Canonical Allele Identifier: CA377641818
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298459A>T , CM000672.2:g.94298459A>T GRCh38
NC_000010.10:g.96058216A>T , CM000672.1:g.96058216A>T GRCh37
NC_000010.9:g.96048206A>T NCBI36
NG_015799.1:g.309471A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5248A>T MANE Select ENSP00000360431.2:p.Arg1750Ter
ENST00000371385.8:c.4222A>T ENSP00000360438.4:p.Arg1408Ter
ENST00000674738.1:n.3803A>T
ENST00000674827.1:n.3364A>T ENSP00000502523.1:p.Arg1122Ter
ENST00000675218.1:n.4324A>T ENSP00000501910.1:p.Arg1442Ter
ENST00000675487.1:c.*1181A>T ENSP00000502340.1:p.=
ENST00000675718.1:n.4517A>T
ENST00000676102.1:c.4093A>T ENSP00000502811.1:p.Arg1365Ter
ENST00000260766.7:c.5248A>T ENSP00000260766.3:p.Arg1750Ter
ENST00000371375.1:n.4324A>T ENSP00000360426.1:p.Arg1442Ter
ENST00000371380.7:c.5248A>T ENSP00000360431.2:p.Arg1750Ter
ENST00000371385.7:c.4324A>T ENSP00000360438.3:p.Arg1442Ter
NM_001165979.2:c.4324A>T NP_001159451.1:p.Arg1442Ter
NM_001288989.1:c.5200A>T NP_001275918.1:p.Arg1734Ter
NM_016341.3:c.5248A>T NP_057425.3:p.Arg1750Ter
XM_006717885.2:c.5290A>T XP_006717948.1:p.Arg1764Ter
XM_006717886.2:c.5290A>T XP_006717949.1:p.Arg1764Ter
XM_006717888.2:c.5287A>T XP_006717951.1:p.Arg1763Ter
XM_006717889.2:c.5242A>T XP_006717952.1:p.Arg1748Ter
XM_006717890.1:c.4366A>T XP_006717953.1:p.Arg1456Ter
XM_011539849.1:c.5290A>T XP_011538151.1:p.Arg1764Ter
XM_011539850.1:c.4135A>T XP_011538152.1:p.Arg1379Ter
XM_006717885.4:c.5290A>T XP_006717948.1:p.Arg1764Ter
XM_006717888.4:c.5287A>T XP_006717951.1:p.Arg1763Ter
XM_006717889.4:c.5242A>T XP_006717952.1:p.Arg1748Ter
XM_006717890.3:c.4366A>T XP_006717953.1:p.Arg1456Ter
XM_011539849.3:c.5290A>T XP_011538151.1:p.Arg1764Ter
XM_011539850.3:c.4135A>T XP_011538152.1:p.Arg1379Ter
XM_017016310.2:c.5290A>T XP_016871799.1:p.Arg1764Ter
XM_017016311.2:c.5290A>T XP_016871800.1:p.Arg1764Ter
XM_017016312.2:c.4276A>T XP_016871801.1:p.Arg1426Ter
NM_001288989.2:c.5200A>T NP_001275918.1:p.Arg1734Ter
NM_016341.4:c.5248A>T MANE Select NP_057425.3:p.Arg1750Ter