Canonical Allele Identifier: CA5613342
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs184878324

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298552G>A , CM000672.2:g.94298552G>A GRCh38
NC_000010.10:g.96058309G>A , CM000672.1:g.96058309G>A GRCh37
NC_000010.9:g.96048299G>A NCBI36
NG_015799.1:g.309564G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5341G>A MANE Select ENSP00000360431.2:p.Ala1781Thr
ENST00000371385.8:c.4315G>A ENSP00000360438.4:p.Ala1439Thr
ENST00000674738.1:n.3896G>A
ENST00000674827.1:n.3457G>A ENSP00000502523.1:p.Ala1153Thr
ENST00000675218.1:n.4417G>A ENSP00000501910.1:p.Ala1473Thr
ENST00000675487.1:c.*1274G>A ENSP00000502340.1:p.=
ENST00000675718.1:n.4610G>A
ENST00000260766.7:c.5341G>A ENSP00000260766.3:p.Ala1781Thr
ENST00000371375.1:n.4417G>A ENSP00000360426.1:p.Ala1473Thr
ENST00000371380.7:c.5341G>A ENSP00000360431.2:p.Ala1781Thr
ENST00000371385.7:c.4417G>A ENSP00000360438.3:p.Ala1473Thr
NM_001165979.2:c.4417G>A NP_001159451.1:p.Ala1473Thr
NM_001288989.1:c.5293G>A NP_001275918.1:p.Ala1765Thr
NM_016341.3:c.5341G>A NP_057425.3:p.Ala1781Thr
XM_006717885.2:c.5383G>A XP_006717948.1:p.Ala1795Thr
XM_006717886.2:c.5383G>A XP_006717949.1:p.Ala1795Thr
XM_006717888.2:c.5380G>A XP_006717951.1:p.Ala1794Thr
XM_006717889.2:c.5335G>A XP_006717952.1:p.Ala1779Thr
XM_006717890.1:c.4459G>A XP_006717953.1:p.Ala1487Thr
XM_011539849.1:c.5383G>A XP_011538151.1:p.Ala1795Thr
XM_011539850.1:c.4228G>A XP_011538152.1:p.Ala1410Thr
XM_006717885.4:c.5383G>A XP_006717948.1:p.Ala1795Thr
XM_006717888.4:c.5380G>A XP_006717951.1:p.Ala1794Thr
XM_006717889.4:c.5335G>A XP_006717952.1:p.Ala1779Thr
XM_006717890.3:c.4459G>A XP_006717953.1:p.Ala1487Thr
XM_011539849.3:c.5383G>A XP_011538151.1:p.Ala1795Thr
XM_011539850.3:c.4228G>A XP_011538152.1:p.Ala1410Thr
XM_017016310.2:c.5383G>A XP_016871799.1:p.Ala1795Thr
XM_017016311.2:c.5383G>A XP_016871800.1:p.Ala1795Thr
XM_017016312.2:c.4369G>A XP_016871801.1:p.Ala1457Thr
NM_001288989.2:c.5293G>A NP_001275918.1:p.Ala1765Thr
NM_016341.4:c.5341G>A MANE Select NP_057425.3:p.Ala1781Thr