Canonical Allele Identifier: CA377648217

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94321955G>A , CM000672.2:g.94321955G>A GRCh38
NC_000010.10:g.96081712G>A , CM000672.1:g.96081712G>A GRCh37
NC_000010.9:g.96071702G>A NCBI36
NG_015799.1:g.332967G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5473G>A (PLCE1) ENSP00000360426.1:p.Glu1825Lys
ENST00000685132.1:n.3796G>A (PLCE1)
ENST00000685253.1:c.*2940G>A (PLCE1) ENSP00000509405.1:n.*2940G>A
ENST00000685889.1:n.3132G>A (PLCE1)
ENST00000686807.1:n.1816G>A (PLCE1)
ENST00000686954.1:c.*1681G>A (PLCE1) ENSP00000508416.1:n.*1681G>A
ENST00000688810.1:c.5425G>A (PLCE1) ENSP00000509140.1:p.Glu1809Lys
ENST00000689233.1:n.10605G>A (PLCE1)
ENST00000690340.1:n.4070G>A (PLCE1)
ENST00000692286.1:c.6265G>A (PLCE1) ENSP00000509490.1:p.Glu2089Lys
ENST00000692396.1:c.6349G>A (PLCE1) ENSP00000508605.1:p.Glu2117Lys
ENST00000371380.8:c.6397G>A (PLCE1) MANE Select ENSP00000360431.2:p.Glu2133Lys
ENST00000371385.8:c.5371G>A (PLCE1) ENSP00000360438.4:p.Glu1791Lys
ENST00000674738.1:c.4952G>A (PLCE1)
ENST00000674827.1:c.4513G>A (PLCE1) ENSP00000502523.1:p.Glu1505Lys
ENST00000675218.1:c.5473G>A (PLCE1) ENSP00000501910.1:p.Glu1825Lys
ENST00000675487.1:c.*2330G>A (PLCE1) ENSP00000502340.1:n.*2330G>A
ENST00000675718.1:c.5666G>A (PLCE1)
ENST00000260766.7:c.6397G>A (PLCE1) ENSP00000260766.3:p.Glu2133Lys
ENST00000371375.1:c.5473G>A (PLCE1) ENSP00000360426.1:p.Glu1825Lys
ENST00000371380.7:c.6397G>A (PLCE1) ENSP00000360431.2:p.Glu2133Lys
ENST00000371385.7:c.5473G>A (PLCE1) ENSP00000360438.3:p.Glu1825Lys
NM_001165979.2:c.5473G>A (PLCE1) NP_001159451.1:p.Glu1825Lys
NM_001288989.1:c.6349G>A (PLCE1) NP_001275918.1:p.Glu2117Lys
NM_016341.3:c.6397G>A (PLCE1) NP_057425.3:p.Glu2133Lys
XM_006717885.2:c.6439G>A (PLCE1) XP_006717948.1:p.Glu2147Lys
XM_006717886.2:c.6439G>A (PLCE1) XP_006717949.1:p.Glu2147Lys
XM_006717888.2:c.6436G>A (PLCE1) XP_006717951.1:p.Glu2146Lys
XM_006717889.2:c.6391G>A (PLCE1) XP_006717952.1:p.Glu2131Lys
XM_006717890.1:c.5515G>A (PLCE1) XP_006717953.1:p.Glu1839Lys
XM_011539849.1:c.6439G>A (PLCE1) XP_011538151.1:p.Glu2147Lys
XM_011539850.1:c.5284G>A (PLCE1) XP_011538152.1:p.Glu1762Lys
XR_945799.1:n.3311-6491C>T (NOC3L)
XM_006717885.4:c.6439G>A (PLCE1) XP_006717948.1:p.Glu2147Lys
XM_006717888.4:c.6436G>A (PLCE1) XP_006717951.1:p.Glu2146Lys
XM_006717889.4:c.6391G>A (PLCE1) XP_006717952.1:p.Glu2131Lys
XM_006717890.3:c.5515G>A (PLCE1) XP_006717953.1:p.Glu1839Lys
XM_011539849.3:c.6439G>A (PLCE1) XP_011538151.1:p.Glu2147Lys
XM_011539850.3:c.5284G>A (PLCE1) XP_011538152.1:p.Glu1762Lys
XM_017016310.2:c.6439G>A (PLCE1) XP_016871799.1:p.Glu2147Lys
XM_017016311.2:c.6439G>A (PLCE1) XP_016871800.1:p.Glu2147Lys
XM_017016312.2:c.5425G>A (PLCE1) XP_016871801.1:p.Glu1809Lys
XR_002957007.1:n.3312-6491C>T (NOC3L)
NM_001288989.2:c.6349G>A (PLCE1) NP_001275918.1:p.Glu2117Lys
NM_016341.4:c.6397G>A (PLCE1) MANE Select NP_057425.3:p.Glu2133Lys