Canonical Allele Identifier: CA2573145877

Gene: PLCE1

Linked Data

• ClinVar Variation Id: 1687166
• ClinVar RCV Id: RCV002250848
• dbSNP Id: rs2133537931

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:c.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:c.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:c.3918dup
ENST00000674827.1:c.3479dup	ENSP00000502523.1:p.Tyr1160Ter
ENST00000675218.1:c.4439dup	ENSP00000501910.1:p.Tyr1480Ter
ENST00000675487.1:c.*1296dup	ENSP00000502340.1:n.*1296dup
ENST00000675718.1:c.4632dup
ENST00000260766.7:c.5363dup	ENSP00000260766.3:p.Tyr1788Ter
ENST00000371375.1:c.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