Canonical Allele Identifier: CA377648669

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94322058A>C , CM000672.2:g.94322058A>C GRCh38
NC_000010.10:g.96081815A>C , CM000672.1:g.96081815A>C GRCh37
NC_000010.9:g.96071805A>C NCBI36
NG_015799.1:g.333070A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5576A>C (PLCE1) ENSP00000360426.1:p.Gln1859Pro
ENST00000685253.1:c.*3043A>C (PLCE1) ENSP00000509405.1:n.*3043A>C
ENST00000685889.1:n.3235A>C (PLCE1)
ENST00000686807.1:n.1919A>C (PLCE1)
ENST00000686954.1:c.*1784A>C (PLCE1) ENSP00000508416.1:n.*1784A>C
ENST00000688810.1:c.5528A>C (PLCE1) ENSP00000509140.1:p.Gln1843Pro
ENST00000689233.1:n.10708A>C (PLCE1)
ENST00000690340.1:n.4173A>C (PLCE1)
ENST00000692286.1:c.6368A>C (PLCE1) ENSP00000509490.1:p.Gln2123Pro
ENST00000692396.1:c.6452A>C (PLCE1) ENSP00000508605.1:p.Gln2151Pro
ENST00000371380.8:c.6500A>C (PLCE1) MANE Select ENSP00000360431.2:p.Gln2167Pro
ENST00000371385.8:c.5474A>C (PLCE1) ENSP00000360438.4:p.Gln1825Pro
ENST00000675218.1:c.5576A>C (PLCE1) ENSP00000501910.1:p.Gln1859Pro
ENST00000675487.1:c.*2433A>C (PLCE1) ENSP00000502340.1:n.*2433A>C
ENST00000260766.7:c.6500A>C (PLCE1) ENSP00000260766.3:p.Gln2167Pro
ENST00000371375.1:c.5576A>C (PLCE1) ENSP00000360426.1:p.Gln1859Pro
ENST00000371380.7:c.6500A>C (PLCE1) ENSP00000360431.2:p.Gln2167Pro
ENST00000371385.7:c.5576A>C (PLCE1) ENSP00000360438.3:p.Gln1859Pro
NM_001165979.2:c.5576A>C (PLCE1) NP_001159451.1:p.Gln1859Pro
NM_001288989.1:c.6452A>C (PLCE1) NP_001275918.1:p.Gln2151Pro
NM_016341.3:c.6500A>C (PLCE1) NP_057425.3:p.Gln2167Pro
XM_006717885.2:c.6542A>C (PLCE1) XP_006717948.1:p.Gln2181Pro
XM_006717886.2:c.6542A>C (PLCE1) XP_006717949.1:p.Gln2181Pro
XM_006717888.2:c.6539A>C (PLCE1) XP_006717951.1:p.Gln2180Pro
XM_006717889.2:c.6494A>C (PLCE1) XP_006717952.1:p.Gln2165Pro
XM_006717890.1:c.5618A>C (PLCE1) XP_006717953.1:p.Gln1873Pro
XM_011539849.1:c.6542A>C (PLCE1) XP_011538151.1:p.Gln2181Pro
XM_011539850.1:c.5387A>C (PLCE1) XP_011538152.1:p.Gln1796Pro
XR_945799.1:n.3311-6594T>G (NOC3L)
XM_006717885.4:c.6542A>C (PLCE1) XP_006717948.1:p.Gln2181Pro
XM_006717888.4:c.6539A>C (PLCE1) XP_006717951.1:p.Gln2180Pro
XM_006717889.4:c.6494A>C (PLCE1) XP_006717952.1:p.Gln2165Pro
XM_006717890.3:c.5618A>C (PLCE1) XP_006717953.1:p.Gln1873Pro
XM_011539849.3:c.6542A>C (PLCE1) XP_011538151.1:p.Gln2181Pro
XM_011539850.3:c.5387A>C (PLCE1) XP_011538152.1:p.Gln1796Pro
XM_017016310.2:c.6542A>C (PLCE1) XP_016871799.1:p.Gln2181Pro
XM_017016311.2:c.6542A>C (PLCE1) XP_016871800.1:p.Gln2181Pro
XM_017016312.2:c.5528A>C (PLCE1) XP_016871801.1:p.Gln1843Pro
XR_002957007.1:n.3312-6594T>G (NOC3L)
NM_001288989.2:c.6452A>C (PLCE1) NP_001275918.1:p.Gln2151Pro
NM_016341.4:c.6500A>C (PLCE1) MANE Select NP_057425.3:p.Gln2167Pro