Canonical Allele Identifier: CA377641714

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94298408-G-C
• MyVariant Identifiers: chr10:g.96058165G>C (hg19) ; chr10:g.94298408G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298408G>C , CM000672.2:g.94298408G>C	GRCh38
NC_000010.10:g.96058165G>C , CM000672.1:g.96058165G>C	GRCh37
NC_000010.9:g.96048155G>C	NCBI36
NG_015799.1:g.309420G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4273G>C	ENSP00000360426.1:p.Glu1425Gln
ENST00000685253.1:c.*1740G>C	ENSP00000509405.1:n.*1740G>C
ENST00000685889.1:n.1932G>C
ENST00000686807.1:n.616G>C
ENST00000686954.1:c.*481G>C	ENSP00000508416.1:n.*481G>C
ENST00000688810.1:c.4225G>C	ENSP00000509140.1:p.Glu1409Gln
ENST00000689233.1:n.9405G>C
ENST00000690340.1:n.2870G>C
ENST00000692286.1:c.5065G>C	ENSP00000509490.1:p.Glu1689Gln
ENST00000692396.1:c.5149G>C	ENSP00000508605.1:p.Glu1717Gln
ENST00000371380.8:c.5197G>C MANE Select	ENSP00000360431.2:p.Glu1733Gln
ENST00000371385.8:c.4171G>C	ENSP00000360438.4:p.Glu1391Gln
ENST00000674738.1:c.3752G>C
ENST00000674827.1:c.3313G>C	ENSP00000502523.1:p.Glu1105Gln
ENST00000675218.1:c.4273G>C	ENSP00000501910.1:p.Glu1425Gln
ENST00000675487.1:c.*1130G>C	ENSP00000502340.1:n.*1130G>C
ENST00000675718.1:c.4466G>C
ENST00000676102.1:c.4042G>C	ENSP00000502811.1:p.Glu1348Gln
ENST00000260766.7:c.5197G>C	ENSP00000260766.3:p.Glu1733Gln
ENST00000371375.1:c.4273G>C	ENSP00000360426.1:p.Glu1425Gln
ENST00000371380.7:c.5197G>C	ENSP00000360431.2:p.Glu1733Gln
ENST00000371385.7:c.4273G>C	ENSP00000360438.3:p.Glu1425Gln
NM_001165979.2:c.4273G>C	NP_001159451.1:p.Glu1425Gln
NM_001288989.1:c.5149G>C	NP_001275918.1:p.Glu1717Gln
NM_016341.3:c.5197G>C	NP_057425.3:p.Glu1733Gln
XM_006717885.2:c.5239G>C	XP_006717948.1:p.Glu1747Gln
XM_006717886.2:c.5239G>C	XP_006717949.1:p.Glu1747Gln
XM_006717888.2:c.5236G>C	XP_006717951.1:p.Glu1746Gln
XM_006717889.2:c.5191G>C	XP_006717952.1:p.Glu1731Gln
XM_006717890.1:c.4315G>C	XP_006717953.1:p.Glu1439Gln
XM_011539849.1:c.5239G>C	XP_011538151.1:p.Glu1747Gln
XM_011539850.1:c.4084G>C	XP_011538152.1:p.Glu1362Gln
XM_006717885.4:c.5239G>C	XP_006717948.1:p.Glu1747Gln
XM_006717888.4:c.5236G>C	XP_006717951.1:p.Glu1746Gln
XM_006717889.4:c.5191G>C	XP_006717952.1:p.Glu1731Gln
XM_006717890.3:c.4315G>C	XP_006717953.1:p.Glu1439Gln
XM_011539849.3:c.5239G>C	XP_011538151.1:p.Glu1747Gln
XM_011539850.3:c.4084G>C	XP_011538152.1:p.Glu1362Gln
XM_017016310.2:c.5239G>C	XP_016871799.1:p.Glu1747Gln
XM_017016311.2:c.5239G>C	XP_016871800.1:p.Glu1747Gln
XM_017016312.2:c.4225G>C	XP_016871801.1:p.Glu1409Gln
NM_001288989.2:c.5149G>C	NP_001275918.1:p.Glu1717Gln
NM_016341.4:c.5197G>C MANE Select	NP_057425.3:p.Glu1733Gln