Canonical Allele Identifier: CA377642166
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298619T>C , CM000672.2:g.94298619T>C GRCh38
NC_000010.10:g.96058376T>C , CM000672.1:g.96058376T>C GRCh37
NC_000010.9:g.96048366T>C NCBI36
NG_015799.1:g.309631T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4484T>C ENSP00000360426.1:p.Met1495Thr
ENST00000685253.1:c.*1951T>C ENSP00000509405.1:n.*1951T>C
ENST00000685889.1:n.2143T>C
ENST00000686807.1:n.827T>C
ENST00000686954.1:c.*692T>C ENSP00000508416.1:n.*692T>C
ENST00000688810.1:c.4436T>C ENSP00000509140.1:p.Met1479Thr
ENST00000689233.1:n.9616T>C
ENST00000690340.1:n.3081T>C
ENST00000692286.1:c.5276T>C ENSP00000509490.1:p.Met1759Thr
ENST00000692396.1:c.5360T>C ENSP00000508605.1:p.Met1787Thr
ENST00000371380.8:c.5408T>C MANE Select ENSP00000360431.2:p.Met1803Thr
ENST00000371385.8:c.4382T>C ENSP00000360438.4:p.Met1461Thr
ENST00000674738.1:c.3963T>C
ENST00000674827.1:c.3524T>C ENSP00000502523.1:p.Met1175Thr
ENST00000675218.1:c.4484T>C ENSP00000501910.1:p.Met1495Thr
ENST00000675487.1:c.*1341T>C ENSP00000502340.1:n.*1341T>C
ENST00000675718.1:c.4677T>C
ENST00000260766.7:c.5408T>C ENSP00000260766.3:p.Met1803Thr
ENST00000371375.1:c.4484T>C ENSP00000360426.1:p.Met1495Thr
ENST00000371380.7:c.5408T>C ENSP00000360431.2:p.Met1803Thr
ENST00000371385.7:c.4484T>C ENSP00000360438.3:p.Met1495Thr
NM_001165979.2:c.4484T>C NP_001159451.1:p.Met1495Thr
NM_001288989.1:c.5360T>C NP_001275918.1:p.Met1787Thr
NM_016341.3:c.5408T>C NP_057425.3:p.Met1803Thr
XM_006717885.2:c.5450T>C XP_006717948.1:p.Met1817Thr
XM_006717886.2:c.5450T>C XP_006717949.1:p.Met1817Thr
XM_006717888.2:c.5447T>C XP_006717951.1:p.Met1816Thr
XM_006717889.2:c.5402T>C XP_006717952.1:p.Met1801Thr
XM_006717890.1:c.4526T>C XP_006717953.1:p.Met1509Thr
XM_011539849.1:c.5450T>C XP_011538151.1:p.Met1817Thr
XM_011539850.1:c.4295T>C XP_011538152.1:p.Met1432Thr
XM_006717885.4:c.5450T>C XP_006717948.1:p.Met1817Thr
XM_006717888.4:c.5447T>C XP_006717951.1:p.Met1816Thr
XM_006717889.4:c.5402T>C XP_006717952.1:p.Met1801Thr
XM_006717890.3:c.4526T>C XP_006717953.1:p.Met1509Thr
XM_011539849.3:c.5450T>C XP_011538151.1:p.Met1817Thr
XM_011539850.3:c.4295T>C XP_011538152.1:p.Met1432Thr
XM_017016310.2:c.5450T>C XP_016871799.1:p.Met1817Thr
XM_017016311.2:c.5450T>C XP_016871800.1:p.Met1817Thr
XM_017016312.2:c.4436T>C XP_016871801.1:p.Met1479Thr
NM_001288989.2:c.5360T>C NP_001275918.1:p.Met1787Thr
NM_016341.4:c.5408T>C MANE Select NP_057425.3:p.Met1803Thr