Canonical Allele Identifier: CA377648226

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94321958G>C , CM000672.2:g.94321958G>C GRCh38
NC_000010.10:g.96081715G>C , CM000672.1:g.96081715G>C GRCh37
NC_000010.9:g.96071705G>C NCBI36
NG_015799.1:g.332970G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5476G>C (PLCE1) ENSP00000360426.1:p.Glu1826Gln
ENST00000685132.1:n.3799G>C (PLCE1)
ENST00000685253.1:c.*2943G>C (PLCE1) ENSP00000509405.1:n.*2943G>C
ENST00000685889.1:n.3135G>C (PLCE1)
ENST00000686807.1:n.1819G>C (PLCE1)
ENST00000686954.1:c.*1684G>C (PLCE1) ENSP00000508416.1:n.*1684G>C
ENST00000688810.1:c.5428G>C (PLCE1) ENSP00000509140.1:p.Glu1810Gln
ENST00000689233.1:n.10608G>C (PLCE1)
ENST00000690340.1:n.4073G>C (PLCE1)
ENST00000692286.1:c.6268G>C (PLCE1) ENSP00000509490.1:p.Glu2090Gln
ENST00000692396.1:c.6352G>C (PLCE1) ENSP00000508605.1:p.Glu2118Gln
ENST00000371380.8:c.6400G>C (PLCE1) MANE Select ENSP00000360431.2:p.Glu2134Gln
ENST00000371385.8:c.5374G>C (PLCE1) ENSP00000360438.4:p.Glu1792Gln
ENST00000674738.1:c.4955G>C (PLCE1)
ENST00000674827.1:c.4516G>C (PLCE1) ENSP00000502523.1:p.Glu1506Gln
ENST00000675218.1:c.5476G>C (PLCE1) ENSP00000501910.1:p.Glu1826Gln
ENST00000675487.1:c.*2333G>C (PLCE1) ENSP00000502340.1:n.*2333G>C
ENST00000675718.1:c.5669G>C (PLCE1)
ENST00000260766.7:c.6400G>C (PLCE1) ENSP00000260766.3:p.Glu2134Gln
ENST00000371375.1:c.5476G>C (PLCE1) ENSP00000360426.1:p.Glu1826Gln
ENST00000371380.7:c.6400G>C (PLCE1) ENSP00000360431.2:p.Glu2134Gln
ENST00000371385.7:c.5476G>C (PLCE1) ENSP00000360438.3:p.Glu1826Gln
NM_001165979.2:c.5476G>C (PLCE1) NP_001159451.1:p.Glu1826Gln
NM_001288989.1:c.6352G>C (PLCE1) NP_001275918.1:p.Glu2118Gln
NM_016341.3:c.6400G>C (PLCE1) NP_057425.3:p.Glu2134Gln
XM_006717885.2:c.6442G>C (PLCE1) XP_006717948.1:p.Glu2148Gln
XM_006717886.2:c.6442G>C (PLCE1) XP_006717949.1:p.Glu2148Gln
XM_006717888.2:c.6439G>C (PLCE1) XP_006717951.1:p.Glu2147Gln
XM_006717889.2:c.6394G>C (PLCE1) XP_006717952.1:p.Glu2132Gln
XM_006717890.1:c.5518G>C (PLCE1) XP_006717953.1:p.Glu1840Gln
XM_011539849.1:c.6442G>C (PLCE1) XP_011538151.1:p.Glu2148Gln
XM_011539850.1:c.5287G>C (PLCE1) XP_011538152.1:p.Glu1763Gln
XR_945799.1:n.3311-6494C>G (NOC3L)
XM_006717885.4:c.6442G>C (PLCE1) XP_006717948.1:p.Glu2148Gln
XM_006717888.4:c.6439G>C (PLCE1) XP_006717951.1:p.Glu2147Gln
XM_006717889.4:c.6394G>C (PLCE1) XP_006717952.1:p.Glu2132Gln
XM_006717890.3:c.5518G>C (PLCE1) XP_006717953.1:p.Glu1840Gln
XM_011539849.3:c.6442G>C (PLCE1) XP_011538151.1:p.Glu2148Gln
XM_011539850.3:c.5287G>C (PLCE1) XP_011538152.1:p.Glu1763Gln
XM_017016310.2:c.6442G>C (PLCE1) XP_016871799.1:p.Glu2148Gln
XM_017016311.2:c.6442G>C (PLCE1) XP_016871800.1:p.Glu2148Gln
XM_017016312.2:c.5428G>C (PLCE1) XP_016871801.1:p.Glu1810Gln
XR_002957007.1:n.3312-6494C>G (NOC3L)
NM_001288989.2:c.6352G>C (PLCE1) NP_001275918.1:p.Glu2118Gln
NM_016341.4:c.6400G>C (PLCE1) MANE Select NP_057425.3:p.Glu2134Gln