Canonical Allele Identifier: CA5613348

Gene: PLCE1

Linked Data

• dbSNP Id: rs753458158
• ExAC: 10:96058344 C / T
• gnomAD v2: 10-96058344-C-T
• MyVariant Identifiers: chr10:g.96058344C>T (hg19) ; chr10:g.94298587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298587C>T , CM000672.2:g.94298587C>T	GRCh38
NC_000010.10:g.96058344C>T , CM000672.1:g.96058344C>T	GRCh37
NC_000010.9:g.96048334C>T	NCBI36
NG_015799.1:g.309599C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4452C>T	ENSP00000360426.1:p.Thr1484=
ENST00000685253.1:c.*1919C>T	ENSP00000509405.1:n.*1919C>T
ENST00000685889.1:n.2111C>T
ENST00000686807.1:n.795C>T
ENST00000686954.1:c.*660C>T	ENSP00000508416.1:n.*660C>T
ENST00000688810.1:c.4404C>T	ENSP00000509140.1:p.Thr1468=
ENST00000689233.1:n.9584C>T
ENST00000690340.1:n.3049C>T
ENST00000692286.1:c.5244C>T	ENSP00000509490.1:p.Thr1748=
ENST00000692396.1:c.5328C>T	ENSP00000508605.1:p.Thr1776=
ENST00000371380.8:c.5376C>T MANE Select	ENSP00000360431.2:p.Thr1792=
ENST00000371385.8:c.4350C>T	ENSP00000360438.4:p.Thr1450=
ENST00000674738.1:c.3931C>T
ENST00000674827.1:c.3492C>T	ENSP00000502523.1:p.Thr1164=
ENST00000675218.1:c.4452C>T	ENSP00000501910.1:p.Thr1484=
ENST00000675487.1:c.*1309C>T	ENSP00000502340.1:n.*1309C>T
ENST00000675718.1:c.4645C>T
ENST00000260766.7:c.5376C>T	ENSP00000260766.3:p.Thr1792=
ENST00000371375.1:c.4452C>T	ENSP00000360426.1:p.Thr1484=
ENST00000371380.7:c.5376C>T	ENSP00000360431.2:p.Thr1792=
ENST00000371385.7:c.4452C>T	ENSP00000360438.3:p.Thr1484=
NM_001165979.2:c.4452C>T	NP_001159451.1:p.Thr1484=
NM_001288989.1:c.5328C>T	NP_001275918.1:p.Thr1776=
NM_016341.3:c.5376C>T	NP_057425.3:p.Thr1792=
XM_006717885.2:c.5418C>T	XP_006717948.1:p.Thr1806=
XM_006717886.2:c.5418C>T	XP_006717949.1:p.Thr1806=
XM_006717888.2:c.5415C>T	XP_006717951.1:p.Thr1805=
XM_006717889.2:c.5370C>T	XP_006717952.1:p.Thr1790=
XM_006717890.1:c.4494C>T	XP_006717953.1:p.Thr1498=
XM_011539849.1:c.5418C>T	XP_011538151.1:p.Thr1806=
XM_011539850.1:c.4263C>T	XP_011538152.1:p.Thr1421=
XM_006717885.4:c.5418C>T	XP_006717948.1:p.Thr1806=
XM_006717888.4:c.5415C>T	XP_006717951.1:p.Thr1805=
XM_006717889.4:c.5370C>T	XP_006717952.1:p.Thr1790=
XM_006717890.3:c.4494C>T	XP_006717953.1:p.Thr1498=
XM_011539849.3:c.5418C>T	XP_011538151.1:p.Thr1806=
XM_011539850.3:c.4263C>T	XP_011538152.1:p.Thr1421=
XM_017016310.2:c.5418C>T	XP_016871799.1:p.Thr1806=
XM_017016311.2:c.5418C>T	XP_016871800.1:p.Thr1806=
XM_017016312.2:c.4404C>T	XP_016871801.1:p.Thr1468=
NM_001288989.2:c.5328C>T	NP_001275918.1:p.Thr1776=
NM_016341.4:c.5376C>T MANE Select	NP_057425.3:p.Thr1792=