Canonical Allele Identifier: CA377642378
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298666G>C , CM000672.2:g.94298666G>C GRCh38
NC_000010.10:g.96058423G>C , CM000672.1:g.96058423G>C GRCh37
NC_000010.9:g.96048413G>C NCBI36
NG_015799.1:g.309678G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4531G>C ENSP00000360426.1:p.Asp1511His
ENST00000685253.1:c.*1998G>C ENSP00000509405.1:n.*1998G>C
ENST00000685889.1:n.2190G>C
ENST00000686807.1:n.874G>C
ENST00000686954.1:c.*739G>C ENSP00000508416.1:n.*739G>C
ENST00000688810.1:c.4483G>C ENSP00000509140.1:p.Asp1495His
ENST00000689233.1:n.9663G>C
ENST00000690340.1:n.3128G>C
ENST00000692286.1:c.5323G>C ENSP00000509490.1:p.Asp1775His
ENST00000692396.1:c.5407G>C ENSP00000508605.1:p.Asp1803His
ENST00000371380.8:c.5455G>C MANE Select ENSP00000360431.2:p.Asp1819His
ENST00000371385.8:c.4429G>C ENSP00000360438.4:p.Asp1477His
ENST00000674738.1:c.4010G>C
ENST00000674827.1:c.3571G>C ENSP00000502523.1:p.Asp1191His
ENST00000675218.1:c.4531G>C ENSP00000501910.1:p.Asp1511His
ENST00000675487.1:c.*1388G>C ENSP00000502340.1:n.*1388G>C
ENST00000675718.1:c.4724G>C
ENST00000260766.7:c.5455G>C ENSP00000260766.3:p.Asp1819His
ENST00000371375.1:c.4531G>C ENSP00000360426.1:p.Asp1511His
ENST00000371380.7:c.5455G>C ENSP00000360431.2:p.Asp1819His
ENST00000371385.7:c.4531G>C ENSP00000360438.3:p.Asp1511His
NM_001165979.2:c.4531G>C NP_001159451.1:p.Asp1511His
NM_001288989.1:c.5407G>C NP_001275918.1:p.Asp1803His
NM_016341.3:c.5455G>C NP_057425.3:p.Asp1819His
XM_006717885.2:c.5497G>C XP_006717948.1:p.Asp1833His
XM_006717886.2:c.5497G>C XP_006717949.1:p.Asp1833His
XM_006717888.2:c.5494G>C XP_006717951.1:p.Asp1832His
XM_006717889.2:c.5449G>C XP_006717952.1:p.Asp1817His
XM_006717890.1:c.4573G>C XP_006717953.1:p.Asp1525His
XM_011539849.1:c.5497G>C XP_011538151.1:p.Asp1833His
XM_011539850.1:c.4342G>C XP_011538152.1:p.Asp1448His
XM_006717885.4:c.5497G>C XP_006717948.1:p.Asp1833His
XM_006717888.4:c.5494G>C XP_006717951.1:p.Asp1832His
XM_006717889.4:c.5449G>C XP_006717952.1:p.Asp1817His
XM_006717890.3:c.4573G>C XP_006717953.1:p.Asp1525His
XM_011539849.3:c.5497G>C XP_011538151.1:p.Asp1833His
XM_011539850.3:c.4342G>C XP_011538152.1:p.Asp1448His
XM_017016310.2:c.5497G>C XP_016871799.1:p.Asp1833His
XM_017016311.2:c.5497G>C XP_016871800.1:p.Asp1833His
XM_017016312.2:c.4483G>C XP_016871801.1:p.Asp1495His
NM_001288989.2:c.5407G>C NP_001275918.1:p.Asp1803His
NM_016341.4:c.5455G>C MANE Select NP_057425.3:p.Asp1819His