Canonical Allele Identifier: CA377648164

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94321932A>T , CM000672.2:g.94321932A>T GRCh38
NC_000010.10:g.96081689A>T , CM000672.1:g.96081689A>T GRCh37
NC_000010.9:g.96071679A>T NCBI36
NG_015799.1:g.332944A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5450A>T (PLCE1) ENSP00000360426.1:p.Asp1817Val
ENST00000685132.1:n.3773A>T (PLCE1)
ENST00000685253.1:c.*2917A>T (PLCE1) ENSP00000509405.1:n.*2917A>T
ENST00000685889.1:n.3109A>T (PLCE1)
ENST00000686807.1:n.1793A>T (PLCE1)
ENST00000686954.1:c.*1658A>T (PLCE1) ENSP00000508416.1:n.*1658A>T
ENST00000688810.1:c.5402A>T (PLCE1) ENSP00000509140.1:p.Asp1801Val
ENST00000689233.1:n.10582A>T (PLCE1)
ENST00000690340.1:n.4047A>T (PLCE1)
ENST00000692286.1:c.6242A>T (PLCE1) ENSP00000509490.1:p.Asp2081Val
ENST00000692396.1:c.6326A>T (PLCE1) ENSP00000508605.1:p.Asp2109Val
ENST00000371380.8:c.6374A>T (PLCE1) MANE Select ENSP00000360431.2:p.Asp2125Val
ENST00000371385.8:c.5348A>T (PLCE1) ENSP00000360438.4:p.Asp1783Val
ENST00000674738.1:c.4929A>T (PLCE1)
ENST00000674827.1:c.4490A>T (PLCE1) ENSP00000502523.1:p.Asp1497Val
ENST00000675218.1:c.5450A>T (PLCE1) ENSP00000501910.1:p.Asp1817Val
ENST00000675487.1:c.*2307A>T (PLCE1) ENSP00000502340.1:n.*2307A>T
ENST00000675718.1:c.5643A>T (PLCE1)
ENST00000260766.7:c.6374A>T (PLCE1) ENSP00000260766.3:p.Asp2125Val
ENST00000371375.1:c.5450A>T (PLCE1) ENSP00000360426.1:p.Asp1817Val
ENST00000371380.7:c.6374A>T (PLCE1) ENSP00000360431.2:p.Asp2125Val
ENST00000371385.7:c.5450A>T (PLCE1) ENSP00000360438.3:p.Asp1817Val
NM_001165979.2:c.5450A>T (PLCE1) NP_001159451.1:p.Asp1817Val
NM_001288989.1:c.6326A>T (PLCE1) NP_001275918.1:p.Asp2109Val
NM_016341.3:c.6374A>T (PLCE1) NP_057425.3:p.Asp2125Val
XM_006717885.2:c.6416A>T (PLCE1) XP_006717948.1:p.Asp2139Val
XM_006717886.2:c.6416A>T (PLCE1) XP_006717949.1:p.Asp2139Val
XM_006717888.2:c.6413A>T (PLCE1) XP_006717951.1:p.Asp2138Val
XM_006717889.2:c.6368A>T (PLCE1) XP_006717952.1:p.Asp2123Val
XM_006717890.1:c.5492A>T (PLCE1) XP_006717953.1:p.Asp1831Val
XM_011539849.1:c.6416A>T (PLCE1) XP_011538151.1:p.Asp2139Val
XM_011539850.1:c.5261A>T (PLCE1) XP_011538152.1:p.Asp1754Val
XR_945799.1:n.3311-6468T>A (NOC3L)
XM_006717885.4:c.6416A>T (PLCE1) XP_006717948.1:p.Asp2139Val
XM_006717888.4:c.6413A>T (PLCE1) XP_006717951.1:p.Asp2138Val
XM_006717889.4:c.6368A>T (PLCE1) XP_006717952.1:p.Asp2123Val
XM_006717890.3:c.5492A>T (PLCE1) XP_006717953.1:p.Asp1831Val
XM_011539849.3:c.6416A>T (PLCE1) XP_011538151.1:p.Asp2139Val
XM_011539850.3:c.5261A>T (PLCE1) XP_011538152.1:p.Asp1754Val
XM_017016310.2:c.6416A>T (PLCE1) XP_016871799.1:p.Asp2139Val
XM_017016311.2:c.6416A>T (PLCE1) XP_016871800.1:p.Asp2139Val
XM_017016312.2:c.5402A>T (PLCE1) XP_016871801.1:p.Asp1801Val
XR_002957007.1:n.3312-6468T>A (NOC3L)
NM_001288989.2:c.6326A>T (PLCE1) NP_001275918.1:p.Asp2109Val
NM_016341.4:c.6374A>T (PLCE1) MANE Select NP_057425.3:p.Asp2125Val