Canonical Allele Identifier: CA377642092
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298586C>T , CM000672.2:g.94298586C>T GRCh38
NC_000010.10:g.96058343C>T , CM000672.1:g.96058343C>T GRCh37
NC_000010.9:g.96048333C>T NCBI36
NG_015799.1:g.309598C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4451C>T ENSP00000360426.1:p.Thr1484Ile
ENST00000685253.1:c.*1918C>T ENSP00000509405.1:n.*1918C>T
ENST00000685889.1:n.2110C>T
ENST00000686807.1:n.794C>T
ENST00000686954.1:c.*659C>T ENSP00000508416.1:n.*659C>T
ENST00000688810.1:c.4403C>T ENSP00000509140.1:p.Thr1468Ile
ENST00000689233.1:n.9583C>T
ENST00000690340.1:n.3048C>T
ENST00000692286.1:c.5243C>T ENSP00000509490.1:p.Thr1748Ile
ENST00000692396.1:c.5327C>T ENSP00000508605.1:p.Thr1776Ile
ENST00000371380.8:c.5375C>T MANE Select ENSP00000360431.2:p.Thr1792Ile
ENST00000371385.8:c.4349C>T ENSP00000360438.4:p.Thr1450Ile
ENST00000674738.1:c.3930C>T
ENST00000674827.1:c.3491C>T ENSP00000502523.1:p.Thr1164Ile
ENST00000675218.1:c.4451C>T ENSP00000501910.1:p.Thr1484Ile
ENST00000675487.1:c.*1308C>T ENSP00000502340.1:n.*1308C>T
ENST00000675718.1:c.4644C>T
ENST00000260766.7:c.5375C>T ENSP00000260766.3:p.Thr1792Ile
ENST00000371375.1:c.4451C>T ENSP00000360426.1:p.Thr1484Ile
ENST00000371380.7:c.5375C>T ENSP00000360431.2:p.Thr1792Ile
ENST00000371385.7:c.4451C>T ENSP00000360438.3:p.Thr1484Ile
NM_001165979.2:c.4451C>T NP_001159451.1:p.Thr1484Ile
NM_001288989.1:c.5327C>T NP_001275918.1:p.Thr1776Ile
NM_016341.3:c.5375C>T NP_057425.3:p.Thr1792Ile
XM_006717885.2:c.5417C>T XP_006717948.1:p.Thr1806Ile
XM_006717886.2:c.5417C>T XP_006717949.1:p.Thr1806Ile
XM_006717888.2:c.5414C>T XP_006717951.1:p.Thr1805Ile
XM_006717889.2:c.5369C>T XP_006717952.1:p.Thr1790Ile
XM_006717890.1:c.4493C>T XP_006717953.1:p.Thr1498Ile
XM_011539849.1:c.5417C>T XP_011538151.1:p.Thr1806Ile
XM_011539850.1:c.4262C>T XP_011538152.1:p.Thr1421Ile
XM_006717885.4:c.5417C>T XP_006717948.1:p.Thr1806Ile
XM_006717888.4:c.5414C>T XP_006717951.1:p.Thr1805Ile
XM_006717889.4:c.5369C>T XP_006717952.1:p.Thr1790Ile
XM_006717890.3:c.4493C>T XP_006717953.1:p.Thr1498Ile
XM_011539849.3:c.5417C>T XP_011538151.1:p.Thr1806Ile
XM_011539850.3:c.4262C>T XP_011538152.1:p.Thr1421Ile
XM_017016310.2:c.5417C>T XP_016871799.1:p.Thr1806Ile
XM_017016311.2:c.5417C>T XP_016871800.1:p.Thr1806Ile
XM_017016312.2:c.4403C>T XP_016871801.1:p.Thr1468Ile
NM_001288989.2:c.5327C>T NP_001275918.1:p.Thr1776Ile
NM_016341.4:c.5375C>T MANE Select NP_057425.3:p.Thr1792Ile