Canonical Allele Identifier: CA2573145877
Gene: PLCE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1687166
ClinVar RCV Id: RCV002250848

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298574dup , CM000672.2:g.94298574dup GRCh38
NC_000010.10:g.96058331dup , CM000672.1:g.96058331dup GRCh37
NC_000010.9:g.96048321dup NCBI36
NG_015799.1:g.309586dup

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:n.4439dup ENSP00000360426.1:p.Tyr1480Ter
ENST00000685253.1:c.*1906dup ENSP00000509405.1:n.*1906dup
ENST00000685889.1:n.2098dup
ENST00000686807.1:n.782dup
ENST00000686954.1:c.*647dup ENSP00000508416.1:n.*647dup
ENST00000688810.1:n.4391dup ENSP00000509140.1:p.Tyr1464Ter
ENST00000689233.1:n.9571dup
ENST00000690340.1:n.3036dup
ENST00000692286.1:c.5231dup ENSP00000509490.1:p.Tyr1744Ter
ENST00000692396.1:c.5315dup ENSP00000508605.1:p.Tyr1772Ter
ENST00000371380.8:c.5363dup MANE Select ENSP00000360431.2:p.Tyr1788Ter
ENST00000371385.8:c.4337dup ENSP00000360438.4:p.Tyr1446Ter
ENST00000674738.1:n.3918dup
ENST00000674827.1:n.3479dup ENSP00000502523.1:p.Tyr1160Ter
ENST00000675218.1:n.4439dup ENSP00000501910.1:p.Tyr1480Ter
ENST00000675487.1:c.*1296dup ENSP00000502340.1:n.*1296dup
ENST00000675718.1:n.4632dup
ENST00000260766.7:c.5363dup ENSP00000260766.3:p.Tyr1788Ter
ENST00000371375.1:n.4439dup ENSP00000360426.1:p.Tyr1480Ter
ENST00000371380.7:c.5363dup ENSP00000360431.2:p.Tyr1788Ter
ENST00000371385.7:c.4439dup ENSP00000360438.3:p.Tyr1480Ter
NM_001165979.2:c.4439dup NP_001159451.1:p.Tyr1480Ter
NM_001288989.1:c.5315dup NP_001275918.1:p.Tyr1772Ter
NM_016341.3:c.5363dup NP_057425.3:p.Tyr1788Ter
XM_006717885.2:c.5405dup XP_006717948.1:p.Tyr1802Ter
XM_006717886.2:c.5405dup XP_006717949.1:p.Tyr1802Ter
XM_006717888.2:c.5402dup XP_006717951.1:p.Tyr1801Ter
XM_006717889.2:c.5357dup XP_006717952.1:p.Tyr1786Ter
XM_006717890.1:c.4481dup XP_006717953.1:p.Tyr1494Ter
XM_011539849.1:c.5405dup XP_011538151.1:p.Tyr1802Ter
XM_011539850.1:c.4250dup XP_011538152.1:p.Tyr1417Ter
XM_006717885.4:c.5405dup XP_006717948.1:p.Tyr1802Ter
XM_006717888.4:c.5402dup XP_006717951.1:p.Tyr1801Ter
XM_006717889.4:c.5357dup XP_006717952.1:p.Tyr1786Ter
XM_006717890.3:c.4481dup XP_006717953.1:p.Tyr1494Ter
XM_011539849.3:c.5405dup XP_011538151.1:p.Tyr1802Ter
XM_011539850.3:c.4250dup XP_011538152.1:p.Tyr1417Ter
XM_017016310.2:c.5405dup XP_016871799.1:p.Tyr1802Ter
XM_017016311.2:c.5405dup XP_016871800.1:p.Tyr1802Ter
XM_017016312.2:c.4391dup XP_016871801.1:p.Tyr1464Ter
NM_001288989.2:c.5315dup NP_001275918.1:p.Tyr1772Ter
NM_016341.4:c.5363dup MANE Select NP_057425.3:p.Tyr1788Ter