Canonical Allele Identifier: CA377640594
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs2133454288

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94293553G>A , CM000672.2:g.94293553G>A GRCh38
NC_000010.10:g.96053310G>A , CM000672.1:g.96053310G>A GRCh37
NC_000010.9:g.96043300G>A NCBI36
NG_015799.1:g.304565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4157G>A ENSP00000360426.1:p.Arg1386Lys
ENST00000685253.1:c.*1624G>A ENSP00000509405.1:n.*1624G>A
ENST00000685889.1:n.1816G>A
ENST00000686807.1:n.500G>A
ENST00000686954.1:c.*365G>A ENSP00000508416.1:n.*365G>A
ENST00000688810.1:c.4109G>A ENSP00000509140.1:p.Arg1370Lys
ENST00000689233.1:n.9289G>A
ENST00000690340.1:n.2754G>A
ENST00000692286.1:c.5036-4826G>A ENSP00000509490.1:n.5036-4826G>A
ENST00000692396.1:c.5033G>A ENSP00000508605.1:p.Arg1678Lys
ENST00000371380.8:c.5081G>A MANE Select ENSP00000360431.2:p.Arg1694Lys
ENST00000371385.8:c.4055G>A ENSP00000360438.4:p.Arg1352Lys
ENST00000674738.1:c.3636G>A
ENST00000674827.1:c.3197G>A ENSP00000502523.1:p.Arg1066Lys
ENST00000675218.1:c.4157G>A ENSP00000501910.1:p.Arg1386Lys
ENST00000675487.1:c.*1014G>A ENSP00000502340.1:n.*1014G>A
ENST00000675718.1:c.4350G>A
ENST00000676102.1:c.3926G>A ENSP00000502811.1:p.Arg1309Lys
ENST00000260766.7:c.5081G>A ENSP00000260766.3:p.Arg1694Lys
ENST00000371375.1:c.4157G>A ENSP00000360426.1:p.Arg1386Lys
ENST00000371380.7:c.5081G>A ENSP00000360431.2:p.Arg1694Lys
ENST00000371385.7:c.4157G>A ENSP00000360438.3:p.Arg1386Lys
NM_001165979.2:c.4157G>A NP_001159451.1:p.Arg1386Lys
NM_001288989.1:c.5033G>A NP_001275918.1:p.Arg1678Lys
NM_016341.3:c.5081G>A NP_057425.3:p.Arg1694Lys
XM_006717885.2:c.5123G>A XP_006717948.1:p.Arg1708Lys
XM_006717886.2:c.5123G>A XP_006717949.1:p.Arg1708Lys
XM_006717888.2:c.5120G>A XP_006717951.1:p.Arg1707Lys
XM_006717889.2:c.5075G>A XP_006717952.1:p.Arg1692Lys
XM_006717890.1:c.4199G>A XP_006717953.1:p.Arg1400Lys
XM_011539849.1:c.5123G>A XP_011538151.1:p.Arg1708Lys
XM_011539850.1:c.3968G>A XP_011538152.1:p.Arg1323Lys
XM_006717885.4:c.5123G>A XP_006717948.1:p.Arg1708Lys
XM_006717888.4:c.5120G>A XP_006717951.1:p.Arg1707Lys
XM_006717889.4:c.5075G>A XP_006717952.1:p.Arg1692Lys
XM_006717890.3:c.4199G>A XP_006717953.1:p.Arg1400Lys
XM_011539849.3:c.5123G>A XP_011538151.1:p.Arg1708Lys
XM_011539850.3:c.3968G>A XP_011538152.1:p.Arg1323Lys
XM_017016310.2:c.5123G>A XP_016871799.1:p.Arg1708Lys
XM_017016311.2:c.5123G>A XP_016871800.1:p.Arg1708Lys
XM_017016312.2:c.4109G>A XP_016871801.1:p.Arg1370Lys
NM_001288989.2:c.5033G>A NP_001275918.1:p.Arg1678Lys
NM_016341.4:c.5081G>A MANE Select NP_057425.3:p.Arg1694Lys