Canonical Allele Identifier: CA470986439
Gene: PLCE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.96058191A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298434A>C , CM000672.2:g.94298434A>C GRCh38
NC_000010.10:g.96058191A>C , CM000672.1:g.96058191A>C GRCh37
NC_000010.9:g.96048181A>C NCBI36
NG_015799.1:g.309446A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4299A>C ENSP00000360426.1:p.Pro1433=
ENST00000685253.1:c.*1766A>C ENSP00000509405.1:n.*1766A>C
ENST00000685889.1:n.1958A>C
ENST00000686807.1:n.642A>C
ENST00000686954.1:c.*507A>C ENSP00000508416.1:n.*507A>C
ENST00000688810.1:c.4251A>C ENSP00000509140.1:p.Pro1417=
ENST00000689233.1:n.9431A>C
ENST00000690340.1:n.2896A>C
ENST00000692286.1:c.5091A>C ENSP00000509490.1:p.Pro1697=
ENST00000692396.1:c.5175A>C ENSP00000508605.1:p.Pro1725=
ENST00000371380.8:c.5223A>C MANE Select ENSP00000360431.2:p.Pro1741=
ENST00000371385.8:c.4197A>C ENSP00000360438.4:p.Pro1399=
ENST00000674738.1:c.3778A>C
ENST00000674827.1:c.3339A>C ENSP00000502523.1:p.Pro1113=
ENST00000675218.1:c.4299A>C ENSP00000501910.1:p.Pro1433=
ENST00000675487.1:c.*1156A>C ENSP00000502340.1:n.*1156A>C
ENST00000675718.1:c.4492A>C
ENST00000676102.1:c.4068A>C ENSP00000502811.1:p.Pro1356=
ENST00000260766.7:c.5223A>C ENSP00000260766.3:p.Pro1741=
ENST00000371375.1:c.4299A>C ENSP00000360426.1:p.Pro1433=
ENST00000371380.7:c.5223A>C ENSP00000360431.2:p.Pro1741=
ENST00000371385.7:c.4299A>C ENSP00000360438.3:p.Pro1433=
NM_001165979.2:c.4299A>C NP_001159451.1:p.Pro1433=
NM_001288989.1:c.5175A>C NP_001275918.1:p.Pro1725=
NM_016341.3:c.5223A>C NP_057425.3:p.Pro1741=
XM_006717885.2:c.5265A>C XP_006717948.1:p.Pro1755=
XM_006717886.2:c.5265A>C XP_006717949.1:p.Pro1755=
XM_006717888.2:c.5262A>C XP_006717951.1:p.Pro1754=
XM_006717889.2:c.5217A>C XP_006717952.1:p.Pro1739=
XM_006717890.1:c.4341A>C XP_006717953.1:p.Pro1447=
XM_011539849.1:c.5265A>C XP_011538151.1:p.Pro1755=
XM_011539850.1:c.4110A>C XP_011538152.1:p.Pro1370=
XM_006717885.4:c.5265A>C XP_006717948.1:p.Pro1755=
XM_006717888.4:c.5262A>C XP_006717951.1:p.Pro1754=
XM_006717889.4:c.5217A>C XP_006717952.1:p.Pro1739=
XM_006717890.3:c.4341A>C XP_006717953.1:p.Pro1447=
XM_011539849.3:c.5265A>C XP_011538151.1:p.Pro1755=
XM_011539850.3:c.4110A>C XP_011538152.1:p.Pro1370=
XM_017016310.2:c.5265A>C XP_016871799.1:p.Pro1755=
XM_017016311.2:c.5265A>C XP_016871800.1:p.Pro1755=
XM_017016312.2:c.4251A>C XP_016871801.1:p.Pro1417=
NM_001288989.2:c.5175A>C NP_001275918.1:p.Pro1725=
NM_016341.4:c.5223A>C MANE Select NP_057425.3:p.Pro1741=