Canonical Allele Identifier: CA211599510

Gene: PLCE1

Linked Data

• dbSNP Id: rs1038433250
• gnomAD v2: 10-96058136-G-A
• gnomAD v4: 10-94298379-G-A
• MyVariant Identifiers: chr10:g.96058136G>A (hg19) ; chr10:g.94298379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298379G>A , CM000672.2:g.94298379G>A	GRCh38
NC_000010.10:g.96058136G>A , CM000672.1:g.96058136G>A	GRCh37
NC_000010.9:g.96048126G>A	NCBI36
NG_015799.1:g.309391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4244G>A	ENSP00000360426.1:p.Ser1415Asn
ENST00000685253.1:c.*1711G>A	ENSP00000509405.1:n.*1711G>A
ENST00000685889.1:n.1903G>A
ENST00000686807.1:n.587G>A
ENST00000686954.1:c.*452G>A	ENSP00000508416.1:n.*452G>A
ENST00000688810.1:c.4196G>A	ENSP00000509140.1:p.Ser1399Asn
ENST00000689233.1:n.9376G>A
ENST00000690340.1:n.2841G>A
ENST00000692286.1:c.5036G>A	ENSP00000509490.1:p.Gly1679Asp
ENST00000692396.1:c.5120G>A	ENSP00000508605.1:p.Ser1707Asn
ENST00000371380.8:c.5168G>A MANE Select	ENSP00000360431.2:p.Ser1723Asn
ENST00000371385.8:c.4142G>A	ENSP00000360438.4:p.Ser1381Asn
ENST00000674738.1:c.3723G>A
ENST00000674827.1:c.3284G>A	ENSP00000502523.1:p.Ser1095Asn
ENST00000675218.1:c.4244G>A	ENSP00000501910.1:p.Ser1415Asn
ENST00000675487.1:c.*1101G>A	ENSP00000502340.1:n.*1101G>A
ENST00000675718.1:c.4437G>A
ENST00000676102.1:c.4013G>A	ENSP00000502811.1:p.Ser1338Asn
ENST00000260766.7:c.5168G>A	ENSP00000260766.3:p.Ser1723Asn
ENST00000371375.1:c.4244G>A	ENSP00000360426.1:p.Ser1415Asn
ENST00000371380.7:c.5168G>A	ENSP00000360431.2:p.Ser1723Asn
ENST00000371385.7:c.4244G>A	ENSP00000360438.3:p.Ser1415Asn
NM_001165979.2:c.4244G>A	NP_001159451.1:p.Ser1415Asn
NM_001288989.1:c.5120G>A	NP_001275918.1:p.Ser1707Asn
NM_016341.3:c.5168G>A	NP_057425.3:p.Ser1723Asn
XM_006717885.2:c.5210G>A	XP_006717948.1:p.Ser1737Asn
XM_006717886.2:c.5210G>A	XP_006717949.1:p.Ser1737Asn
XM_006717888.2:c.5207G>A	XP_006717951.1:p.Ser1736Asn
XM_006717889.2:c.5162G>A	XP_006717952.1:p.Ser1721Asn
XM_006717890.1:c.4286G>A	XP_006717953.1:p.Ser1429Asn
XM_011539849.1:c.5210G>A	XP_011538151.1:p.Ser1737Asn
XM_011539850.1:c.4055G>A	XP_011538152.1:p.Ser1352Asn
XM_006717885.4:c.5210G>A	XP_006717948.1:p.Ser1737Asn
XM_006717888.4:c.5207G>A	XP_006717951.1:p.Ser1736Asn
XM_006717889.4:c.5162G>A	XP_006717952.1:p.Ser1721Asn
XM_006717890.3:c.4286G>A	XP_006717953.1:p.Ser1429Asn
XM_011539849.3:c.5210G>A	XP_011538151.1:p.Ser1737Asn
XM_011539850.3:c.4055G>A	XP_011538152.1:p.Ser1352Asn
XM_017016310.2:c.5210G>A	XP_016871799.1:p.Ser1737Asn
XM_017016311.2:c.5210G>A	XP_016871800.1:p.Ser1737Asn
XM_017016312.2:c.4196G>A	XP_016871801.1:p.Ser1399Asn
NM_001288989.2:c.5120G>A	NP_001275918.1:p.Ser1707Asn
NM_016341.4:c.5168G>A MANE Select	NP_057425.3:p.Ser1723Asn