Canonical Allele Identifier: CA5613339

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298545G>C , CM000672.2:g.94298545G>C	GRCh38
NC_000010.10:g.96058302G>C , CM000672.1:g.96058302G>C	GRCh37
NC_000010.9:g.96048292G>C	NCBI36
NG_015799.1:g.309557G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5334G>C MANE Select	NP_057425.3:p.Gln1778His
ENST00000371380.8:c.5334G>C MANE Select	ENSP00000360431.2:p.Gln1778His
NM_001165979.2:c.4410G>C	NP_001159451.1:p.Gln1470His
NM_001288989.1:c.5286G>C	NP_001275918.1:p.Gln1762His
NM_001288989.2:c.5286G>C	NP_001275918.1:p.Gln1762His
NM_016341.3:c.5334G>C	NP_057425.3:p.Gln1778His
ENST00000260766.7:c.5334G>C	ENSP00000260766.3:p.Gln1778His
ENST00000371375.1:c.4410G>C	ENSP00000360426.1:p.Gln1470His
ENST00000371375.2:c.4410G>C	ENSP00000360426.1:p.Gln1470His
ENST00000371380.7:c.5334G>C	ENSP00000360431.2:p.Gln1778His
ENST00000371385.7:c.4410G>C	ENSP00000360438.3:p.Gln1470His
ENST00000371385.8:c.4308G>C	ENSP00000360438.4:p.Gln1436His
ENST00000674738.1:c.3889G>C
ENST00000674827.1:c.3450G>C	ENSP00000502523.1:p.Gln1150His
ENST00000675218.1:c.4410G>C	ENSP00000501910.1:p.Gln1470His
ENST00000675487.1:c.*1267G>C	ENSP00000502340.1:n.*1267G>C
ENST00000675718.1:c.4603G>C
ENST00000685253.1:c.*1877G>C	ENSP00000509405.1:n.*1877G>C
ENST00000685889.1:n.2069G>C
ENST00000686807.1:n.753G>C
ENST00000686954.1:c.*618G>C	ENSP00000508416.1:n.*618G>C
ENST00000688810.1:c.4362G>C	ENSP00000509140.1:p.Gln1454His
ENST00000689233.1:n.9542G>C
ENST00000690340.1:n.3007G>C
ENST00000692286.1:c.5202G>C	ENSP00000509490.1:p.Gln1734His
ENST00000692396.1:c.5286G>C	ENSP00000508605.1:p.Gln1762His
XM_006717885.2:c.5376G>C	XP_006717948.1:p.Gln1792His
XM_006717885.4:c.5376G>C	XP_006717948.1:p.Gln1792His
XM_006717886.2:c.5376G>C	XP_006717949.1:p.Gln1792His
XM_006717888.2:c.5373G>C	XP_006717951.1:p.Gln1791His
XM_006717888.4:c.5373G>C	XP_006717951.1:p.Gln1791His
XM_006717889.2:c.5328G>C	XP_006717952.1:p.Gln1776His
XM_006717889.4:c.5328G>C	XP_006717952.1:p.Gln1776His
XM_006717890.1:c.4452G>C	XP_006717953.1:p.Gln1484His
XM_006717890.3:c.4452G>C	XP_006717953.1:p.Gln1484His
XM_011539849.1:c.5376G>C	XP_011538151.1:p.Gln1792His
XM_011539849.3:c.5376G>C	XP_011538151.1:p.Gln1792His
XM_011539850.1:c.4221G>C	XP_011538152.1:p.Gln1407His
XM_011539850.3:c.4221G>C	XP_011538152.1:p.Gln1407His
XM_017016310.2:c.5376G>C	XP_016871799.1:p.Gln1792His
XM_017016311.2:c.5376G>C	XP_016871800.1:p.Gln1792His
XM_017016312.2:c.4362G>C	XP_016871801.1:p.Gln1454His