Canonical Allele Identifier: CA377641769

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94298436-C-A
• MyVariant Identifiers: chr10:g.96058193C>A (hg19) ; chr10:g.94298436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298436C>A , CM000672.2:g.94298436C>A	GRCh38
NC_000010.10:g.96058193C>A , CM000672.1:g.96058193C>A	GRCh37
NC_000010.9:g.96048183C>A	NCBI36
NG_015799.1:g.309448C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4301C>A	ENSP00000360426.1:p.Thr1434Asn
ENST00000685253.1:c.*1768C>A	ENSP00000509405.1:n.*1768C>A
ENST00000685889.1:n.1960C>A
ENST00000686807.1:n.644C>A
ENST00000686954.1:c.*509C>A	ENSP00000508416.1:n.*509C>A
ENST00000688810.1:c.4253C>A	ENSP00000509140.1:p.Thr1418Asn
ENST00000689233.1:n.9433C>A
ENST00000690340.1:n.2898C>A
ENST00000692286.1:c.5093C>A	ENSP00000509490.1:p.Thr1698Asn
ENST00000692396.1:c.5177C>A	ENSP00000508605.1:p.Thr1726Asn
ENST00000371380.8:c.5225C>A MANE Select	ENSP00000360431.2:p.Thr1742Asn
ENST00000371385.8:c.4199C>A	ENSP00000360438.4:p.Thr1400Asn
ENST00000674738.1:c.3780C>A
ENST00000674827.1:c.3341C>A	ENSP00000502523.1:p.Thr1114Asn
ENST00000675218.1:c.4301C>A	ENSP00000501910.1:p.Thr1434Asn
ENST00000675487.1:c.*1158C>A	ENSP00000502340.1:n.*1158C>A
ENST00000675718.1:c.4494C>A
ENST00000676102.1:c.4070C>A	ENSP00000502811.1:p.Thr1357Asn
ENST00000260766.7:c.5225C>A	ENSP00000260766.3:p.Thr1742Asn
ENST00000371375.1:c.4301C>A	ENSP00000360426.1:p.Thr1434Asn
ENST00000371380.7:c.5225C>A	ENSP00000360431.2:p.Thr1742Asn
ENST00000371385.7:c.4301C>A	ENSP00000360438.3:p.Thr1434Asn
NM_001165979.2:c.4301C>A	NP_001159451.1:p.Thr1434Asn
NM_001288989.1:c.5177C>A	NP_001275918.1:p.Thr1726Asn
NM_016341.3:c.5225C>A	NP_057425.3:p.Thr1742Asn
XM_006717885.2:c.5267C>A	XP_006717948.1:p.Thr1756Asn
XM_006717886.2:c.5267C>A	XP_006717949.1:p.Thr1756Asn
XM_006717888.2:c.5264C>A	XP_006717951.1:p.Thr1755Asn
XM_006717889.2:c.5219C>A	XP_006717952.1:p.Thr1740Asn
XM_006717890.1:c.4343C>A	XP_006717953.1:p.Thr1448Asn
XM_011539849.1:c.5267C>A	XP_011538151.1:p.Thr1756Asn
XM_011539850.1:c.4112C>A	XP_011538152.1:p.Thr1371Asn
XM_006717885.4:c.5267C>A	XP_006717948.1:p.Thr1756Asn
XM_006717888.4:c.5264C>A	XP_006717951.1:p.Thr1755Asn
XM_006717889.4:c.5219C>A	XP_006717952.1:p.Thr1740Asn
XM_006717890.3:c.4343C>A	XP_006717953.1:p.Thr1448Asn
XM_011539849.3:c.5267C>A	XP_011538151.1:p.Thr1756Asn
XM_011539850.3:c.4112C>A	XP_011538152.1:p.Thr1371Asn
XM_017016310.2:c.5267C>A	XP_016871799.1:p.Thr1756Asn
XM_017016311.2:c.5267C>A	XP_016871800.1:p.Thr1756Asn
XM_017016312.2:c.4253C>A	XP_016871801.1:p.Thr1418Asn
NM_001288989.2:c.5177C>A	NP_001275918.1:p.Thr1726Asn
NM_016341.4:c.5225C>A MANE Select	NP_057425.3:p.Thr1742Asn