Canonical Allele Identifier: CA377640643

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94293563-G-T
• MyVariant Identifiers: chr10:g.96053320G>T (hg19) ; chr10:g.94293563G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293563G>T , CM000672.2:g.94293563G>T	GRCh38
NC_000010.10:g.96053320G>T , CM000672.1:g.96053320G>T	GRCh37
NC_000010.9:g.96043310G>T	NCBI36
NG_015799.1:g.304575G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4167G>T	ENSP00000360426.1:p.Arg1389Ser
ENST00000685253.1:c.*1634G>T	ENSP00000509405.1:n.*1634G>T
ENST00000685889.1:n.1826G>T
ENST00000686807.1:n.510G>T
ENST00000686954.1:c.*375G>T	ENSP00000508416.1:n.*375G>T
ENST00000688810.1:c.4119G>T	ENSP00000509140.1:p.Arg1373Ser
ENST00000689233.1:n.9299G>T
ENST00000690340.1:n.2764G>T
ENST00000692286.1:c.5036-4816G>T	ENSP00000509490.1:n.5036-4816G>T
ENST00000692396.1:c.5043G>T	ENSP00000508605.1:p.Arg1681Ser
ENST00000371380.8:c.5091G>T MANE Select	ENSP00000360431.2:p.Arg1697Ser
ENST00000371385.8:c.4065G>T	ENSP00000360438.4:p.Arg1355Ser
ENST00000674738.1:c.3646G>T
ENST00000674827.1:c.3207G>T	ENSP00000502523.1:p.Arg1069Ser
ENST00000675218.1:c.4167G>T	ENSP00000501910.1:p.Arg1389Ser
ENST00000675487.1:c.*1024G>T	ENSP00000502340.1:n.*1024G>T
ENST00000675718.1:c.4360G>T
ENST00000676102.1:c.3936G>T	ENSP00000502811.1:p.Arg1312Ser
ENST00000260766.7:c.5091G>T	ENSP00000260766.3:p.Arg1697Ser
ENST00000371375.1:c.4167G>T	ENSP00000360426.1:p.Arg1389Ser
ENST00000371380.7:c.5091G>T	ENSP00000360431.2:p.Arg1697Ser
ENST00000371385.7:c.4167G>T	ENSP00000360438.3:p.Arg1389Ser
NM_001165979.2:c.4167G>T	NP_001159451.1:p.Arg1389Ser
NM_001288989.1:c.5043G>T	NP_001275918.1:p.Arg1681Ser
NM_016341.3:c.5091G>T	NP_057425.3:p.Arg1697Ser
XM_006717885.2:c.5133G>T	XP_006717948.1:p.Arg1711Ser
XM_006717886.2:c.5133G>T	XP_006717949.1:p.Arg1711Ser
XM_006717888.2:c.5130G>T	XP_006717951.1:p.Arg1710Ser
XM_006717889.2:c.5085G>T	XP_006717952.1:p.Arg1695Ser
XM_006717890.1:c.4209G>T	XP_006717953.1:p.Arg1403Ser
XM_011539849.1:c.5133G>T	XP_011538151.1:p.Arg1711Ser
XM_011539850.1:c.3978G>T	XP_011538152.1:p.Arg1326Ser
XM_006717885.4:c.5133G>T	XP_006717948.1:p.Arg1711Ser
XM_006717888.4:c.5130G>T	XP_006717951.1:p.Arg1710Ser
XM_006717889.4:c.5085G>T	XP_006717952.1:p.Arg1695Ser
XM_006717890.3:c.4209G>T	XP_006717953.1:p.Arg1403Ser
XM_011539849.3:c.5133G>T	XP_011538151.1:p.Arg1711Ser
XM_011539850.3:c.3978G>T	XP_011538152.1:p.Arg1326Ser
XM_017016310.2:c.5133G>T	XP_016871799.1:p.Arg1711Ser
XM_017016311.2:c.5133G>T	XP_016871800.1:p.Arg1711Ser
XM_017016312.2:c.4119G>T	XP_016871801.1:p.Arg1373Ser
NM_001288989.2:c.5043G>T	NP_001275918.1:p.Arg1681Ser
NM_016341.4:c.5091G>T MANE Select	NP_057425.3:p.Arg1697Ser