Canonical Allele Identifier: CA5613339

Gene: PLCE1

Linked Data

• dbSNP Id: rs773347686
• ExAC: 10:96058302 G / C
• gnomAD: 10:96058302 G / C
• MyVariant Identifiers: chr10:g.96058302G>C (hg19) ; chr10:g.94298545G>C (hg38)

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_001165979.2:c.4410G>C	NP_001159451.1:p.Gln1470His
NM_001288989.1:c.5286G>C	NP_001275918.1:p.Gln1762His
NM_016341.3:c.5334G>C	NP_057425.3:p.Gln1778His
XM_006717885.2: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_006717889.2:c.5328G>C	XP_006717952.1:p.Gln1776His
XM_006717890.1:c.4452G>C	XP_006717953.1:p.Gln1484His
XM_011539849.1:c.5376G>C	XP_011538151.1:p.Gln1792His
XM_011539850.1:c.4221G>C	XP_011538152.1:p.Gln1407His
XM_006717885.4:c.5376G>C	XP_006717948.1:p.Gln1792His
XM_006717888.4:c.5373G>C	XP_006717951.1:p.Gln1791His
XM_006717889.4:c.5328G>C	XP_006717952.1:p.Gln1776His
XM_006717890.3:c.4452G>C	XP_006717953.1:p.Gln1484His
XM_011539849.3:c.5376G>C	XP_011538151.1:p.Gln1792His
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
NM_001288989.2:c.5286G>C	NP_001275918.1:p.Gln1762His
NM_016341.4:c.5334G>C MANE Select	NP_057425.3:p.Gln1778His
ENST00000260766.7:c.5334G>C	ENSP00000260766.3:p.Gln1778His
ENST00000371375.1:n.4410G>C	ENSP00000360426.1:p.Gln1470His
ENST00000371380.7:c.5334G>C	ENSP00000360431.2:p.Gln1778His
ENST00000371385.7:c.4410G>C	ENSP00000360438.3:p.Gln1470His