Canonical Allele Identifier: CA377642154
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298615C>G , CM000672.2:g.94298615C>G GRCh38
NC_000010.10:g.96058372C>G , CM000672.1:g.96058372C>G GRCh37
NC_000010.9:g.96048362C>G NCBI36
NG_015799.1:g.309627C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4480C>G ENSP00000360426.1:p.Leu1494Val
ENST00000685253.1:c.*1947C>G ENSP00000509405.1:n.*1947C>G
ENST00000685889.1:n.2139C>G
ENST00000686807.1:n.823C>G
ENST00000686954.1:c.*688C>G ENSP00000508416.1:n.*688C>G
ENST00000688810.1:c.4432C>G ENSP00000509140.1:p.Leu1478Val
ENST00000689233.1:n.9612C>G
ENST00000690340.1:n.3077C>G
ENST00000692286.1:c.5272C>G ENSP00000509490.1:p.Leu1758Val
ENST00000692396.1:c.5356C>G ENSP00000508605.1:p.Leu1786Val
ENST00000371380.8:c.5404C>G MANE Select ENSP00000360431.2:p.Leu1802Val
ENST00000371385.8:c.4378C>G ENSP00000360438.4:p.Leu1460Val
ENST00000674738.1:c.3959C>G
ENST00000674827.1:c.3520C>G ENSP00000502523.1:p.Leu1174Val
ENST00000675218.1:c.4480C>G ENSP00000501910.1:p.Leu1494Val
ENST00000675487.1:c.*1337C>G ENSP00000502340.1:n.*1337C>G
ENST00000675718.1:c.4673C>G
ENST00000260766.7:c.5404C>G ENSP00000260766.3:p.Leu1802Val
ENST00000371375.1:c.4480C>G ENSP00000360426.1:p.Leu1494Val
ENST00000371380.7:c.5404C>G ENSP00000360431.2:p.Leu1802Val
ENST00000371385.7:c.4480C>G ENSP00000360438.3:p.Leu1494Val
NM_001165979.2:c.4480C>G NP_001159451.1:p.Leu1494Val
NM_001288989.1:c.5356C>G NP_001275918.1:p.Leu1786Val
NM_016341.3:c.5404C>G NP_057425.3:p.Leu1802Val
XM_006717885.2:c.5446C>G XP_006717948.1:p.Leu1816Val
XM_006717886.2:c.5446C>G XP_006717949.1:p.Leu1816Val
XM_006717888.2:c.5443C>G XP_006717951.1:p.Leu1815Val
XM_006717889.2:c.5398C>G XP_006717952.1:p.Leu1800Val
XM_006717890.1:c.4522C>G XP_006717953.1:p.Leu1508Val
XM_011539849.1:c.5446C>G XP_011538151.1:p.Leu1816Val
XM_011539850.1:c.4291C>G XP_011538152.1:p.Leu1431Val
XM_006717885.4:c.5446C>G XP_006717948.1:p.Leu1816Val
XM_006717888.4:c.5443C>G XP_006717951.1:p.Leu1815Val
XM_006717889.4:c.5398C>G XP_006717952.1:p.Leu1800Val
XM_006717890.3:c.4522C>G XP_006717953.1:p.Leu1508Val
XM_011539849.3:c.5446C>G XP_011538151.1:p.Leu1816Val
XM_011539850.3:c.4291C>G XP_011538152.1:p.Leu1431Val
XM_017016310.2:c.5446C>G XP_016871799.1:p.Leu1816Val
XM_017016311.2:c.5446C>G XP_016871800.1:p.Leu1816Val
XM_017016312.2:c.4432C>G XP_016871801.1:p.Leu1478Val
NM_001288989.2:c.5356C>G NP_001275918.1:p.Leu1786Val
NM_016341.4:c.5404C>G MANE Select NP_057425.3:p.Leu1802Val