Canonical Allele Identifier: CA377642309
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298651C>A , CM000672.2:g.94298651C>A GRCh38
NC_000010.10:g.96058408C>A , CM000672.1:g.96058408C>A GRCh37
NC_000010.9:g.96048398C>A NCBI36
NG_015799.1:g.309663C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4516C>A ENSP00000360426.1:p.Leu1506Ile
ENST00000685253.1:c.*1983C>A ENSP00000509405.1:n.*1983C>A
ENST00000685889.1:n.2175C>A
ENST00000686807.1:n.859C>A
ENST00000686954.1:c.*724C>A ENSP00000508416.1:n.*724C>A
ENST00000688810.1:c.4468C>A ENSP00000509140.1:p.Leu1490Ile
ENST00000689233.1:n.9648C>A
ENST00000690340.1:n.3113C>A
ENST00000692286.1:c.5308C>A ENSP00000509490.1:p.Leu1770Ile
ENST00000692396.1:c.5392C>A ENSP00000508605.1:p.Leu1798Ile
ENST00000371380.8:c.5440C>A MANE Select ENSP00000360431.2:p.Leu1814Ile
ENST00000371385.8:c.4414C>A ENSP00000360438.4:p.Leu1472Ile
ENST00000674738.1:c.3995C>A
ENST00000674827.1:c.3556C>A ENSP00000502523.1:p.Leu1186Ile
ENST00000675218.1:c.4516C>A ENSP00000501910.1:p.Leu1506Ile
ENST00000675487.1:c.*1373C>A ENSP00000502340.1:n.*1373C>A
ENST00000675718.1:c.4709C>A
ENST00000260766.7:c.5440C>A ENSP00000260766.3:p.Leu1814Ile
ENST00000371375.1:c.4516C>A ENSP00000360426.1:p.Leu1506Ile
ENST00000371380.7:c.5440C>A ENSP00000360431.2:p.Leu1814Ile
ENST00000371385.7:c.4516C>A ENSP00000360438.3:p.Leu1506Ile
NM_001165979.2:c.4516C>A NP_001159451.1:p.Leu1506Ile
NM_001288989.1:c.5392C>A NP_001275918.1:p.Leu1798Ile
NM_016341.3:c.5440C>A NP_057425.3:p.Leu1814Ile
XM_006717885.2:c.5482C>A XP_006717948.1:p.Leu1828Ile
XM_006717886.2:c.5482C>A XP_006717949.1:p.Leu1828Ile
XM_006717888.2:c.5479C>A XP_006717951.1:p.Leu1827Ile
XM_006717889.2:c.5434C>A XP_006717952.1:p.Leu1812Ile
XM_006717890.1:c.4558C>A XP_006717953.1:p.Leu1520Ile
XM_011539849.1:c.5482C>A XP_011538151.1:p.Leu1828Ile
XM_011539850.1:c.4327C>A XP_011538152.1:p.Leu1443Ile
XM_006717885.4:c.5482C>A XP_006717948.1:p.Leu1828Ile
XM_006717888.4:c.5479C>A XP_006717951.1:p.Leu1827Ile
XM_006717889.4:c.5434C>A XP_006717952.1:p.Leu1812Ile
XM_006717890.3:c.4558C>A XP_006717953.1:p.Leu1520Ile
XM_011539849.3:c.5482C>A XP_011538151.1:p.Leu1828Ile
XM_011539850.3:c.4327C>A XP_011538152.1:p.Leu1443Ile
XM_017016310.2:c.5482C>A XP_016871799.1:p.Leu1828Ile
XM_017016311.2:c.5482C>A XP_016871800.1:p.Leu1828Ile
XM_017016312.2:c.4468C>A XP_016871801.1:p.Leu1490Ile
NM_001288989.2:c.5392C>A NP_001275918.1:p.Leu1798Ile
NM_016341.4:c.5440C>A MANE Select NP_057425.3:p.Leu1814Ile