Canonical Allele Identifier: CA377648678

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94322059G>T , CM000672.2:g.94322059G>T GRCh38
NC_000010.10:g.96081816G>T , CM000672.1:g.96081816G>T GRCh37
NC_000010.9:g.96071806G>T NCBI36
NG_015799.1:g.333071G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5577G>T (PLCE1) ENSP00000360426.1:p.Gln1859His
ENST00000685253.1:c.*3044G>T (PLCE1) ENSP00000509405.1:n.*3044G>T
ENST00000685889.1:n.3236G>T (PLCE1)
ENST00000686807.1:n.1920G>T (PLCE1)
ENST00000686954.1:c.*1785G>T (PLCE1) ENSP00000508416.1:n.*1785G>T
ENST00000688810.1:c.5529G>T (PLCE1) ENSP00000509140.1:p.Gln1843His
ENST00000689233.1:n.10709G>T (PLCE1)
ENST00000690340.1:n.4174G>T (PLCE1)
ENST00000692286.1:c.6369G>T (PLCE1) ENSP00000509490.1:p.Gln2123His
ENST00000692396.1:c.6453G>T (PLCE1) ENSP00000508605.1:p.Gln2151His
ENST00000371380.8:c.6501G>T (PLCE1) MANE Select ENSP00000360431.2:p.Gln2167His
ENST00000371385.8:c.5475G>T (PLCE1) ENSP00000360438.4:p.Gln1825His
ENST00000675218.1:c.5577G>T (PLCE1) ENSP00000501910.1:p.Gln1859His
ENST00000675487.1:c.*2434G>T (PLCE1) ENSP00000502340.1:n.*2434G>T
ENST00000260766.7:c.6501G>T (PLCE1) ENSP00000260766.3:p.Gln2167His
ENST00000371375.1:c.5577G>T (PLCE1) ENSP00000360426.1:p.Gln1859His
ENST00000371380.7:c.6501G>T (PLCE1) ENSP00000360431.2:p.Gln2167His
ENST00000371385.7:c.5577G>T (PLCE1) ENSP00000360438.3:p.Gln1859His
NM_001165979.2:c.5577G>T (PLCE1) NP_001159451.1:p.Gln1859His
NM_001288989.1:c.6453G>T (PLCE1) NP_001275918.1:p.Gln2151His
NM_016341.3:c.6501G>T (PLCE1) NP_057425.3:p.Gln2167His
XM_006717885.2:c.6543G>T (PLCE1) XP_006717948.1:p.Gln2181His
XM_006717886.2:c.6543G>T (PLCE1) XP_006717949.1:p.Gln2181His
XM_006717888.2:c.6540G>T (PLCE1) XP_006717951.1:p.Gln2180His
XM_006717889.2:c.6495G>T (PLCE1) XP_006717952.1:p.Gln2165His
XM_006717890.1:c.5619G>T (PLCE1) XP_006717953.1:p.Gln1873His
XM_011539849.1:c.6543G>T (PLCE1) XP_011538151.1:p.Gln2181His
XM_011539850.1:c.5388G>T (PLCE1) XP_011538152.1:p.Gln1796His
XR_945799.1:n.3311-6595C>A (NOC3L)
XM_006717885.4:c.6543G>T (PLCE1) XP_006717948.1:p.Gln2181His
XM_006717888.4:c.6540G>T (PLCE1) XP_006717951.1:p.Gln2180His
XM_006717889.4:c.6495G>T (PLCE1) XP_006717952.1:p.Gln2165His
XM_006717890.3:c.5619G>T (PLCE1) XP_006717953.1:p.Gln1873His
XM_011539849.3:c.6543G>T (PLCE1) XP_011538151.1:p.Gln2181His
XM_011539850.3:c.5388G>T (PLCE1) XP_011538152.1:p.Gln1796His
XM_017016310.2:c.6543G>T (PLCE1) XP_016871799.1:p.Gln2181His
XM_017016311.2:c.6543G>T (PLCE1) XP_016871800.1:p.Gln2181His
XM_017016312.2:c.5529G>T (PLCE1) XP_016871801.1:p.Gln1843His
XR_002957007.1:n.3312-6595C>A (NOC3L)
NM_001288989.2:c.6453G>T (PLCE1) NP_001275918.1:p.Gln2151His
NM_016341.4:c.6501G>T (PLCE1) MANE Select NP_057425.3:p.Gln2167His