Canonical Allele Identifier: CA470986549

Gene: PLCE1

Linked Data

• dbSNP Id: rs2052923009
• gnomAD v3: 10-94298539-G-A
• gnomAD v4: 10-94298539-G-A
• MyVariant Identifiers: chr10:g.96058296G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298539G>A , CM000672.2:g.94298539G>A	GRCh38
NC_000010.10:g.96058296G>A , CM000672.1:g.96058296G>A	GRCh37
NC_000010.9:g.96048286G>A	NCBI36
NG_015799.1:g.309551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4404G>A	ENSP00000360426.1:p.Leu1468=
ENST00000685253.1:c.*1871G>A	ENSP00000509405.1:n.*1871G>A
ENST00000685889.1:n.2063G>A
ENST00000686807.1:n.747G>A
ENST00000686954.1:c.*612G>A	ENSP00000508416.1:n.*612G>A
ENST00000688810.1:c.4356G>A	ENSP00000509140.1:p.Leu1452=
ENST00000689233.1:n.9536G>A
ENST00000690340.1:n.3001G>A
ENST00000692286.1:c.5196G>A	ENSP00000509490.1:p.Leu1732=
ENST00000692396.1:c.5280G>A	ENSP00000508605.1:p.Leu1760=
ENST00000371380.8:c.5328G>A MANE Select	ENSP00000360431.2:p.Leu1776=
ENST00000371385.8:c.4302G>A	ENSP00000360438.4:p.Leu1434=
ENST00000674738.1:c.3883G>A
ENST00000674827.1:c.3444G>A	ENSP00000502523.1:p.Leu1148=
ENST00000675218.1:c.4404G>A	ENSP00000501910.1:p.Leu1468=
ENST00000675487.1:c.*1261G>A	ENSP00000502340.1:n.*1261G>A
ENST00000675718.1:c.4597G>A
ENST00000260766.7:c.5328G>A	ENSP00000260766.3:p.Leu1776=
ENST00000371375.1:c.4404G>A	ENSP00000360426.1:p.Leu1468=
ENST00000371380.7:c.5328G>A	ENSP00000360431.2:p.Leu1776=
ENST00000371385.7:c.4404G>A	ENSP00000360438.3:p.Leu1468=
NM_001165979.2:c.4404G>A	NP_001159451.1:p.Leu1468=
NM_001288989.1:c.5280G>A	NP_001275918.1:p.Leu1760=
NM_016341.3:c.5328G>A	NP_057425.3:p.Leu1776=
XM_006717885.2:c.5370G>A	XP_006717948.1:p.Leu1790=
XM_006717886.2:c.5370G>A	XP_006717949.1:p.Leu1790=
XM_006717888.2:c.5367G>A	XP_006717951.1:p.Leu1789=
XM_006717889.2:c.5322G>A	XP_006717952.1:p.Leu1774=
XM_006717890.1:c.4446G>A	XP_006717953.1:p.Leu1482=
XM_011539849.1:c.5370G>A	XP_011538151.1:p.Leu1790=
XM_011539850.1:c.4215G>A	XP_011538152.1:p.Leu1405=
XM_006717885.4:c.5370G>A	XP_006717948.1:p.Leu1790=
XM_006717888.4:c.5367G>A	XP_006717951.1:p.Leu1789=
XM_006717889.4:c.5322G>A	XP_006717952.1:p.Leu1774=
XM_006717890.3:c.4446G>A	XP_006717953.1:p.Leu1482=
XM_011539849.3:c.5370G>A	XP_011538151.1:p.Leu1790=
XM_011539850.3:c.4215G>A	XP_011538152.1:p.Leu1405=
XM_017016310.2:c.5370G>A	XP_016871799.1:p.Leu1790=
XM_017016311.2:c.5370G>A	XP_016871800.1:p.Leu1790=
XM_017016312.2:c.4356G>A	XP_016871801.1:p.Leu1452=
NM_001288989.2:c.5280G>A	NP_001275918.1:p.Leu1760=
NM_016341.4:c.5328G>A MANE Select	NP_057425.3:p.Leu1776=