Canonical Allele Identifier: CA377641833
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298466C>A , CM000672.2:g.94298466C>A GRCh38
NC_000010.10:g.96058223C>A , CM000672.1:g.96058223C>A GRCh37
NC_000010.9:g.96048213C>A NCBI36
NG_015799.1:g.309478C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5255C>A MANE Select ENSP00000360431.2:p.Pro1752His
ENST00000371385.8:c.4229C>A ENSP00000360438.4:p.Pro1410His
ENST00000674738.1:n.3810C>A
ENST00000674827.1:n.3371C>A ENSP00000502523.1:p.Pro1124His
ENST00000675218.1:n.4331C>A ENSP00000501910.1:p.Pro1444His
ENST00000675487.1:c.*1188C>A ENSP00000502340.1:p.=
ENST00000675718.1:n.4524C>A
ENST00000676102.1:c.4100C>A ENSP00000502811.1:p.Pro1367His
ENST00000260766.7:c.5255C>A ENSP00000260766.3:p.Pro1752His
ENST00000371375.1:n.4331C>A ENSP00000360426.1:p.Pro1444His
ENST00000371380.7:c.5255C>A ENSP00000360431.2:p.Pro1752His
ENST00000371385.7:c.4331C>A ENSP00000360438.3:p.Pro1444His
NM_001165979.2:c.4331C>A NP_001159451.1:p.Pro1444His
NM_001288989.1:c.5207C>A NP_001275918.1:p.Pro1736His
NM_016341.3:c.5255C>A NP_057425.3:p.Pro1752His
XM_006717885.2:c.5297C>A XP_006717948.1:p.Pro1766His
XM_006717886.2:c.5297C>A XP_006717949.1:p.Pro1766His
XM_006717888.2:c.5294C>A XP_006717951.1:p.Pro1765His
XM_006717889.2:c.5249C>A XP_006717952.1:p.Pro1750His
XM_006717890.1:c.4373C>A XP_006717953.1:p.Pro1458His
XM_011539849.1:c.5297C>A XP_011538151.1:p.Pro1766His
XM_011539850.1:c.4142C>A XP_011538152.1:p.Pro1381His
XM_006717885.4:c.5297C>A XP_006717948.1:p.Pro1766His
XM_006717888.4:c.5294C>A XP_006717951.1:p.Pro1765His
XM_006717889.4:c.5249C>A XP_006717952.1:p.Pro1750His
XM_006717890.3:c.4373C>A XP_006717953.1:p.Pro1458His
XM_011539849.3:c.5297C>A XP_011538151.1:p.Pro1766His
XM_011539850.3:c.4142C>A XP_011538152.1:p.Pro1381His
XM_017016310.2:c.5297C>A XP_016871799.1:p.Pro1766His
XM_017016311.2:c.5297C>A XP_016871800.1:p.Pro1766His
XM_017016312.2:c.4283C>A XP_016871801.1:p.Pro1428His
NM_001288989.2:c.5207C>A NP_001275918.1:p.Pro1736His
NM_016341.4:c.5255C>A MANE Select NP_057425.3:p.Pro1752His