Canonical Allele Identifier: CA377641662
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298384T>C , CM000672.2:g.94298384T>C GRCh38
NC_000010.10:g.96058141T>C , CM000672.1:g.96058141T>C GRCh37
NC_000010.9:g.96048131T>C NCBI36
NG_015799.1:g.309396T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4249T>C ENSP00000360426.1:p.Cys1417Arg
ENST00000685253.1:c.*1716T>C ENSP00000509405.1:n.*1716T>C
ENST00000685889.1:n.1908T>C
ENST00000686807.1:n.592T>C
ENST00000686954.1:c.*457T>C ENSP00000508416.1:n.*457T>C
ENST00000688810.1:c.4201T>C ENSP00000509140.1:p.Cys1401Arg
ENST00000689233.1:n.9381T>C
ENST00000690340.1:n.2846T>C
ENST00000692286.1:c.5041T>C ENSP00000509490.1:p.Cys1681Arg
ENST00000692396.1:c.5125T>C ENSP00000508605.1:p.Cys1709Arg
ENST00000371380.8:c.5173T>C MANE Select ENSP00000360431.2:p.Cys1725Arg
ENST00000371385.8:c.4147T>C ENSP00000360438.4:p.Cys1383Arg
ENST00000674738.1:c.3728T>C
ENST00000674827.1:c.3289T>C ENSP00000502523.1:p.Cys1097Arg
ENST00000675218.1:c.4249T>C ENSP00000501910.1:p.Cys1417Arg
ENST00000675487.1:c.*1106T>C ENSP00000502340.1:n.*1106T>C
ENST00000675718.1:c.4442T>C
ENST00000676102.1:c.4018T>C ENSP00000502811.1:p.Cys1340Arg
ENST00000260766.7:c.5173T>C ENSP00000260766.3:p.Cys1725Arg
ENST00000371375.1:c.4249T>C ENSP00000360426.1:p.Cys1417Arg
ENST00000371380.7:c.5173T>C ENSP00000360431.2:p.Cys1725Arg
ENST00000371385.7:c.4249T>C ENSP00000360438.3:p.Cys1417Arg
NM_001165979.2:c.4249T>C NP_001159451.1:p.Cys1417Arg
NM_001288989.1:c.5125T>C NP_001275918.1:p.Cys1709Arg
NM_016341.3:c.5173T>C NP_057425.3:p.Cys1725Arg
XM_006717885.2:c.5215T>C XP_006717948.1:p.Cys1739Arg
XM_006717886.2:c.5215T>C XP_006717949.1:p.Cys1739Arg
XM_006717888.2:c.5212T>C XP_006717951.1:p.Cys1738Arg
XM_006717889.2:c.5167T>C XP_006717952.1:p.Cys1723Arg
XM_006717890.1:c.4291T>C XP_006717953.1:p.Cys1431Arg
XM_011539849.1:c.5215T>C XP_011538151.1:p.Cys1739Arg
XM_011539850.1:c.4060T>C XP_011538152.1:p.Cys1354Arg
XM_006717885.4:c.5215T>C XP_006717948.1:p.Cys1739Arg
XM_006717888.4:c.5212T>C XP_006717951.1:p.Cys1738Arg
XM_006717889.4:c.5167T>C XP_006717952.1:p.Cys1723Arg
XM_006717890.3:c.4291T>C XP_006717953.1:p.Cys1431Arg
XM_011539849.3:c.5215T>C XP_011538151.1:p.Cys1739Arg
XM_011539850.3:c.4060T>C XP_011538152.1:p.Cys1354Arg
XM_017016310.2:c.5215T>C XP_016871799.1:p.Cys1739Arg
XM_017016311.2:c.5215T>C XP_016871800.1:p.Cys1739Arg
XM_017016312.2:c.4201T>C XP_016871801.1:p.Cys1401Arg
NM_001288989.2:c.5125T>C NP_001275918.1:p.Cys1709Arg
NM_016341.4:c.5173T>C MANE Select NP_057425.3:p.Cys1725Arg