Canonical Allele Identifier: CA3181447711
Community Standard Title: NM_016341.4(PLCE1):c.5270T= (p.Ile1757=)
Gene: PLCE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298481T= , CM000672.2:g.94298481T= GRCh38
NC_000010.10:g.96058238T= , CM000672.1:g.96058238T= GRCh37
NC_000010.9:g.96048228T= NCBI36
NG_015799.1:g.309493T=

Transcript Alleles

HGVS Amino-acid Change
NM_016341.4:c.5270T= MANE Select NP_057425.3:p.Ile1757=
ENST00000371380.8:c.5270T= MANE Select ENSP00000360431.2:p.Ile1757=
NM_001165979.2:c.4346T= NP_001159451.1:p.Ile1449=
NM_001288989.1:c.5222T= NP_001275918.1:p.Ile1741=
NM_001288989.2:c.5222T= NP_001275918.1:p.Ile1741=
NM_016341.3:c.5270T= NP_057425.3:p.Ile1757=
ENST00000260766.7:c.5270T= ENSP00000260766.3:p.Ile1757=
ENST00000371375.1:c.4346T= ENSP00000360426.1:p.Ile1449=
ENST00000371375.2:c.4346T= ENSP00000360426.1:p.Ile1449=
ENST00000371380.7:c.5270T= ENSP00000360431.2:p.Ile1757=
ENST00000371385.7:c.4346T= ENSP00000360438.3:p.Ile1449=
ENST00000371385.8:c.4244T= ENSP00000360438.4:p.Ile1415=
ENST00000674738.1:c.3825T=
ENST00000674827.1:c.3386T= ENSP00000502523.1:p.Ile1129=
ENST00000675218.1:c.4346T= ENSP00000501910.1:p.Ile1449=
ENST00000675487.1:c.*1203T= ENSP00000502340.1:n.*1203T=
ENST00000675718.1:c.4539T=
ENST00000685253.1:c.*1813T= ENSP00000509405.1:n.*1813T=
ENST00000685889.1:n.2005T=
ENST00000686807.1:n.689T=
ENST00000686954.1:c.*554T= ENSP00000508416.1:n.*554T=
ENST00000688810.1:c.4298T= ENSP00000509140.1:p.Ile1433=
ENST00000689233.1:n.9478T=
ENST00000690340.1:n.2943T=
ENST00000692286.1:c.5138T= ENSP00000509490.1:p.Ile1713=
ENST00000692396.1:c.5222T= ENSP00000508605.1:p.Ile1741=
XM_006717885.2:c.5312T= XP_006717948.1:p.Ile1771=
XM_006717885.4:c.5312T= XP_006717948.1:p.Ile1771=
XM_006717886.2:c.5312T= XP_006717949.1:p.Ile1771=
XM_006717888.2:c.5309T= XP_006717951.1:p.Ile1770=
XM_006717888.4:c.5309T= XP_006717951.1:p.Ile1770=
XM_006717889.2:c.5264T= XP_006717952.1:p.Ile1755=
XM_006717889.4:c.5264T= XP_006717952.1:p.Ile1755=
XM_006717890.1:c.4388T= XP_006717953.1:p.Ile1463=
XM_006717890.3:c.4388T= XP_006717953.1:p.Ile1463=
XM_011539849.1:c.5312T= XP_011538151.1:p.Ile1771=
XM_011539849.3:c.5312T= XP_011538151.1:p.Ile1771=
XM_011539850.1:c.4157T= XP_011538152.1:p.Ile1386=
XM_011539850.3:c.4157T= XP_011538152.1:p.Ile1386=
XM_017016310.2:c.5312T= XP_016871799.1:p.Ile1771=
XM_017016311.2:c.5312T= XP_016871800.1:p.Ile1771=
XM_017016312.2:c.4298T= XP_016871801.1:p.Ile1433=