Canonical Allele Identifier: CA5613492

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94313379G>T , CM000672.2:g.94313379G>T	GRCh38
NC_000010.10:g.96073136G>T , CM000672.1:g.96073136G>T	GRCh37
NC_000010.9:g.96063126G>T	NCBI36
NG_015799.1:g.324391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.5205G>T	ENSP00000360426.1:p.Gln1735His
ENST00000685132.1:n.3738G>T
ENST00000685253.1:c.*2672G>T	ENSP00000509405.1:n.*2672G>T
ENST00000685889.1:n.2864G>T
ENST00000686807.1:n.1548G>T
ENST00000686954.1:c.*1413G>T	ENSP00000508416.1:n.*1413G>T
ENST00000688810.1:c.5157G>T	ENSP00000509140.1:p.Gln1719His
ENST00000689233.1:n.10337G>T
ENST00000690340.1:n.3802G>T
ENST00000692286.1:c.5997G>T	ENSP00000509490.1:p.Gln1999His
ENST00000692396.1:c.6081G>T	ENSP00000508605.1:p.Gln2027His
ENST00000371380.8:c.6129G>T MANE Select	ENSP00000360431.2:p.Gln2043His
ENST00000371385.8:c.5103G>T	ENSP00000360438.4:p.Gln1701His
ENST00000674738.1:c.4684G>T
ENST00000674827.1:c.4245G>T	ENSP00000502523.1:p.Gln1415His
ENST00000675218.1:c.5205G>T	ENSP00000501910.1:p.Gln1735His
ENST00000675487.1:c.*2062G>T	ENSP00000502340.1:n.*2062G>T
ENST00000675718.1:c.5398G>T
ENST00000260766.7:c.6129G>T	ENSP00000260766.3:p.Gln2043His
ENST00000371375.1:c.5205G>T	ENSP00000360426.1:p.Gln1735His
ENST00000371380.7:c.6129G>T	ENSP00000360431.2:p.Gln2043His
ENST00000371385.7:c.5205G>T	ENSP00000360438.3:p.Gln1735His
NM_001165979.2:c.5205G>T	NP_001159451.1:p.Gln1735His
NM_001288989.1:c.6081G>T	NP_001275918.1:p.Gln2027His
NM_016341.3:c.6129G>T	NP_057425.3:p.Gln2043His
XM_006717885.2:c.6171G>T	XP_006717948.1:p.Gln2057His
XM_006717886.2:c.6171G>T	XP_006717949.1:p.Gln2057His
XM_006717888.2:c.6168G>T	XP_006717951.1:p.Gln2056His
XM_006717889.2:c.6123G>T	XP_006717952.1:p.Gln2041His
XM_006717890.1:c.5247G>T	XP_006717953.1:p.Gln1749His
XM_011539849.1:c.6171G>T	XP_011538151.1:p.Gln2057His
XM_011539850.1:c.5016G>T	XP_011538152.1:p.Gln1672His
XM_006717885.4:c.6171G>T	XP_006717948.1:p.Gln2057His
XM_006717888.4:c.6168G>T	XP_006717951.1:p.Gln2056His
XM_006717889.4:c.6123G>T	XP_006717952.1:p.Gln2041His
XM_006717890.3:c.5247G>T	XP_006717953.1:p.Gln1749His
XM_011539849.3:c.6171G>T	XP_011538151.1:p.Gln2057His
XM_011539850.3:c.5016G>T	XP_011538152.1:p.Gln1672His
XM_017016310.2:c.6171G>T	XP_016871799.1:p.Gln2057His
XM_017016311.2:c.6171G>T	XP_016871800.1:p.Gln2057His
XM_017016312.2:c.5157G>T	XP_016871801.1:p.Gln1719His
NM_001288989.2:c.6081G>T	NP_001275918.1:p.Gln2027His
NM_016341.4:c.6129G>T MANE Select	NP_057425.3:p.Gln2043His