Canonical Allele Identifier: CA377640927
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94293625A>G , CM000672.2:g.94293625A>G GRCh38
NC_000010.10:g.96053382A>G , CM000672.1:g.96053382A>G GRCh37
NC_000010.9:g.96043372A>G NCBI36
NG_015799.1:g.304637A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4229A>G ENSP00000360426.1:p.Lys1410Arg
ENST00000685253.1:c.*1696A>G ENSP00000509405.1:n.*1696A>G
ENST00000685889.1:n.1888A>G
ENST00000686807.1:n.572A>G
ENST00000686954.1:c.*437A>G ENSP00000508416.1:n.*437A>G
ENST00000688810.1:c.4181A>G ENSP00000509140.1:p.Lys1394Arg
ENST00000689233.1:n.9361A>G
ENST00000690340.1:n.2826A>G
ENST00000692286.1:c.5036-4754A>G ENSP00000509490.1:n.5036-4754A>G
ENST00000692396.1:c.5105A>G ENSP00000508605.1:p.Lys1702Arg
ENST00000371380.8:c.5153A>G MANE Select ENSP00000360431.2:p.Lys1718Arg
ENST00000371385.8:c.4127A>G ENSP00000360438.4:p.Lys1376Arg
ENST00000674738.1:c.3708A>G
ENST00000674827.1:c.3269A>G ENSP00000502523.1:p.Lys1090Arg
ENST00000675218.1:c.4229A>G ENSP00000501910.1:p.Lys1410Arg
ENST00000675487.1:c.*1086A>G ENSP00000502340.1:n.*1086A>G
ENST00000675718.1:c.4422A>G
ENST00000676102.1:c.3998A>G ENSP00000502811.1:p.Lys1333Arg
ENST00000260766.7:c.5153A>G ENSP00000260766.3:p.Lys1718Arg
ENST00000371375.1:c.4229A>G ENSP00000360426.1:p.Lys1410Arg
ENST00000371380.7:c.5153A>G ENSP00000360431.2:p.Lys1718Arg
ENST00000371385.7:c.4229A>G ENSP00000360438.3:p.Lys1410Arg
NM_001165979.2:c.4229A>G NP_001159451.1:p.Lys1410Arg
NM_001288989.1:c.5105A>G NP_001275918.1:p.Lys1702Arg
NM_016341.3:c.5153A>G NP_057425.3:p.Lys1718Arg
XM_006717885.2:c.5195A>G XP_006717948.1:p.Lys1732Arg
XM_006717886.2:c.5195A>G XP_006717949.1:p.Lys1732Arg
XM_006717888.2:c.5192A>G XP_006717951.1:p.Lys1731Arg
XM_006717889.2:c.5147A>G XP_006717952.1:p.Lys1716Arg
XM_006717890.1:c.4271A>G XP_006717953.1:p.Lys1424Arg
XM_011539849.1:c.5195A>G XP_011538151.1:p.Lys1732Arg
XM_011539850.1:c.4040A>G XP_011538152.1:p.Lys1347Arg
XM_006717885.4:c.5195A>G XP_006717948.1:p.Lys1732Arg
XM_006717888.4:c.5192A>G XP_006717951.1:p.Lys1731Arg
XM_006717889.4:c.5147A>G XP_006717952.1:p.Lys1716Arg
XM_006717890.3:c.4271A>G XP_006717953.1:p.Lys1424Arg
XM_011539849.3:c.5195A>G XP_011538151.1:p.Lys1732Arg
XM_011539850.3:c.4040A>G XP_011538152.1:p.Lys1347Arg
XM_017016310.2:c.5195A>G XP_016871799.1:p.Lys1732Arg
XM_017016311.2:c.5195A>G XP_016871800.1:p.Lys1732Arg
XM_017016312.2:c.4181A>G XP_016871801.1:p.Lys1394Arg
NM_001288989.2:c.5105A>G NP_001275918.1:p.Lys1702Arg
NM_016341.4:c.5153A>G MANE Select NP_057425.3:p.Lys1718Arg