Canonical Allele Identifier: CA377648167

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94321934A>C , CM000672.2:g.94321934A>C GRCh38
NC_000010.10:g.96081691A>C , CM000672.1:g.96081691A>C GRCh37
NC_000010.9:g.96071681A>C NCBI36
NG_015799.1:g.332946A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5452A>C (PLCE1) ENSP00000360426.1:p.Lys1818Gln
ENST00000685132.1:n.3775A>C (PLCE1)
ENST00000685253.1:c.*2919A>C (PLCE1) ENSP00000509405.1:n.*2919A>C
ENST00000685889.1:n.3111A>C (PLCE1)
ENST00000686807.1:n.1795A>C (PLCE1)
ENST00000686954.1:c.*1660A>C (PLCE1) ENSP00000508416.1:n.*1660A>C
ENST00000688810.1:c.5404A>C (PLCE1) ENSP00000509140.1:p.Lys1802Gln
ENST00000689233.1:n.10584A>C (PLCE1)
ENST00000690340.1:n.4049A>C (PLCE1)
ENST00000692286.1:c.6244A>C (PLCE1) ENSP00000509490.1:p.Lys2082Gln
ENST00000692396.1:c.6328A>C (PLCE1) ENSP00000508605.1:p.Lys2110Gln
ENST00000371380.8:c.6376A>C (PLCE1) MANE Select ENSP00000360431.2:p.Lys2126Gln
ENST00000371385.8:c.5350A>C (PLCE1) ENSP00000360438.4:p.Lys1784Gln
ENST00000674738.1:c.4931A>C (PLCE1)
ENST00000674827.1:c.4492A>C (PLCE1) ENSP00000502523.1:p.Lys1498Gln
ENST00000675218.1:c.5452A>C (PLCE1) ENSP00000501910.1:p.Lys1818Gln
ENST00000675487.1:c.*2309A>C (PLCE1) ENSP00000502340.1:n.*2309A>C
ENST00000675718.1:c.5645A>C (PLCE1)
ENST00000260766.7:c.6376A>C (PLCE1) ENSP00000260766.3:p.Lys2126Gln
ENST00000371375.1:c.5452A>C (PLCE1) ENSP00000360426.1:p.Lys1818Gln
ENST00000371380.7:c.6376A>C (PLCE1) ENSP00000360431.2:p.Lys2126Gln
ENST00000371385.7:c.5452A>C (PLCE1) ENSP00000360438.3:p.Lys1818Gln
NM_001165979.2:c.5452A>C (PLCE1) NP_001159451.1:p.Lys1818Gln
NM_001288989.1:c.6328A>C (PLCE1) NP_001275918.1:p.Lys2110Gln
NM_016341.3:c.6376A>C (PLCE1) NP_057425.3:p.Lys2126Gln
XM_006717885.2:c.6418A>C (PLCE1) XP_006717948.1:p.Lys2140Gln
XM_006717886.2:c.6418A>C (PLCE1) XP_006717949.1:p.Lys2140Gln
XM_006717888.2:c.6415A>C (PLCE1) XP_006717951.1:p.Lys2139Gln
XM_006717889.2:c.6370A>C (PLCE1) XP_006717952.1:p.Lys2124Gln
XM_006717890.1:c.5494A>C (PLCE1) XP_006717953.1:p.Lys1832Gln
XM_011539849.1:c.6418A>C (PLCE1) XP_011538151.1:p.Lys2140Gln
XM_011539850.1:c.5263A>C (PLCE1) XP_011538152.1:p.Lys1755Gln
XR_945799.1:n.3311-6470T>G (NOC3L)
XM_006717885.4:c.6418A>C (PLCE1) XP_006717948.1:p.Lys2140Gln
XM_006717888.4:c.6415A>C (PLCE1) XP_006717951.1:p.Lys2139Gln
XM_006717889.4:c.6370A>C (PLCE1) XP_006717952.1:p.Lys2124Gln
XM_006717890.3:c.5494A>C (PLCE1) XP_006717953.1:p.Lys1832Gln
XM_011539849.3:c.6418A>C (PLCE1) XP_011538151.1:p.Lys2140Gln
XM_011539850.3:c.5263A>C (PLCE1) XP_011538152.1:p.Lys1755Gln
XM_017016310.2:c.6418A>C (PLCE1) XP_016871799.1:p.Lys2140Gln
XM_017016311.2:c.6418A>C (PLCE1) XP_016871800.1:p.Lys2140Gln
XM_017016312.2:c.5404A>C (PLCE1) XP_016871801.1:p.Lys1802Gln
XR_002957007.1:n.3312-6470T>G (NOC3L)
NM_001288989.2:c.6328A>C (PLCE1) NP_001275918.1:p.Lys2110Gln
NM_016341.4:c.6376A>C (PLCE1) MANE Select NP_057425.3:p.Lys2126Gln