Canonical Allele Identifier: CA5613420
Gene: PLCE1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 260728
dbSNP Id: rs2274223

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94306584A>G , CM000672.2:g.94306584A>G GRCh38
NC_000010.10:g.96066341A>G , CM000672.1:g.96066341A>G GRCh37
NC_000010.9:g.96056331A>G NCBI36
NG_015799.1:g.317596A>G

Transcript Alleles

HGVS Amino-acid change
NM_001165979.2:c.4856A>G VV NP_001159451.1:p.His1619Arg
NM_001288989.1:c.5732A>G VV NP_001275918.1:p.His1911Arg
NM_016341.3:c.5780A>G VV NP_057425.3:p.His1927Arg
XM_006717885.2:c.5822A>G XP_006717948.1:p.His1941Arg
XM_006717886.2:c.5822A>G XP_006717949.1:p.His1941Arg
XM_006717888.2:c.5819A>G XP_006717951.1:p.His1940Arg
XM_006717889.2:c.5774A>G XP_006717952.1:p.His1925Arg
XM_006717890.1:c.4898A>G XP_006717953.1:p.His1633Arg
XM_011539849.1:c.5822A>G XP_011538151.1:p.His1941Arg
XM_011539850.1:c.4667A>G XP_011538152.1:p.His1556Arg
XM_006717885.4:c.5822A>G
XM_006717888.4:c.5819A>G
XM_006717889.4:c.5774A>G
XM_006717890.3:c.4898A>G
XM_011539849.3:c.5822A>G
XM_011539850.3:c.4667A>G
XM_017016310.2:c.5822A>G XP_016871799.1:p.His1941Arg
XM_017016311.2:c.5822A>G XP_016871800.1:p.His1941Arg
XM_017016312.2:c.4808A>G XP_016871801.1:p.His1603Arg
ENST00000260766.7:c.5780A>G ENSP00000260766.3:p.His1927Arg
ENST00000371375.1:n.4856A>G ENSP00000360426.1:p.His1619Arg
ENST00000371380.7:c.5780A>G ENSP00000360431.2:p.His1927Arg
ENST00000371385.7:c.4856A>G ENSP00000360438.3:p.His1619Arg