Canonical Allele Identifier: CA5613308
Gene: PLCE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 301728
dbSNP Id: rs148239915

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298373G>T , CM000672.2:g.94298373G>T GRCh38
NC_000010.10:g.96058130G>T , CM000672.1:g.96058130G>T GRCh37
NC_000010.9:g.96048120G>T NCBI36
NG_015799.1:g.309385G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4244-6G>T ENSP00000360426.1:n.4244-6G>T
ENST00000685253.1:c.*1711-6G>T ENSP00000509405.1:n.*1711-6G>T
ENST00000685889.1:n.1903-6G>T
ENST00000686807.1:n.587-6G>T
ENST00000686954.1:c.*452-6G>T ENSP00000508416.1:n.*452-6G>T
ENST00000688810.1:c.4196-6G>T ENSP00000509140.1:n.4196-6G>T
ENST00000689233.1:n.9376-6G>T
ENST00000690340.1:n.2841-6G>T
ENST00000692286.1:c.5036-6G>T ENSP00000509490.1:n.5036-6G>T
ENST00000692396.1:c.5120-6G>T ENSP00000508605.1:n.5120-6G>T
ENST00000371380.8:c.5168-6G>T MANE Select ENSP00000360431.2:n.5168-6G>T
ENST00000371385.8:c.4142-6G>T ENSP00000360438.4:n.4142-6G>T
ENST00000674738.1:c.3723-6G>T
ENST00000674827.1:c.3284-6G>T ENSP00000502523.1:n.3284-6G>T
ENST00000675218.1:c.4244-6G>T ENSP00000501910.1:n.4244-6G>T
ENST00000675487.1:c.*1101-6G>T ENSP00000502340.1:n.*1101-6G>T
ENST00000675718.1:c.4437-6G>T
ENST00000676102.1:c.4013-6G>T ENSP00000502811.1:n.4013-6G>T
ENST00000260766.7:c.5168-6G>T ENSP00000260766.3:n.5168-6G>T
ENST00000371375.1:c.4244-6G>T ENSP00000360426.1:n.4244-6G>T
ENST00000371380.7:c.5168-6G>T ENSP00000360431.2:n.5168-6G>T
ENST00000371385.7:c.4244-6G>T ENSP00000360438.3:n.4244-6G>T
NM_001165979.2:c.4244-6G>T NP_001159451.1:n.4244-6G>T
NM_001288989.1:c.5120-6G>T NP_001275918.1:n.5120-6G>T
NM_016341.3:c.5168-6G>T NP_057425.3:n.5168-6G>T
XM_006717885.2:c.5210-6G>T XP_006717948.1:n.5210-6G>T
XM_006717886.2:c.5210-6G>T XP_006717949.1:n.5210-6G>T
XM_006717888.2:c.5207-6G>T XP_006717951.1:n.5207-6G>T
XM_006717889.2:c.5162-6G>T XP_006717952.1:n.5162-6G>T
XM_006717890.1:c.4286-6G>T XP_006717953.1:n.4286-6G>T
XM_011539849.1:c.5210-6G>T XP_011538151.1:n.5210-6G>T
XM_011539850.1:c.4055-6G>T XP_011538152.1:n.4055-6G>T
XM_006717885.4:c.5210-6G>T XP_006717948.1:n.5210-6G>T
XM_006717888.4:c.5207-6G>T XP_006717951.1:n.5207-6G>T
XM_006717889.4:c.5162-6G>T XP_006717952.1:n.5162-6G>T
XM_006717890.3:c.4286-6G>T XP_006717953.1:n.4286-6G>T
XM_011539849.3:c.5210-6G>T XP_011538151.1:n.5210-6G>T
XM_011539850.3:c.4055-6G>T XP_011538152.1:n.4055-6G>T
XM_017016310.2:c.5210-6G>T XP_016871799.1:n.5210-6G>T
XM_017016311.2:c.5210-6G>T XP_016871800.1:n.5210-6G>T
XM_017016312.2:c.4196-6G>T XP_016871801.1:n.4196-6G>T
NM_001288989.2:c.5120-6G>T NP_001275918.1:n.5120-6G>T
NM_016341.4:c.5168-6G>T MANE Select NP_057425.3:n.5168-6G>T