Canonical Allele Identifier: CA377640807
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94293598G>T , CM000672.2:g.94293598G>T GRCh38
NC_000010.10:g.96053355G>T , CM000672.1:g.96053355G>T GRCh37
NC_000010.9:g.96043345G>T NCBI36
NG_015799.1:g.304610G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4202G>T ENSP00000360426.1:p.Ser1401Ile
ENST00000685253.1:c.*1669G>T ENSP00000509405.1:n.*1669G>T
ENST00000685889.1:n.1861G>T
ENST00000686807.1:n.545G>T
ENST00000686954.1:c.*410G>T ENSP00000508416.1:n.*410G>T
ENST00000688810.1:c.4154G>T ENSP00000509140.1:p.Ser1385Ile
ENST00000689233.1:n.9334G>T
ENST00000690340.1:n.2799G>T
ENST00000692286.1:c.5036-4781G>T ENSP00000509490.1:n.5036-4781G>T
ENST00000692396.1:c.5078G>T ENSP00000508605.1:p.Ser1693Ile
ENST00000371380.8:c.5126G>T MANE Select ENSP00000360431.2:p.Ser1709Ile
ENST00000371385.8:c.4100G>T ENSP00000360438.4:p.Ser1367Ile
ENST00000674738.1:c.3681G>T
ENST00000674827.1:c.3242G>T ENSP00000502523.1:p.Ser1081Ile
ENST00000675218.1:c.4202G>T ENSP00000501910.1:p.Ser1401Ile
ENST00000675487.1:c.*1059G>T ENSP00000502340.1:n.*1059G>T
ENST00000675718.1:c.4395G>T
ENST00000676102.1:c.3971G>T ENSP00000502811.1:p.Ser1324Ile
ENST00000260766.7:c.5126G>T ENSP00000260766.3:p.Ser1709Ile
ENST00000371375.1:c.4202G>T ENSP00000360426.1:p.Ser1401Ile
ENST00000371380.7:c.5126G>T ENSP00000360431.2:p.Ser1709Ile
ENST00000371385.7:c.4202G>T ENSP00000360438.3:p.Ser1401Ile
NM_001165979.2:c.4202G>T NP_001159451.1:p.Ser1401Ile
NM_001288989.1:c.5078G>T NP_001275918.1:p.Ser1693Ile
NM_016341.3:c.5126G>T NP_057425.3:p.Ser1709Ile
XM_006717885.2:c.5168G>T XP_006717948.1:p.Ser1723Ile
XM_006717886.2:c.5168G>T XP_006717949.1:p.Ser1723Ile
XM_006717888.2:c.5165G>T XP_006717951.1:p.Ser1722Ile
XM_006717889.2:c.5120G>T XP_006717952.1:p.Ser1707Ile
XM_006717890.1:c.4244G>T XP_006717953.1:p.Ser1415Ile
XM_011539849.1:c.5168G>T XP_011538151.1:p.Ser1723Ile
XM_011539850.1:c.4013G>T XP_011538152.1:p.Ser1338Ile
XM_006717885.4:c.5168G>T XP_006717948.1:p.Ser1723Ile
XM_006717888.4:c.5165G>T XP_006717951.1:p.Ser1722Ile
XM_006717889.4:c.5120G>T XP_006717952.1:p.Ser1707Ile
XM_006717890.3:c.4244G>T XP_006717953.1:p.Ser1415Ile
XM_011539849.3:c.5168G>T XP_011538151.1:p.Ser1723Ile
XM_011539850.3:c.4013G>T XP_011538152.1:p.Ser1338Ile
XM_017016310.2:c.5168G>T XP_016871799.1:p.Ser1723Ile
XM_017016311.2:c.5168G>T XP_016871800.1:p.Ser1723Ile
XM_017016312.2:c.4154G>T XP_016871801.1:p.Ser1385Ile
NM_001288989.2:c.5078G>T NP_001275918.1:p.Ser1693Ile
NM_016341.4:c.5126G>T MANE Select NP_057425.3:p.Ser1709Ile