Canonical Allele Identifier: CA377642093

Gene: PLCE1

Linked Data

• dbSNP Id: rs1245949386
• gnomAD v2: 10-96058345-C-T
• gnomAD v4: 10-94298588-C-T
• MyVariant Identifiers: chr10:g.96058345C>T (hg19) ; chr10:g.94298588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298588C>T , CM000672.2:g.94298588C>T	GRCh38
NC_000010.10:g.96058345C>T , CM000672.1:g.96058345C>T	GRCh37
NC_000010.9:g.96048335C>T	NCBI36
NG_015799.1:g.309600C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4453C>T	ENSP00000360426.1:p.Arg1485Cys
ENST00000685253.1:c.*1920C>T	ENSP00000509405.1:n.*1920C>T
ENST00000685889.1:n.2112C>T
ENST00000686807.1:n.796C>T
ENST00000686954.1:c.*661C>T	ENSP00000508416.1:n.*661C>T
ENST00000688810.1:c.4405C>T	ENSP00000509140.1:p.Arg1469Cys
ENST00000689233.1:n.9585C>T
ENST00000690340.1:n.3050C>T
ENST00000692286.1:c.5245C>T	ENSP00000509490.1:p.Arg1749Cys
ENST00000692396.1:c.5329C>T	ENSP00000508605.1:p.Arg1777Cys
ENST00000371380.8:c.5377C>T MANE Select	ENSP00000360431.2:p.Arg1793Cys
ENST00000371385.8:c.4351C>T	ENSP00000360438.4:p.Arg1451Cys
ENST00000674738.1:c.3932C>T
ENST00000674827.1:c.3493C>T	ENSP00000502523.1:p.Arg1165Cys
ENST00000675218.1:c.4453C>T	ENSP00000501910.1:p.Arg1485Cys
ENST00000675487.1:c.*1310C>T	ENSP00000502340.1:n.*1310C>T
ENST00000675718.1:c.4646C>T
ENST00000260766.7:c.5377C>T	ENSP00000260766.3:p.Arg1793Cys
ENST00000371375.1:c.4453C>T	ENSP00000360426.1:p.Arg1485Cys
ENST00000371380.7:c.5377C>T	ENSP00000360431.2:p.Arg1793Cys
ENST00000371385.7:c.4453C>T	ENSP00000360438.3:p.Arg1485Cys
NM_001165979.2:c.4453C>T	NP_001159451.1:p.Arg1485Cys
NM_001288989.1:c.5329C>T	NP_001275918.1:p.Arg1777Cys
NM_016341.3:c.5377C>T	NP_057425.3:p.Arg1793Cys
XM_006717885.2:c.5419C>T	XP_006717948.1:p.Arg1807Cys
XM_006717886.2:c.5419C>T	XP_006717949.1:p.Arg1807Cys
XM_006717888.2:c.5416C>T	XP_006717951.1:p.Arg1806Cys
XM_006717889.2:c.5371C>T	XP_006717952.1:p.Arg1791Cys
XM_006717890.1:c.4495C>T	XP_006717953.1:p.Arg1499Cys
XM_011539849.1:c.5419C>T	XP_011538151.1:p.Arg1807Cys
XM_011539850.1:c.4264C>T	XP_011538152.1:p.Arg1422Cys
XM_006717885.4:c.5419C>T	XP_006717948.1:p.Arg1807Cys
XM_006717888.4:c.5416C>T	XP_006717951.1:p.Arg1806Cys
XM_006717889.4:c.5371C>T	XP_006717952.1:p.Arg1791Cys
XM_006717890.3:c.4495C>T	XP_006717953.1:p.Arg1499Cys
XM_011539849.3:c.5419C>T	XP_011538151.1:p.Arg1807Cys
XM_011539850.3:c.4264C>T	XP_011538152.1:p.Arg1422Cys
XM_017016310.2:c.5419C>T	XP_016871799.1:p.Arg1807Cys
XM_017016311.2:c.5419C>T	XP_016871800.1:p.Arg1807Cys
XM_017016312.2:c.4405C>T	XP_016871801.1:p.Arg1469Cys
NM_001288989.2:c.5329C>T	NP_001275918.1:p.Arg1777Cys
NM_016341.4:c.5377C>T MANE Select	NP_057425.3:p.Arg1793Cys