Canonical Allele Identifier: CA5613573

Gene: PLCE1 NOC3L

Linked Data

• dbSNP Id: rs778949080
• ExAC: 10:96081696 G / A
• gnomAD v2: 10-96081696-G-A
• gnomAD v4: 10-94321939-G-A
• MyVariant Identifiers: chr10:g.96081696G>A (hg19) ; chr10:g.94321939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94321939G>A , CM000672.2:g.94321939G>A	GRCh38
NC_000010.10:g.96081696G>A , CM000672.1:g.96081696G>A	GRCh37
NC_000010.9:g.96071686G>A	NCBI36
NG_015799.1:g.332951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.5457G>A (PLCE1)	ENSP00000360426.1:p.Glu1819=
ENST00000685132.1:n.3780G>A (PLCE1)
ENST00000685253.1:c.*2924G>A (PLCE1)	ENSP00000509405.1:n.*2924G>A
ENST00000685889.1:n.3116G>A (PLCE1)
ENST00000686807.1:n.1800G>A (PLCE1)
ENST00000686954.1:c.*1665G>A (PLCE1)	ENSP00000508416.1:n.*1665G>A
ENST00000688810.1:c.5409G>A (PLCE1)	ENSP00000509140.1:p.Glu1803=
ENST00000689233.1:n.10589G>A (PLCE1)
ENST00000690340.1:n.4054G>A (PLCE1)
ENST00000692286.1:c.6249G>A (PLCE1)	ENSP00000509490.1:p.Glu2083=
ENST00000692396.1:c.6333G>A (PLCE1)	ENSP00000508605.1:p.Glu2111=
ENST00000371380.8:c.6381G>A (PLCE1) MANE Select	ENSP00000360431.2:p.Glu2127=
ENST00000371385.8:c.5355G>A (PLCE1)	ENSP00000360438.4:p.Glu1785=
ENST00000674738.1:c.4936G>A (PLCE1)
ENST00000674827.1:c.4497G>A (PLCE1)	ENSP00000502523.1:p.Glu1499=
ENST00000675218.1:c.5457G>A (PLCE1)	ENSP00000501910.1:p.Glu1819=
ENST00000675487.1:c.*2314G>A (PLCE1)	ENSP00000502340.1:n.*2314G>A
ENST00000675718.1:c.5650G>A (PLCE1)
ENST00000260766.7:c.6381G>A (PLCE1)	ENSP00000260766.3:p.Glu2127=
ENST00000371375.1:c.5457G>A (PLCE1)	ENSP00000360426.1:p.Glu1819=
ENST00000371380.7:c.6381G>A (PLCE1)	ENSP00000360431.2:p.Glu2127=
ENST00000371385.7:c.5457G>A (PLCE1)	ENSP00000360438.3:p.Glu1819=
NM_001165979.2:c.5457G>A (PLCE1)	NP_001159451.1:p.Glu1819=
NM_001288989.1:c.6333G>A (PLCE1)	NP_001275918.1:p.Glu2111=
NM_016341.3:c.6381G>A (PLCE1)	NP_057425.3:p.Glu2127=
XM_006717885.2:c.6423G>A (PLCE1)	XP_006717948.1:p.Glu2141=
XM_006717886.2:c.6423G>A (PLCE1)	XP_006717949.1:p.Glu2141=
XM_006717888.2:c.6420G>A (PLCE1)	XP_006717951.1:p.Glu2140=
XM_006717889.2:c.6375G>A (PLCE1)	XP_006717952.1:p.Glu2125=
XM_006717890.1:c.5499G>A (PLCE1)	XP_006717953.1:p.Glu1833=
XM_011539849.1:c.6423G>A (PLCE1)	XP_011538151.1:p.Glu2141=
XM_011539850.1:c.5268G>A (PLCE1)	XP_011538152.1:p.Glu1756=
XR_945799.1:n.3311-6475C>T (NOC3L)
XM_006717885.4:c.6423G>A (PLCE1)	XP_006717948.1:p.Glu2141=
XM_006717888.4:c.6420G>A (PLCE1)	XP_006717951.1:p.Glu2140=
XM_006717889.4:c.6375G>A (PLCE1)	XP_006717952.1:p.Glu2125=
XM_006717890.3:c.5499G>A (PLCE1)	XP_006717953.1:p.Glu1833=
XM_011539849.3:c.6423G>A (PLCE1)	XP_011538151.1:p.Glu2141=
XM_011539850.3:c.5268G>A (PLCE1)	XP_011538152.1:p.Glu1756=
XM_017016310.2:c.6423G>A (PLCE1)	XP_016871799.1:p.Glu2141=
XM_017016311.2:c.6423G>A (PLCE1)	XP_016871800.1:p.Glu2141=
XM_017016312.2:c.5409G>A (PLCE1)	XP_016871801.1:p.Glu1803=
XR_002957007.1:n.3312-6475C>T (NOC3L)
NM_001288989.2:c.6333G>A (PLCE1)	NP_001275918.1:p.Glu2111=
NM_016341.4:c.6381G>A (PLCE1) MANE Select	NP_057425.3:p.Glu2127=