Canonical Allele Identifier: CA377640612
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94293556A>G , CM000672.2:g.94293556A>G GRCh38
NC_000010.10:g.96053313A>G , CM000672.1:g.96053313A>G GRCh37
NC_000010.9:g.96043303A>G NCBI36
NG_015799.1:g.304568A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4160A>G ENSP00000360426.1:p.Lys1387Arg
ENST00000685253.1:c.*1627A>G ENSP00000509405.1:n.*1627A>G
ENST00000685889.1:n.1819A>G
ENST00000686807.1:n.503A>G
ENST00000686954.1:c.*368A>G ENSP00000508416.1:n.*368A>G
ENST00000688810.1:c.4112A>G ENSP00000509140.1:p.Lys1371Arg
ENST00000689233.1:n.9292A>G
ENST00000690340.1:n.2757A>G
ENST00000692286.1:c.5036-4823A>G ENSP00000509490.1:n.5036-4823A>G
ENST00000692396.1:c.5036A>G ENSP00000508605.1:p.Lys1679Arg
ENST00000371380.8:c.5084A>G MANE Select ENSP00000360431.2:p.Lys1695Arg
ENST00000371385.8:c.4058A>G ENSP00000360438.4:p.Lys1353Arg
ENST00000674738.1:c.3639A>G
ENST00000674827.1:c.3200A>G ENSP00000502523.1:p.Lys1067Arg
ENST00000675218.1:c.4160A>G ENSP00000501910.1:p.Lys1387Arg
ENST00000675487.1:c.*1017A>G ENSP00000502340.1:n.*1017A>G
ENST00000675718.1:c.4353A>G
ENST00000676102.1:c.3929A>G ENSP00000502811.1:p.Lys1310Arg
ENST00000260766.7:c.5084A>G ENSP00000260766.3:p.Lys1695Arg
ENST00000371375.1:c.4160A>G ENSP00000360426.1:p.Lys1387Arg
ENST00000371380.7:c.5084A>G ENSP00000360431.2:p.Lys1695Arg
ENST00000371385.7:c.4160A>G ENSP00000360438.3:p.Lys1387Arg
NM_001165979.2:c.4160A>G NP_001159451.1:p.Lys1387Arg
NM_001288989.1:c.5036A>G NP_001275918.1:p.Lys1679Arg
NM_016341.3:c.5084A>G NP_057425.3:p.Lys1695Arg
XM_006717885.2:c.5126A>G XP_006717948.1:p.Lys1709Arg
XM_006717886.2:c.5126A>G XP_006717949.1:p.Lys1709Arg
XM_006717888.2:c.5123A>G XP_006717951.1:p.Lys1708Arg
XM_006717889.2:c.5078A>G XP_006717952.1:p.Lys1693Arg
XM_006717890.1:c.4202A>G XP_006717953.1:p.Lys1401Arg
XM_011539849.1:c.5126A>G XP_011538151.1:p.Lys1709Arg
XM_011539850.1:c.3971A>G XP_011538152.1:p.Lys1324Arg
XM_006717885.4:c.5126A>G XP_006717948.1:p.Lys1709Arg
XM_006717888.4:c.5123A>G XP_006717951.1:p.Lys1708Arg
XM_006717889.4:c.5078A>G XP_006717952.1:p.Lys1693Arg
XM_006717890.3:c.4202A>G XP_006717953.1:p.Lys1401Arg
XM_011539849.3:c.5126A>G XP_011538151.1:p.Lys1709Arg
XM_011539850.3:c.3971A>G XP_011538152.1:p.Lys1324Arg
XM_017016310.2:c.5126A>G XP_016871799.1:p.Lys1709Arg
XM_017016311.2:c.5126A>G XP_016871800.1:p.Lys1709Arg
XM_017016312.2:c.4112A>G XP_016871801.1:p.Lys1371Arg
NM_001288989.2:c.5036A>G NP_001275918.1:p.Lys1679Arg
NM_016341.4:c.5084A>G MANE Select NP_057425.3:p.Lys1695Arg