Canonical Allele Identifier: CA377640616
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94293557A>C , CM000672.2:g.94293557A>C GRCh38
NC_000010.10:g.96053314A>C , CM000672.1:g.96053314A>C GRCh37
NC_000010.9:g.96043304A>C NCBI36
NG_015799.1:g.304569A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4161A>C ENSP00000360426.1:p.Lys1387Asn
ENST00000685253.1:c.*1628A>C ENSP00000509405.1:n.*1628A>C
ENST00000685889.1:n.1820A>C
ENST00000686807.1:n.504A>C
ENST00000686954.1:c.*369A>C ENSP00000508416.1:n.*369A>C
ENST00000688810.1:c.4113A>C ENSP00000509140.1:p.Lys1371Asn
ENST00000689233.1:n.9293A>C
ENST00000690340.1:n.2758A>C
ENST00000692286.1:c.5036-4822A>C ENSP00000509490.1:n.5036-4822A>C
ENST00000692396.1:c.5037A>C ENSP00000508605.1:p.Lys1679Asn
ENST00000371380.8:c.5085A>C MANE Select ENSP00000360431.2:p.Lys1695Asn
ENST00000371385.8:c.4059A>C ENSP00000360438.4:p.Lys1353Asn
ENST00000674738.1:c.3640A>C
ENST00000674827.1:c.3201A>C ENSP00000502523.1:p.Lys1067Asn
ENST00000675218.1:c.4161A>C ENSP00000501910.1:p.Lys1387Asn
ENST00000675487.1:c.*1018A>C ENSP00000502340.1:n.*1018A>C
ENST00000675718.1:c.4354A>C
ENST00000676102.1:c.3930A>C ENSP00000502811.1:p.Lys1310Asn
ENST00000260766.7:c.5085A>C ENSP00000260766.3:p.Lys1695Asn
ENST00000371375.1:c.4161A>C ENSP00000360426.1:p.Lys1387Asn
ENST00000371380.7:c.5085A>C ENSP00000360431.2:p.Lys1695Asn
ENST00000371385.7:c.4161A>C ENSP00000360438.3:p.Lys1387Asn
NM_001165979.2:c.4161A>C NP_001159451.1:p.Lys1387Asn
NM_001288989.1:c.5037A>C NP_001275918.1:p.Lys1679Asn
NM_016341.3:c.5085A>C NP_057425.3:p.Lys1695Asn
XM_006717885.2:c.5127A>C XP_006717948.1:p.Lys1709Asn
XM_006717886.2:c.5127A>C XP_006717949.1:p.Lys1709Asn
XM_006717888.2:c.5124A>C XP_006717951.1:p.Lys1708Asn
XM_006717889.2:c.5079A>C XP_006717952.1:p.Lys1693Asn
XM_006717890.1:c.4203A>C XP_006717953.1:p.Lys1401Asn
XM_011539849.1:c.5127A>C XP_011538151.1:p.Lys1709Asn
XM_011539850.1:c.3972A>C XP_011538152.1:p.Lys1324Asn
XM_006717885.4:c.5127A>C XP_006717948.1:p.Lys1709Asn
XM_006717888.4:c.5124A>C XP_006717951.1:p.Lys1708Asn
XM_006717889.4:c.5079A>C XP_006717952.1:p.Lys1693Asn
XM_006717890.3:c.4203A>C XP_006717953.1:p.Lys1401Asn
XM_011539849.3:c.5127A>C XP_011538151.1:p.Lys1709Asn
XM_011539850.3:c.3972A>C XP_011538152.1:p.Lys1324Asn
XM_017016310.2:c.5127A>C XP_016871799.1:p.Lys1709Asn
XM_017016311.2:c.5127A>C XP_016871800.1:p.Lys1709Asn
XM_017016312.2:c.4113A>C XP_016871801.1:p.Lys1371Asn
NM_001288989.2:c.5037A>C NP_001275918.1:p.Lys1679Asn
NM_016341.4:c.5085A>C MANE Select NP_057425.3:p.Lys1695Asn