Canonical Allele Identifier: CA377641821
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298460G>T , CM000672.2:g.94298460G>T GRCh38
NC_000010.10:g.96058217G>T , CM000672.1:g.96058217G>T GRCh37
NC_000010.9:g.96048207G>T NCBI36
NG_015799.1:g.309472G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5249G>T MANE Select ENSP00000360431.2:p.Arg1750Ile
ENST00000371385.8:c.4223G>T ENSP00000360438.4:p.Arg1408Ile
ENST00000674738.1:n.3804G>T
ENST00000674827.1:n.3365G>T ENSP00000502523.1:p.Arg1122Ile
ENST00000675218.1:n.4325G>T ENSP00000501910.1:p.Arg1442Ile
ENST00000675487.1:c.*1182G>T ENSP00000502340.1:p.=
ENST00000675718.1:n.4518G>T
ENST00000676102.1:c.4094G>T ENSP00000502811.1:p.Arg1365Ile
ENST00000260766.7:c.5249G>T ENSP00000260766.3:p.Arg1750Ile
ENST00000371375.1:n.4325G>T ENSP00000360426.1:p.Arg1442Ile
ENST00000371380.7:c.5249G>T ENSP00000360431.2:p.Arg1750Ile
ENST00000371385.7:c.4325G>T ENSP00000360438.3:p.Arg1442Ile
NM_001165979.2:c.4325G>T NP_001159451.1:p.Arg1442Ile
NM_001288989.1:c.5201G>T NP_001275918.1:p.Arg1734Ile
NM_016341.3:c.5249G>T NP_057425.3:p.Arg1750Ile
XM_006717885.2:c.5291G>T XP_006717948.1:p.Arg1764Ile
XM_006717886.2:c.5291G>T XP_006717949.1:p.Arg1764Ile
XM_006717888.2:c.5288G>T XP_006717951.1:p.Arg1763Ile
XM_006717889.2:c.5243G>T XP_006717952.1:p.Arg1748Ile
XM_006717890.1:c.4367G>T XP_006717953.1:p.Arg1456Ile
XM_011539849.1:c.5291G>T XP_011538151.1:p.Arg1764Ile
XM_011539850.1:c.4136G>T XP_011538152.1:p.Arg1379Ile
XM_006717885.4:c.5291G>T XP_006717948.1:p.Arg1764Ile
XM_006717888.4:c.5288G>T XP_006717951.1:p.Arg1763Ile
XM_006717889.4:c.5243G>T XP_006717952.1:p.Arg1748Ile
XM_006717890.3:c.4367G>T XP_006717953.1:p.Arg1456Ile
XM_011539849.3:c.5291G>T XP_011538151.1:p.Arg1764Ile
XM_011539850.3:c.4136G>T XP_011538152.1:p.Arg1379Ile
XM_017016310.2:c.5291G>T XP_016871799.1:p.Arg1764Ile
XM_017016311.2:c.5291G>T XP_016871800.1:p.Arg1764Ile
XM_017016312.2:c.4277G>T XP_016871801.1:p.Arg1426Ile
NM_001288989.2:c.5201G>T NP_001275918.1:p.Arg1734Ile
NM_016341.4:c.5249G>T MANE Select NP_057425.3:p.Arg1750Ile