Canonical Allele Identifier: CA377648104

Gene: PLCE1 NOC3L

Linked Data

• gnomAD v4: 10-94321908-A-G
• MyVariant Identifiers: chr10:g.96081665A>G (hg19) ; chr10:g.94321908A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94321908A>G , CM000672.2:g.94321908A>G	GRCh38
NC_000010.10:g.96081665A>G , CM000672.1:g.96081665A>G	GRCh37
NC_000010.9:g.96071655A>G	NCBI36
NG_015799.1:g.332920A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.5426A>G (PLCE1)	ENSP00000360426.1:p.Glu1809Gly
ENST00000685132.1:n.3749A>G (PLCE1)
ENST00000685253.1:c.*2893A>G (PLCE1)	ENSP00000509405.1:n.*2893A>G
ENST00000685889.1:n.3085A>G (PLCE1)
ENST00000686807.1:n.1769A>G (PLCE1)
ENST00000686954.1:c.*1634A>G (PLCE1)	ENSP00000508416.1:n.*1634A>G
ENST00000688810.1:c.5378A>G (PLCE1)	ENSP00000509140.1:p.Glu1793Gly
ENST00000689233.1:n.10558A>G (PLCE1)
ENST00000690340.1:n.4023A>G (PLCE1)
ENST00000692286.1:c.6218A>G (PLCE1)	ENSP00000509490.1:p.Glu2073Gly
ENST00000692396.1:c.6302A>G (PLCE1)	ENSP00000508605.1:p.Glu2101Gly
ENST00000371380.8:c.6350A>G (PLCE1) MANE Select	ENSP00000360431.2:p.Glu2117Gly
ENST00000371385.8:c.5324A>G (PLCE1)	ENSP00000360438.4:p.Glu1775Gly
ENST00000674738.1:c.4905A>G (PLCE1)
ENST00000674827.1:c.4466A>G (PLCE1)	ENSP00000502523.1:p.Glu1489Gly
ENST00000675218.1:c.5426A>G (PLCE1)	ENSP00000501910.1:p.Glu1809Gly
ENST00000675487.1:c.*2283A>G (PLCE1)	ENSP00000502340.1:n.*2283A>G
ENST00000675718.1:c.5619A>G (PLCE1)
ENST00000260766.7:c.6350A>G (PLCE1)	ENSP00000260766.3:p.Glu2117Gly
ENST00000371375.1:c.5426A>G (PLCE1)	ENSP00000360426.1:p.Glu1809Gly
ENST00000371380.7:c.6350A>G (PLCE1)	ENSP00000360431.2:p.Glu2117Gly
ENST00000371385.7:c.5426A>G (PLCE1)	ENSP00000360438.3:p.Glu1809Gly
NM_001165979.2:c.5426A>G (PLCE1)	NP_001159451.1:p.Glu1809Gly
NM_001288989.1:c.6302A>G (PLCE1)	NP_001275918.1:p.Glu2101Gly
NM_016341.3:c.6350A>G (PLCE1)	NP_057425.3:p.Glu2117Gly
XM_006717885.2:c.6392A>G (PLCE1)	XP_006717948.1:p.Glu2131Gly
XM_006717886.2:c.6392A>G (PLCE1)	XP_006717949.1:p.Glu2131Gly
XM_006717888.2:c.6389A>G (PLCE1)	XP_006717951.1:p.Glu2130Gly
XM_006717889.2:c.6344A>G (PLCE1)	XP_006717952.1:p.Glu2115Gly
XM_006717890.1:c.5468A>G (PLCE1)	XP_006717953.1:p.Glu1823Gly
XM_011539849.1:c.6392A>G (PLCE1)	XP_011538151.1:p.Glu2131Gly
XM_011539850.1:c.5237A>G (PLCE1)	XP_011538152.1:p.Glu1746Gly
XR_945799.1:n.3311-6444T>C (NOC3L)
XM_006717885.4:c.6392A>G (PLCE1)	XP_006717948.1:p.Glu2131Gly
XM_006717888.4:c.6389A>G (PLCE1)	XP_006717951.1:p.Glu2130Gly
XM_006717889.4:c.6344A>G (PLCE1)	XP_006717952.1:p.Glu2115Gly
XM_006717890.3:c.5468A>G (PLCE1)	XP_006717953.1:p.Glu1823Gly
XM_011539849.3:c.6392A>G (PLCE1)	XP_011538151.1:p.Glu2131Gly
XM_011539850.3:c.5237A>G (PLCE1)	XP_011538152.1:p.Glu1746Gly
XM_017016310.2:c.6392A>G (PLCE1)	XP_016871799.1:p.Glu2131Gly
XM_017016311.2:c.6392A>G (PLCE1)	XP_016871800.1:p.Glu2131Gly
XM_017016312.2:c.5378A>G (PLCE1)	XP_016871801.1:p.Glu1793Gly
XR_002957007.1:n.3312-6444T>C (NOC3L)
NM_001288989.2:c.6302A>G (PLCE1)	NP_001275918.1:p.Glu2101Gly
NM_016341.4:c.6350A>G (PLCE1) MANE Select	NP_057425.3:p.Glu2117Gly