Canonical Allele Identifier: CA5613324
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs371506038

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298478A>G , CM000672.2:g.94298478A>G GRCh38
NC_000010.10:g.96058235A>G , CM000672.1:g.96058235A>G GRCh37
NC_000010.9:g.96048225A>G NCBI36
NG_015799.1:g.309490A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4343A>G ENSP00000360426.1:p.His1448Arg
ENST00000685253.1:c.*1810A>G ENSP00000509405.1:n.*1810A>G
ENST00000685889.1:n.2002A>G
ENST00000686807.1:n.686A>G
ENST00000686954.1:c.*551A>G ENSP00000508416.1:n.*551A>G
ENST00000688810.1:c.4295A>G ENSP00000509140.1:p.His1432Arg
ENST00000689233.1:n.9475A>G
ENST00000690340.1:n.2940A>G
ENST00000692286.1:c.5135A>G ENSP00000509490.1:p.His1712Arg
ENST00000692396.1:c.5219A>G ENSP00000508605.1:p.His1740Arg
ENST00000371380.8:c.5267A>G MANE Select ENSP00000360431.2:p.His1756Arg
ENST00000371385.8:c.4241A>G ENSP00000360438.4:p.His1414Arg
ENST00000674738.1:c.3822A>G
ENST00000674827.1:c.3383A>G ENSP00000502523.1:p.His1128Arg
ENST00000675218.1:c.4343A>G ENSP00000501910.1:p.His1448Arg
ENST00000675487.1:c.*1200A>G ENSP00000502340.1:n.*1200A>G
ENST00000675718.1:c.4536A>G
ENST00000260766.7:c.5267A>G ENSP00000260766.3:p.His1756Arg
ENST00000371375.1:c.4343A>G ENSP00000360426.1:p.His1448Arg
ENST00000371380.7:c.5267A>G ENSP00000360431.2:p.His1756Arg
ENST00000371385.7:c.4343A>G ENSP00000360438.3:p.His1448Arg
NM_001165979.2:c.4343A>G NP_001159451.1:p.His1448Arg
NM_001288989.1:c.5219A>G NP_001275918.1:p.His1740Arg
NM_016341.3:c.5267A>G NP_057425.3:p.His1756Arg
XM_006717885.2:c.5309A>G XP_006717948.1:p.His1770Arg
XM_006717886.2:c.5309A>G XP_006717949.1:p.His1770Arg
XM_006717888.2:c.5306A>G XP_006717951.1:p.His1769Arg
XM_006717889.2:c.5261A>G XP_006717952.1:p.His1754Arg
XM_006717890.1:c.4385A>G XP_006717953.1:p.His1462Arg
XM_011539849.1:c.5309A>G XP_011538151.1:p.His1770Arg
XM_011539850.1:c.4154A>G XP_011538152.1:p.His1385Arg
XM_006717885.4:c.5309A>G XP_006717948.1:p.His1770Arg
XM_006717888.4:c.5306A>G XP_006717951.1:p.His1769Arg
XM_006717889.4:c.5261A>G XP_006717952.1:p.His1754Arg
XM_006717890.3:c.4385A>G XP_006717953.1:p.His1462Arg
XM_011539849.3:c.5309A>G XP_011538151.1:p.His1770Arg
XM_011539850.3:c.4154A>G XP_011538152.1:p.His1385Arg
XM_017016310.2:c.5309A>G XP_016871799.1:p.His1770Arg
XM_017016311.2:c.5309A>G XP_016871800.1:p.His1770Arg
XM_017016312.2:c.4295A>G XP_016871801.1:p.His1432Arg
NM_001288989.2:c.5219A>G NP_001275918.1:p.His1740Arg
NM_016341.4:c.5267A>G MANE Select NP_057425.3:p.His1756Arg