Canonical Allele Identifier: CA377642251
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298637T>C , CM000672.2:g.94298637T>C GRCh38
NC_000010.10:g.96058394T>C , CM000672.1:g.96058394T>C GRCh37
NC_000010.9:g.96048384T>C NCBI36
NG_015799.1:g.309649T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4502T>C ENSP00000360426.1:p.Ile1501Thr
ENST00000685253.1:c.*1969T>C ENSP00000509405.1:n.*1969T>C
ENST00000685889.1:n.2161T>C
ENST00000686807.1:n.845T>C
ENST00000686954.1:c.*710T>C ENSP00000508416.1:n.*710T>C
ENST00000688810.1:c.4454T>C ENSP00000509140.1:p.Ile1485Thr
ENST00000689233.1:n.9634T>C
ENST00000690340.1:n.3099T>C
ENST00000692286.1:c.5294T>C ENSP00000509490.1:p.Ile1765Thr
ENST00000692396.1:c.5378T>C ENSP00000508605.1:p.Ile1793Thr
ENST00000371380.8:c.5426T>C MANE Select ENSP00000360431.2:p.Ile1809Thr
ENST00000371385.8:c.4400T>C ENSP00000360438.4:p.Ile1467Thr
ENST00000674738.1:c.3981T>C
ENST00000674827.1:c.3542T>C ENSP00000502523.1:p.Ile1181Thr
ENST00000675218.1:c.4502T>C ENSP00000501910.1:p.Ile1501Thr
ENST00000675487.1:c.*1359T>C ENSP00000502340.1:n.*1359T>C
ENST00000675718.1:c.4695T>C
ENST00000260766.7:c.5426T>C ENSP00000260766.3:p.Ile1809Thr
ENST00000371375.1:c.4502T>C ENSP00000360426.1:p.Ile1501Thr
ENST00000371380.7:c.5426T>C ENSP00000360431.2:p.Ile1809Thr
ENST00000371385.7:c.4502T>C ENSP00000360438.3:p.Ile1501Thr
NM_001165979.2:c.4502T>C NP_001159451.1:p.Ile1501Thr
NM_001288989.1:c.5378T>C NP_001275918.1:p.Ile1793Thr
NM_016341.3:c.5426T>C NP_057425.3:p.Ile1809Thr
XM_006717885.2:c.5468T>C XP_006717948.1:p.Ile1823Thr
XM_006717886.2:c.5468T>C XP_006717949.1:p.Ile1823Thr
XM_006717888.2:c.5465T>C XP_006717951.1:p.Ile1822Thr
XM_006717889.2:c.5420T>C XP_006717952.1:p.Ile1807Thr
XM_006717890.1:c.4544T>C XP_006717953.1:p.Ile1515Thr
XM_011539849.1:c.5468T>C XP_011538151.1:p.Ile1823Thr
XM_011539850.1:c.4313T>C XP_011538152.1:p.Ile1438Thr
XM_006717885.4:c.5468T>C XP_006717948.1:p.Ile1823Thr
XM_006717888.4:c.5465T>C XP_006717951.1:p.Ile1822Thr
XM_006717889.4:c.5420T>C XP_006717952.1:p.Ile1807Thr
XM_006717890.3:c.4544T>C XP_006717953.1:p.Ile1515Thr
XM_011539849.3:c.5468T>C XP_011538151.1:p.Ile1823Thr
XM_011539850.3:c.4313T>C XP_011538152.1:p.Ile1438Thr
XM_017016310.2:c.5468T>C XP_016871799.1:p.Ile1823Thr
XM_017016311.2:c.5468T>C XP_016871800.1:p.Ile1823Thr
XM_017016312.2:c.4454T>C XP_016871801.1:p.Ile1485Thr
NM_001288989.2:c.5378T>C NP_001275918.1:p.Ile1793Thr
NM_016341.4:c.5426T>C MANE Select NP_057425.3:p.Ile1809Thr