Canonical Allele Identifier: CA2610239336

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94293378-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293378G>A , CM000672.2:g.94293378G>A	GRCh38
NC_000010.10:g.96053135G>A , CM000672.1:g.96053135G>A	GRCh37
NC_000010.9:g.96043125G>A	NCBI36
NG_015799.1:g.304390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4112-130G>A	ENSP00000360426.1:n.4112-130G>A
ENST00000685253.1:c.*1579-130G>A	ENSP00000509405.1:n.*1579-130G>A
ENST00000685889.1:n.1771-130G>A
ENST00000686807.1:n.325G>A
ENST00000686954.1:c.*320-130G>A	ENSP00000508416.1:n.*320-130G>A
ENST00000688810.1:c.4064-130G>A	ENSP00000509140.1:n.4064-130G>A
ENST00000689233.1:n.9244-130G>A
ENST00000690340.1:n.2709-130G>A
ENST00000692286.1:c.5036-5001G>A	ENSP00000509490.1:n.5036-5001G>A
ENST00000692396.1:c.4988-130G>A	ENSP00000508605.1:n.4988-130G>A
ENST00000371380.8:c.5036-130G>A MANE Select	ENSP00000360431.2:n.5036-130G>A
ENST00000371385.8:c.4010-130G>A	ENSP00000360438.4:n.4010-130G>A
ENST00000674738.1:c.3591-130G>A
ENST00000674827.1:c.3152-130G>A	ENSP00000502523.1:n.3152-130G>A
ENST00000675218.1:c.4112-130G>A	ENSP00000501910.1:n.4112-130G>A
ENST00000675487.1:c.*969-130G>A	ENSP00000502340.1:n.*969-130G>A
ENST00000675718.1:c.4305-130G>A
ENST00000676102.1:c.3881-130G>A	ENSP00000502811.1:n.3881-130G>A
ENST00000260766.7:c.5036-130G>A	ENSP00000260766.3:n.5036-130G>A
ENST00000371375.1:c.4112-130G>A	ENSP00000360426.1:n.4112-130G>A
ENST00000371380.7:c.5036-130G>A	ENSP00000360431.2:n.5036-130G>A
ENST00000371385.7:c.4112-130G>A	ENSP00000360438.3:n.4112-130G>A
NM_001165979.2:c.4112-130G>A	NP_001159451.1:n.4112-130G>A
NM_001288989.1:c.4988-130G>A	NP_001275918.1:n.4988-130G>A
NM_016341.3:c.5036-130G>A	NP_057425.3:n.5036-130G>A
XM_006717885.2:c.5078-130G>A	XP_006717948.1:n.5078-130G>A
XM_006717886.2:c.5078-130G>A	XP_006717949.1:n.5078-130G>A
XM_006717888.2:c.5075-130G>A	XP_006717951.1:n.5075-130G>A
XM_006717889.2:c.5030-130G>A	XP_006717952.1:n.5030-130G>A
XM_006717890.1:c.4154-130G>A	XP_006717953.1:n.4154-130G>A
XM_011539849.1:c.5078-130G>A	XP_011538151.1:n.5078-130G>A
XM_011539850.1:c.3923-130G>A	XP_011538152.1:n.3923-130G>A
XM_006717885.4:c.5078-130G>A	XP_006717948.1:n.5078-130G>A
XM_006717888.4:c.5075-130G>A	XP_006717951.1:n.5075-130G>A
XM_006717889.4:c.5030-130G>A	XP_006717952.1:n.5030-130G>A
XM_006717890.3:c.4154-130G>A	XP_006717953.1:n.4154-130G>A
XM_011539849.3:c.5078-130G>A	XP_011538151.1:n.5078-130G>A
XM_011539850.3:c.3923-130G>A	XP_011538152.1:n.3923-130G>A
XM_017016310.2:c.5078-130G>A	XP_016871799.1:n.5078-130G>A
XM_017016311.2:c.5078-130G>A	XP_016871800.1:n.5078-130G>A
XM_017016312.2:c.4064-130G>A	XP_016871801.1:n.4064-130G>A
NM_001288989.2:c.4988-130G>A	NP_001275918.1:n.4988-130G>A
NM_016341.4:c.5036-130G>A MANE Select	NP_057425.3:n.5036-130G>A