Canonical Allele Identifier: CA5613212
Gene: PLCE1 HGNC NCBI
PLCE1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 260720
dbSNP Id: rs2274224

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94279840G>C , CM000672.2:g.94279840G>C GRCh38
NC_000010.10:g.96039597G>C , CM000672.1:g.96039597G>C GRCh37
NC_000010.9:g.96029587G>C NCBI36
NG_015799.1:g.290852G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.3800G>C (PLCE1) ENSP00000360426.1:p.Arg1267Pro
ENST00000685253.1:c.*1267G>C (PLCE1) ENSP00000509405.1:n.*1267G>C
ENST00000685889.1:n.1459G>C (PLCE1)
ENST00000686954.1:c.4724G>C (PLCE1) ENSP00000508416.1:p.Arg1575Pro
ENST00000688810.1:c.3752G>C (PLCE1) ENSP00000509140.1:p.Arg1251Pro
ENST00000689233.1:n.5054G>C (PLCE1)
ENST00000692286.1:c.4724G>C (PLCE1) ENSP00000509490.1:p.Arg1575Pro
ENST00000692396.1:c.4676G>C (PLCE1) ENSP00000508605.1:p.Arg1559Pro
ENST00000371380.8:c.4724G>C (PLCE1) MANE Select ENSP00000360431.2:p.Arg1575Pro
ENST00000371385.8:c.3698G>C (PLCE1) ENSP00000360438.4:p.Arg1233Pro
ENST00000674738.1:c.3129G>C (PLCE1)
ENST00000674827.1:c.2801G>C (PLCE1) ENSP00000502523.1:p.Arg934Pro
ENST00000675218.1:c.3800G>C (PLCE1) ENSP00000501910.1:p.Arg1267Pro
ENST00000675487.1:c.*657G>C (PLCE1) ENSP00000502340.1:n.*657G>C
ENST00000675718.1:c.3951G>C (PLCE1)
ENST00000676102.1:c.3569G>C (PLCE1) ENSP00000502811.1:p.Arg1190Pro
ENST00000260766.7:c.4724G>C (PLCE1) ENSP00000260766.3:p.Arg1575Pro
ENST00000371375.1:c.3800G>C (PLCE1) ENSP00000360426.1:p.Arg1267Pro
ENST00000371380.7:c.4724G>C (PLCE1) ENSP00000360431.2:p.Arg1575Pro
ENST00000371385.7:c.3800G>C (PLCE1) ENSP00000360438.3:p.Arg1267Pro
NM_001165979.2:c.3800G>C (PLCE1) NP_001159451.1:p.Arg1267Pro
NM_001288989.1:c.4676G>C (PLCE1) NP_001275918.1:p.Arg1559Pro
NM_016341.3:c.4724G>C (PLCE1) NP_057425.3:p.Arg1575Pro
NR_033969.1:n.858C>G (PLCE1-AS1)
XM_006717885.2:c.4724G>C (PLCE1) XP_006717948.1:p.Arg1575Pro
XM_006717886.2:c.4724G>C (PLCE1) XP_006717949.1:p.Arg1575Pro
XM_006717888.2:c.4724G>C (PLCE1) XP_006717951.1:p.Arg1575Pro
XM_006717889.2:c.4676G>C (PLCE1) XP_006717952.1:p.Arg1559Pro
XM_006717890.1:c.3800G>C (PLCE1) XP_006717953.1:p.Arg1267Pro
XM_011539849.1:c.4724G>C (PLCE1) XP_011538151.1:p.Arg1575Pro
XM_011539850.1:c.3569G>C (PLCE1) XP_011538152.1:p.Arg1190Pro
XM_011539851.1:c.4724G>C (PLCE1) XP_011538153.1:p.Arg1575Pro
XM_011539852.1:c.4724G>C (PLCE1) XP_011538154.1:p.Arg1575Pro
XM_006717885.4:c.4724G>C (PLCE1) XP_006717948.1:p.Arg1575Pro
XM_006717888.4:c.4724G>C (PLCE1) XP_006717951.1:p.Arg1575Pro
XM_006717889.4:c.4676G>C (PLCE1) XP_006717952.1:p.Arg1559Pro
XM_006717890.3:c.3800G>C (PLCE1) XP_006717953.1:p.Arg1267Pro
XM_011539849.3:c.4724G>C (PLCE1) XP_011538151.1:p.Arg1575Pro
XM_011539850.3:c.3569G>C (PLCE1) XP_011538152.1:p.Arg1190Pro
XM_011539851.3:c.4724G>C (PLCE1) XP_011538153.1:p.Arg1575Pro
XM_011539852.3:c.4724G>C (PLCE1) XP_011538154.1:p.Arg1575Pro
XM_017016310.2:c.4724G>C (PLCE1) XP_016871799.1:p.Arg1575Pro
XM_017016311.2:c.4724G>C (PLCE1) XP_016871800.1:p.Arg1575Pro
XM_017016312.2:c.3752G>C (PLCE1) XP_016871801.1:p.Arg1251Pro
NM_001288989.2:c.4676G>C (PLCE1) NP_001275918.1:p.Arg1559Pro
NM_016341.4:c.4724G>C (PLCE1) MANE Select NP_057425.3:p.Arg1575Pro