Canonical Allele Identifier: CA377642041
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298561C>A , CM000672.2:g.94298561C>A GRCh38
NC_000010.10:g.96058318C>A , CM000672.1:g.96058318C>A GRCh37
NC_000010.9:g.96048308C>A NCBI36
NG_015799.1:g.309573C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5350C>A MANE Select ENSP00000360431.2:p.Leu1784Met
ENST00000371385.8:c.4324C>A ENSP00000360438.4:p.Leu1442Met
ENST00000674738.1:n.3905C>A
ENST00000674827.1:n.3466C>A ENSP00000502523.1:p.Leu1156Met
ENST00000675218.1:n.4426C>A ENSP00000501910.1:p.Leu1476Met
ENST00000675487.1:c.*1283C>A ENSP00000502340.1:p.=
ENST00000675718.1:n.4619C>A
ENST00000260766.7:c.5350C>A ENSP00000260766.3:p.Leu1784Met
ENST00000371375.1:n.4426C>A ENSP00000360426.1:p.Leu1476Met
ENST00000371380.7:c.5350C>A ENSP00000360431.2:p.Leu1784Met
ENST00000371385.7:c.4426C>A ENSP00000360438.3:p.Leu1476Met
NM_001165979.2:c.4426C>A NP_001159451.1:p.Leu1476Met
NM_001288989.1:c.5302C>A NP_001275918.1:p.Leu1768Met
NM_016341.3:c.5350C>A NP_057425.3:p.Leu1784Met
XM_006717885.2:c.5392C>A XP_006717948.1:p.Leu1798Met
XM_006717886.2:c.5392C>A XP_006717949.1:p.Leu1798Met
XM_006717888.2:c.5389C>A XP_006717951.1:p.Leu1797Met
XM_006717889.2:c.5344C>A XP_006717952.1:p.Leu1782Met
XM_006717890.1:c.4468C>A XP_006717953.1:p.Leu1490Met
XM_011539849.1:c.5392C>A XP_011538151.1:p.Leu1798Met
XM_011539850.1:c.4237C>A XP_011538152.1:p.Leu1413Met
XM_006717885.4:c.5392C>A XP_006717948.1:p.Leu1798Met
XM_006717888.4:c.5389C>A XP_006717951.1:p.Leu1797Met
XM_006717889.4:c.5344C>A XP_006717952.1:p.Leu1782Met
XM_006717890.3:c.4468C>A XP_006717953.1:p.Leu1490Met
XM_011539849.3:c.5392C>A XP_011538151.1:p.Leu1798Met
XM_011539850.3:c.4237C>A XP_011538152.1:p.Leu1413Met
XM_017016310.2:c.5392C>A XP_016871799.1:p.Leu1798Met
XM_017016311.2:c.5392C>A XP_016871800.1:p.Leu1798Met
XM_017016312.2:c.4378C>A XP_016871801.1:p.Leu1460Met
NM_001288989.2:c.5302C>A NP_001275918.1:p.Leu1768Met
NM_016341.4:c.5350C>A MANE Select NP_057425.3:p.Leu1784Met