Canonical Allele Identifier: CA377648429
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94270526C>A , CM000672.2:g.94270526C>A GRCh38
NC_000010.10:g.96030283C>A , CM000672.1:g.96030283C>A GRCh37
NC_000010.9:g.96020273C>A NCBI36
NG_015799.1:g.281538C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.3506C>A ENSP00000360426.1:p.Ser1169Tyr
ENST00000685253.1:c.*973C>A ENSP00000509405.1:n.*973C>A
ENST00000685889.1:n.1165C>A
ENST00000686954.1:c.4430C>A ENSP00000508416.1:p.Ser1477Tyr
ENST00000688810.1:c.3458C>A ENSP00000509140.1:p.Ser1153Tyr
ENST00000689233.1:n.4760C>A
ENST00000692286.1:c.4430C>A ENSP00000509490.1:p.Ser1477Tyr
ENST00000692396.1:c.4382C>A ENSP00000508605.1:p.Ser1461Tyr
ENST00000371380.8:c.4430C>A MANE Select ENSP00000360431.2:p.Ser1477Tyr
ENST00000371385.8:c.3404C>A ENSP00000360438.4:p.Ser1135Tyr
ENST00000674738.1:c.2835C>A
ENST00000674827.1:c.2507C>A ENSP00000502523.1:p.Ser836Tyr
ENST00000675218.1:c.3506C>A ENSP00000501910.1:p.Ser1169Tyr
ENST00000675487.1:c.*363C>A ENSP00000502340.1:n.*363C>A
ENST00000675718.1:c.3657C>A
ENST00000676102.1:c.3275C>A ENSP00000502811.1:p.Ser1092Tyr
ENST00000260766.7:c.4430C>A ENSP00000260766.3:p.Ser1477Tyr
ENST00000371375.1:c.3506C>A ENSP00000360426.1:p.Ser1169Tyr
ENST00000371380.7:c.4430C>A ENSP00000360431.2:p.Ser1477Tyr
ENST00000371385.7:c.3506C>A ENSP00000360438.3:p.Ser1169Tyr
NM_001165979.2:c.3506C>A NP_001159451.1:p.Ser1169Tyr
NM_001288989.1:c.4382C>A NP_001275918.1:p.Ser1461Tyr
NM_016341.3:c.4430C>A NP_057425.3:p.Ser1477Tyr
XM_006717885.2:c.4430C>A XP_006717948.1:p.Ser1477Tyr
XM_006717886.2:c.4430C>A XP_006717949.1:p.Ser1477Tyr
XM_006717888.2:c.4430C>A XP_006717951.1:p.Ser1477Tyr
XM_006717889.2:c.4382C>A XP_006717952.1:p.Ser1461Tyr
XM_006717890.1:c.3506C>A XP_006717953.1:p.Ser1169Tyr
XM_011539849.1:c.4430C>A XP_011538151.1:p.Ser1477Tyr
XM_011539850.1:c.3275C>A XP_011538152.1:p.Ser1092Tyr
XM_011539851.1:c.4430C>A XP_011538153.1:p.Ser1477Tyr
XM_011539852.1:c.4430C>A XP_011538154.1:p.Ser1477Tyr
XM_006717885.4:c.4430C>A XP_006717948.1:p.Ser1477Tyr
XM_006717888.4:c.4430C>A XP_006717951.1:p.Ser1477Tyr
XM_006717889.4:c.4382C>A XP_006717952.1:p.Ser1461Tyr
XM_006717890.3:c.3506C>A XP_006717953.1:p.Ser1169Tyr
XM_011539849.3:c.4430C>A XP_011538151.1:p.Ser1477Tyr
XM_011539850.3:c.3275C>A XP_011538152.1:p.Ser1092Tyr
XM_011539851.3:c.4430C>A XP_011538153.1:p.Ser1477Tyr
XM_011539852.3:c.4430C>A XP_011538154.1:p.Ser1477Tyr
XM_017016310.2:c.4430C>A XP_016871799.1:p.Ser1477Tyr
XM_017016311.2:c.4430C>A XP_016871800.1:p.Ser1477Tyr
XM_017016312.2:c.3458C>A XP_016871801.1:p.Ser1153Tyr
NM_001288989.2:c.4382C>A NP_001275918.1:p.Ser1461Tyr
NM_016341.4:c.4430C>A MANE Select NP_057425.3:p.Ser1477Tyr