Canonical Allele Identifier: CA377641819
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5249G>A MANE Select ENSP00000360431.2:p.Arg1750Lys
ENST00000371385.8:c.4223G>A ENSP00000360438.4:p.Arg1408Lys
ENST00000674738.1:n.3804G>A
ENST00000674827.1:n.3365G>A ENSP00000502523.1:p.Arg1122Lys
ENST00000675218.1:n.4325G>A ENSP00000501910.1:p.Arg1442Lys
ENST00000675487.1:c.*1182G>A ENSP00000502340.1:p.=
ENST00000675718.1:n.4518G>A
ENST00000676102.1:c.4094G>A ENSP00000502811.1:p.Arg1365Lys
ENST00000260766.7:c.5249G>A ENSP00000260766.3:p.Arg1750Lys
ENST00000371375.1:n.4325G>A ENSP00000360426.1:p.Arg1442Lys
ENST00000371380.7:c.5249G>A ENSP00000360431.2:p.Arg1750Lys
ENST00000371385.7:c.4325G>A ENSP00000360438.3:p.Arg1442Lys
NM_001165979.2:c.4325G>A NP_001159451.1:p.Arg1442Lys
NM_001288989.1:c.5201G>A NP_001275918.1:p.Arg1734Lys
NM_016341.3:c.5249G>A NP_057425.3:p.Arg1750Lys
XM_006717885.2:c.5291G>A XP_006717948.1:p.Arg1764Lys
XM_006717886.2:c.5291G>A XP_006717949.1:p.Arg1764Lys
XM_006717888.2:c.5288G>A XP_006717951.1:p.Arg1763Lys
XM_006717889.2:c.5243G>A XP_006717952.1:p.Arg1748Lys
XM_006717890.1:c.4367G>A XP_006717953.1:p.Arg1456Lys
XM_011539849.1:c.5291G>A XP_011538151.1:p.Arg1764Lys
XM_011539850.1:c.4136G>A XP_011538152.1:p.Arg1379Lys
XM_006717885.4:c.5291G>A XP_006717948.1:p.Arg1764Lys
XM_006717888.4:c.5288G>A XP_006717951.1:p.Arg1763Lys
XM_006717889.4:c.5243G>A XP_006717952.1:p.Arg1748Lys
XM_006717890.3:c.4367G>A XP_006717953.1:p.Arg1456Lys
XM_011539849.3:c.5291G>A XP_011538151.1:p.Arg1764Lys
XM_011539850.3:c.4136G>A XP_011538152.1:p.Arg1379Lys
XM_017016310.2:c.5291G>A XP_016871799.1:p.Arg1764Lys
XM_017016311.2:c.5291G>A XP_016871800.1:p.Arg1764Lys
XM_017016312.2:c.4277G>A XP_016871801.1:p.Arg1426Lys
NM_001288989.2:c.5201G>A NP_001275918.1:p.Arg1734Lys
NM_016341.4:c.5249G>A MANE Select NP_057425.3:p.Arg1750Lys