Canonical Allele Identifier: CA377640547

Gene: PLCE1

Linked Data

• dbSNP Id: rs2052709838
• gnomAD v4: 10-94293543-G-A
• MyVariant Identifiers: chr10:g.96053300G>A (hg19) ; chr10:g.94293543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293543G>A , CM000672.2:g.94293543G>A	GRCh38
NC_000010.10:g.96053300G>A , CM000672.1:g.96053300G>A	GRCh37
NC_000010.9:g.96043290G>A	NCBI36
NG_015799.1:g.304555G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4147G>A	ENSP00000360426.1:p.Gly1383Arg
ENST00000685253.1:c.*1614G>A	ENSP00000509405.1:n.*1614G>A
ENST00000685889.1:n.1806G>A
ENST00000686807.1:n.490G>A
ENST00000686954.1:c.*355G>A	ENSP00000508416.1:n.*355G>A
ENST00000688810.1:c.4099G>A	ENSP00000509140.1:p.Gly1367Arg
ENST00000689233.1:n.9279G>A
ENST00000690340.1:n.2744G>A
ENST00000692286.1:c.5036-4836G>A	ENSP00000509490.1:n.5036-4836G>A
ENST00000692396.1:c.5023G>A	ENSP00000508605.1:p.Gly1675Arg
ENST00000371380.8:c.5071G>A MANE Select	ENSP00000360431.2:p.Gly1691Arg
ENST00000371385.8:c.4045G>A	ENSP00000360438.4:p.Gly1349Arg
ENST00000674738.1:c.3626G>A
ENST00000674827.1:c.3187G>A	ENSP00000502523.1:p.Gly1063Arg
ENST00000675218.1:c.4147G>A	ENSP00000501910.1:p.Gly1383Arg
ENST00000675487.1:c.*1004G>A	ENSP00000502340.1:n.*1004G>A
ENST00000675718.1:c.4340G>A
ENST00000676102.1:c.3916G>A	ENSP00000502811.1:p.Gly1306Arg
ENST00000260766.7:c.5071G>A	ENSP00000260766.3:p.Gly1691Arg
ENST00000371375.1:c.4147G>A	ENSP00000360426.1:p.Gly1383Arg
ENST00000371380.7:c.5071G>A	ENSP00000360431.2:p.Gly1691Arg
ENST00000371385.7:c.4147G>A	ENSP00000360438.3:p.Gly1383Arg
NM_001165979.2:c.4147G>A	NP_001159451.1:p.Gly1383Arg
NM_001288989.1:c.5023G>A	NP_001275918.1:p.Gly1675Arg
NM_016341.3:c.5071G>A	NP_057425.3:p.Gly1691Arg
XM_006717885.2:c.5113G>A	XP_006717948.1:p.Gly1705Arg
XM_006717886.2:c.5113G>A	XP_006717949.1:p.Gly1705Arg
XM_006717888.2:c.5110G>A	XP_006717951.1:p.Gly1704Arg
XM_006717889.2:c.5065G>A	XP_006717952.1:p.Gly1689Arg
XM_006717890.1:c.4189G>A	XP_006717953.1:p.Gly1397Arg
XM_011539849.1:c.5113G>A	XP_011538151.1:p.Gly1705Arg
XM_011539850.1:c.3958G>A	XP_011538152.1:p.Gly1320Arg
XM_006717885.4:c.5113G>A	XP_006717948.1:p.Gly1705Arg
XM_006717888.4:c.5110G>A	XP_006717951.1:p.Gly1704Arg
XM_006717889.4:c.5065G>A	XP_006717952.1:p.Gly1689Arg
XM_006717890.3:c.4189G>A	XP_006717953.1:p.Gly1397Arg
XM_011539849.3:c.5113G>A	XP_011538151.1:p.Gly1705Arg
XM_011539850.3:c.3958G>A	XP_011538152.1:p.Gly1320Arg
XM_017016310.2:c.5113G>A	XP_016871799.1:p.Gly1705Arg
XM_017016311.2:c.5113G>A	XP_016871800.1:p.Gly1705Arg
XM_017016312.2:c.4099G>A	XP_016871801.1:p.Gly1367Arg
NM_001288989.2:c.5023G>A	NP_001275918.1:p.Gly1675Arg
NM_016341.4:c.5071G>A MANE Select	NP_057425.3:p.Gly1691Arg