Canonical Allele Identifier: CA377643119
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94304590T>C , CM000672.2:g.94304590T>C GRCh38
NC_000010.10:g.96064347T>C , CM000672.1:g.96064347T>C GRCh37
NC_000010.9:g.96054337T>C NCBI36
NG_015799.1:g.315602T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4643T>C ENSP00000360426.1:p.Phe1548Ser
ENST00000685253.1:c.*2110T>C ENSP00000509405.1:n.*2110T>C
ENST00000685889.1:n.2302T>C
ENST00000686807.1:n.986T>C
ENST00000686954.1:c.*851T>C ENSP00000508416.1:n.*851T>C
ENST00000688810.1:c.4595T>C ENSP00000509140.1:p.Phe1532Ser
ENST00000689233.1:n.9775T>C
ENST00000690340.1:n.3240T>C
ENST00000692286.1:c.5435T>C ENSP00000509490.1:p.Phe1812Ser
ENST00000692396.1:c.5519T>C ENSP00000508605.1:p.Phe1840Ser
ENST00000371380.8:c.5567T>C MANE Select ENSP00000360431.2:p.Phe1856Ser
ENST00000371385.8:c.4541T>C ENSP00000360438.4:p.Phe1514Ser
ENST00000674738.1:c.4122T>C
ENST00000674827.1:c.3683T>C ENSP00000502523.1:p.Phe1228Ser
ENST00000675218.1:c.4643T>C ENSP00000501910.1:p.Phe1548Ser
ENST00000675487.1:c.*1500T>C ENSP00000502340.1:n.*1500T>C
ENST00000675718.1:c.4836T>C
ENST00000260766.7:c.5567T>C ENSP00000260766.3:p.Phe1856Ser
ENST00000371375.1:c.4643T>C ENSP00000360426.1:p.Phe1548Ser
ENST00000371380.7:c.5567T>C ENSP00000360431.2:p.Phe1856Ser
ENST00000371385.7:c.4643T>C ENSP00000360438.3:p.Phe1548Ser
NM_001165979.2:c.4643T>C NP_001159451.1:p.Phe1548Ser
NM_001288989.1:c.5519T>C NP_001275918.1:p.Phe1840Ser
NM_016341.3:c.5567T>C NP_057425.3:p.Phe1856Ser
XM_006717885.2:c.5609T>C XP_006717948.1:p.Phe1870Ser
XM_006717886.2:c.5609T>C XP_006717949.1:p.Phe1870Ser
XM_006717888.2:c.5606T>C XP_006717951.1:p.Phe1869Ser
XM_006717889.2:c.5561T>C XP_006717952.1:p.Phe1854Ser
XM_006717890.1:c.4685T>C XP_006717953.1:p.Phe1562Ser
XM_011539849.1:c.5609T>C XP_011538151.1:p.Phe1870Ser
XM_011539850.1:c.4454T>C XP_011538152.1:p.Phe1485Ser
XM_006717885.4:c.5609T>C XP_006717948.1:p.Phe1870Ser
XM_006717888.4:c.5606T>C XP_006717951.1:p.Phe1869Ser
XM_006717889.4:c.5561T>C XP_006717952.1:p.Phe1854Ser
XM_006717890.3:c.4685T>C XP_006717953.1:p.Phe1562Ser
XM_011539849.3:c.5609T>C XP_011538151.1:p.Phe1870Ser
XM_011539850.3:c.4454T>C XP_011538152.1:p.Phe1485Ser
XM_017016310.2:c.5609T>C XP_016871799.1:p.Phe1870Ser
XM_017016311.2:c.5609T>C XP_016871800.1:p.Phe1870Ser
XM_017016312.2:c.4595T>C XP_016871801.1:p.Phe1532Ser
NM_001288989.2:c.5519T>C NP_001275918.1:p.Phe1840Ser
NM_016341.4:c.5567T>C MANE Select NP_057425.3:p.Phe1856Ser