSP00000360431.2:p.Leu1745His
ENST00000371385.7:c.4310T>A ENSP00000360438.3:p.Leu1437His
NM_001165979.2:c.4310T>A NP_001159451.1:p.Leu1437His
NM_001288989.1:c.5186T>A NP_001275918.1:p.Leu1729His
NM_016341.3:c.5234T>A NP_057425.3:p.Leu1745His
XM_006717885.2:c.5276T>A XP_006717948.1:p.Leu1759His
XM_006717886.2:c.5276T>A XP_006717949.1:p.Leu1759His
XM_006717888.2:c.5273T>A XP_006717951.1:p.Leu1758His
XM_006717889.2:c.5228T>A XP_006717952.1:p.Leu1743His
XM_006717890.1:c.4352T>A XP_006717953.1:p.Leu1451His
XM_011539849.1:c.5276T>A XP_011538151.1:p.Leu1759His
XM_011539850.1:c.4121T>A XP_011538152.1:p.Leu1374His
XM_006717885.4:c.5276T>A XP_006717948.1:p.Leu1759His
XM_006717888.4:c.5273T>A XP_006717951.1:p.Leu1758His
XM_006717889.4:c.5228T>A XP_006717952.1:p.Leu1743His
XM_006717890.3:c.4352T>A XP_006717953.1:p.Leu1451His
XM_011539849.3:c.5276T>A XP_011538151.1:p.Leu1759His
XM_011539850.3:c.4121T>A XP_011538152.1:p.Leu1374His
XM_017016310.2:c.5276T>A XP_016871799.1:p.Leu1759His
XM_017016311.2:c.5276T>A XP_016871800.1:p.Leu1759His
XM_017016312.2:c.4262T>A XP_016871801.1:p.Leu1421His
NM_001288989.2:c.5186T>A NP_001275918.1:p.Leu1729His
NM_016341.4:c.5234T>A MANE Select NP_057425.3:p.Leu1745His