Canonical Allele Identifier: CA377642053

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058325G>C (hg19) ; chr10:g.94298568G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4433G>C	ENSP00000360426.1:p.Arg1478Thr
ENST00000685253.1:c.*1900G>C	ENSP00000509405.1:n.*1900G>C
ENST00000685889.1:n.2092G>C
ENST00000686807.1:n.776G>C
ENST00000686954.1:c.*641G>C	ENSP00000508416.1:n.*641G>C
ENST00000688810.1:c.4385G>C	ENSP00000509140.1:p.Arg1462Thr
ENST00000689233.1:n.9565G>C
ENST00000690340.1:n.3030G>C
ENST00000692286.1:c.5225G>C	ENSP00000509490.1:p.Arg1742Thr
ENST00000692396.1:c.5309G>C	ENSP00000508605.1:p.Arg1770Thr
ENST00000371380.8:c.5357G>C MANE Select	ENSP00000360431.2:p.Arg1786Thr
ENST00000371385.8:c.4331G>C	ENSP00000360438.4:p.Arg1444Thr
ENST00000674738.1:c.3912G>C
ENST00000674827.1:c.3473G>C	ENSP00000502523.1:p.Arg1158Thr
ENST00000675218.1:c.4433G>C	ENSP00000501910.1:p.Arg1478Thr
ENST00000675487.1:c.*1290G>C	ENSP00000502340.1:n.*1290G>C
ENST00000675718.1:c.4626G>C
ENST00000260766.7:c.5357G>C	ENSP00000260766.3:p.Arg1786Thr
ENST00000371375.1:c.4433G>C	ENSP00000360426.1:p.Arg1478Thr
ENST00000371380.7:c.5357G>C	ENSP00000360431.2:p.Arg1786Thr
ENST00000371385.7:c.4433G>C	ENSP00000360438.3:p.Arg1478Thr
NM_001165979.2:c.4433G>C	NP_001159451.1:p.Arg1478Thr
NM_001288989.1:c.5309G>C	NP_001275918.1:p.Arg1770Thr
NM_016341.3:c.5357G>C	NP_057425.3:p.Arg1786Thr
XM_006717885.2:c.5399G>C	XP_006717948.1:p.Arg1800Thr
XM_006717886.2:c.5399G>C	XP_006717949.1:p.Arg1800Thr
XM_006717888.2:c.5396G>C	XP_006717951.1:p.Arg1799Thr
XM_006717889.2:c.5351G>C	XP_006717952.1:p.Arg1784Thr
XM_006717890.1:c.4475G>C	XP_006717953.1:p.Arg1492Thr
XM_011539849.1:c.5399G>C	XP_011538151.1:p.Arg1800Thr
XM_011539850.1:c.4244G>C	XP_011538152.1:p.Arg1415Thr
XM_006717885.4:c.5399G>C	XP_006717948.1:p.Arg1800Thr
XM_006717888.4:c.5396G>C	XP_006717951.1:p.Arg1799Thr
XM_006717889.4:c.5351G>C	XP_006717952.1:p.Arg1784Thr
XM_006717890.3:c.4475G>C	XP_006717953.1:p.Arg1492Thr
XM_011539849.3:c.5399G>C	XP_011538151.1:p.Arg1800Thr
XM_011539850.3:c.4244G>C	XP_011538152.1:p.Arg1415Thr
XM_017016310.2:c.5399G>C	XP_016871799.1:p.Arg1800Thr
XM_017016311.2:c.5399G>C	XP_016871800.1:p.Arg1800Thr
XM_017016312.2:c.4385G>C	XP_016871801.1:p.Arg1462Thr
NM_001288989.2:c.5309G>C	NP_001275918.1:p.Arg1770Thr
NM_016341.4:c.5357G>C MANE Select	NP_057425.3:p.Arg1786Thr