Canonical Allele Identifier: CA377642052

Gene: PLCE1

Linked Data

• dbSNP Id: rs1327628714
• gnomAD v2: 10-96058325-G-A
• gnomAD v4: 10-94298568-G-A
• MyVariant Identifiers: chr10:g.96058325G>A (hg19) ; chr10:g.94298568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298568G>A , CM000672.2:g.94298568G>A	GRCh38
NC_000010.10:g.96058325G>A , CM000672.1:g.96058325G>A	GRCh37
NC_000010.9:g.96048315G>A	NCBI36
NG_015799.1:g.309580G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4433G>A	ENSP00000360426.1:p.Arg1478Lys
ENST00000685253.1:c.*1900G>A	ENSP00000509405.1:n.*1900G>A
ENST00000685889.1:n.2092G>A
ENST00000686807.1:n.776G>A
ENST00000686954.1:c.*641G>A	ENSP00000508416.1:n.*641G>A
ENST00000688810.1:c.4385G>A	ENSP00000509140.1:p.Arg1462Lys
ENST00000689233.1:n.9565G>A
ENST00000690340.1:n.3030G>A
ENST00000692286.1:c.5225G>A	ENSP00000509490.1:p.Arg1742Lys
ENST00000692396.1:c.5309G>A	ENSP00000508605.1:p.Arg1770Lys
ENST00000371380.8:c.5357G>A MANE Select	ENSP00000360431.2:p.Arg1786Lys
ENST00000371385.8:c.4331G>A	ENSP00000360438.4:p.Arg1444Lys
ENST00000674738.1:c.3912G>A
ENST00000674827.1:c.3473G>A	ENSP00000502523.1:p.Arg1158Lys
ENST00000675218.1:c.4433G>A	ENSP00000501910.1:p.Arg1478Lys
ENST00000675487.1:c.*1290G>A	ENSP00000502340.1:n.*1290G>A
ENST00000675718.1:c.4626G>A
ENST00000260766.7:c.5357G>A	ENSP00000260766.3:p.Arg1786Lys
ENST00000371375.1:c.4433G>A	ENSP00000360426.1:p.Arg1478Lys
ENST00000371380.7:c.5357G>A	ENSP00000360431.2:p.Arg1786Lys
ENST00000371385.7:c.4433G>A	ENSP00000360438.3:p.Arg1478Lys
NM_001165979.2:c.4433G>A	NP_001159451.1:p.Arg1478Lys
NM_001288989.1:c.5309G>A	NP_001275918.1:p.Arg1770Lys
NM_016341.3:c.5357G>A	NP_057425.3:p.Arg1786Lys
XM_006717885.2:c.5399G>A	XP_006717948.1:p.Arg1800Lys
XM_006717886.2:c.5399G>A	XP_006717949.1:p.Arg1800Lys
XM_006717888.2:c.5396G>A	XP_006717951.1:p.Arg1799Lys
XM_006717889.2:c.5351G>A	XP_006717952.1:p.Arg1784Lys
XM_006717890.1:c.4475G>A	XP_006717953.1:p.Arg1492Lys
XM_011539849.1:c.5399G>A	XP_011538151.1:p.Arg1800Lys
XM_011539850.1:c.4244G>A	XP_011538152.1:p.Arg1415Lys
XM_006717885.4:c.5399G>A	XP_006717948.1:p.Arg1800Lys
XM_006717888.4:c.5396G>A	XP_006717951.1:p.Arg1799Lys
XM_006717889.4:c.5351G>A	XP_006717952.1:p.Arg1784Lys
XM_006717890.3:c.4475G>A	XP_006717953.1:p.Arg1492Lys
XM_011539849.3:c.5399G>A	XP_011538151.1:p.Arg1800Lys
XM_011539850.3:c.4244G>A	XP_011538152.1:p.Arg1415Lys
XM_017016310.2:c.5399G>A	XP_016871799.1:p.Arg1800Lys
XM_017016311.2:c.5399G>A	XP_016871800.1:p.Arg1800Lys
XM_017016312.2:c.4385G>A	XP_016871801.1:p.Arg1462Lys
NM_001288989.2:c.5309G>A	NP_001275918.1:p.Arg1770Lys
NM_016341.4:c.5357G>A MANE Select	NP_057425.3:p.Arg1786Lys