Canonical Allele Identifier: CA5613312
Gene: PLCE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 301729
ClinVar RCV Id: RCV000263203
dbSNP Id: rs752359550

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298386T>C , CM000672.2:g.94298386T>C GRCh38
NC_000010.10:g.96058143T>C , CM000672.1:g.96058143T>C GRCh37
NC_000010.9:g.96048133T>C NCBI36
NG_015799.1:g.309398T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5175T>C MANE Select ENSP00000360431.2:p.Cys1725=
ENST00000371385.8:c.4149T>C ENSP00000360438.4:p.Cys1383=
ENST00000674738.1:n.3730T>C
ENST00000674827.1:n.3291T>C ENSP00000502523.1:p.Cys1097=
ENST00000675218.1:n.4251T>C ENSP00000501910.1:p.Cys1417=
ENST00000675487.1:c.*1108T>C ENSP00000502340.1:p.=
ENST00000675718.1:n.4444T>C
ENST00000676102.1:c.4020T>C ENSP00000502811.1:p.Cys1340=
ENST00000260766.7:c.5175T>C ENSP00000260766.3:p.Cys1725=
ENST00000371375.1:n.4251T>C ENSP00000360426.1:p.Cys1417=
ENST00000371380.7:c.5175T>C ENSP00000360431.2:p.Cys1725=
ENST00000371385.7:c.4251T>C ENSP00000360438.3:p.Cys1417=
NM_001165979.2:c.4251T>C NP_001159451.1:p.Cys1417=
NM_001288989.1:c.5127T>C NP_001275918.1:p.Cys1709=
NM_016341.3:c.5175T>C NP_057425.3:p.Cys1725=
XM_006717885.2:c.5217T>C XP_006717948.1:p.Cys1739=
XM_006717886.2:c.5217T>C XP_006717949.1:p.Cys1739=
XM_006717888.2:c.5214T>C XP_006717951.1:p.Cys1738=
XM_006717889.2:c.5169T>C XP_006717952.1:p.Cys1723=
XM_006717890.1:c.4293T>C XP_006717953.1:p.Cys1431=
XM_011539849.1:c.5217T>C XP_011538151.1:p.Cys1739=
XM_011539850.1:c.4062T>C XP_011538152.1:p.Cys1354=
XM_006717885.4:c.5217T>C XP_006717948.1:p.Cys1739=
XM_006717888.4:c.5214T>C XP_006717951.1:p.Cys1738=
XM_006717889.4:c.5169T>C XP_006717952.1:p.Cys1723=
XM_006717890.3:c.4293T>C XP_006717953.1:p.Cys1431=
XM_011539849.3:c.5217T>C XP_011538151.1:p.Cys1739=
XM_011539850.3:c.4062T>C XP_011538152.1:p.Cys1354=
XM_017016310.2:c.5217T>C XP_016871799.1:p.Cys1739=
XM_017016311.2:c.5217T>C XP_016871800.1:p.Cys1739=
XM_017016312.2:c.4203T>C XP_016871801.1:p.Cys1401=
NM_001288989.2:c.5127T>C NP_001275918.1:p.Cys1709=
NM_016341.4:c.5175T>C MANE Select NP_057425.3:p.Cys1725=