Canonical Allele Identifier: CA377642194
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298625G>T , CM000672.2:g.94298625G>T GRCh38
NC_000010.10:g.96058382G>T , CM000672.1:g.96058382G>T GRCh37
NC_000010.9:g.96048372G>T NCBI36
NG_015799.1:g.309637G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4490G>T ENSP00000360426.1:p.Trp1497Leu
ENST00000685253.1:c.*1957G>T ENSP00000509405.1:n.*1957G>T
ENST00000685889.1:n.2149G>T
ENST00000686807.1:n.833G>T
ENST00000686954.1:c.*698G>T ENSP00000508416.1:n.*698G>T
ENST00000688810.1:c.4442G>T ENSP00000509140.1:p.Trp1481Leu
ENST00000689233.1:n.9622G>T
ENST00000690340.1:n.3087G>T
ENST00000692286.1:c.5282G>T ENSP00000509490.1:p.Trp1761Leu
ENST00000692396.1:c.5366G>T ENSP00000508605.1:p.Trp1789Leu
ENST00000371380.8:c.5414G>T MANE Select ENSP00000360431.2:p.Trp1805Leu
ENST00000371385.8:c.4388G>T ENSP00000360438.4:p.Trp1463Leu
ENST00000674738.1:c.3969G>T
ENST00000674827.1:c.3530G>T ENSP00000502523.1:p.Trp1177Leu
ENST00000675218.1:c.4490G>T ENSP00000501910.1:p.Trp1497Leu
ENST00000675487.1:c.*1347G>T ENSP00000502340.1:n.*1347G>T
ENST00000675718.1:c.4683G>T
ENST00000260766.7:c.5414G>T ENSP00000260766.3:p.Trp1805Leu
ENST00000371375.1:c.4490G>T ENSP00000360426.1:p.Trp1497Leu
ENST00000371380.7:c.5414G>T ENSP00000360431.2:p.Trp1805Leu
ENST00000371385.7:c.4490G>T ENSP00000360438.3:p.Trp1497Leu
NM_001165979.2:c.4490G>T NP_001159451.1:p.Trp1497Leu
NM_001288989.1:c.5366G>T NP_001275918.1:p.Trp1789Leu
NM_016341.3:c.5414G>T NP_057425.3:p.Trp1805Leu
XM_006717885.2:c.5456G>T XP_006717948.1:p.Trp1819Leu
XM_006717886.2:c.5456G>T XP_006717949.1:p.Trp1819Leu
XM_006717888.2:c.5453G>T XP_006717951.1:p.Trp1818Leu
XM_006717889.2:c.5408G>T XP_006717952.1:p.Trp1803Leu
XM_006717890.1:c.4532G>T XP_006717953.1:p.Trp1511Leu
XM_011539849.1:c.5456G>T XP_011538151.1:p.Trp1819Leu
XM_011539850.1:c.4301G>T XP_011538152.1:p.Trp1434Leu
XM_006717885.4:c.5456G>T XP_006717948.1:p.Trp1819Leu
XM_006717888.4:c.5453G>T XP_006717951.1:p.Trp1818Leu
XM_006717889.4:c.5408G>T XP_006717952.1:p.Trp1803Leu
XM_006717890.3:c.4532G>T XP_006717953.1:p.Trp1511Leu
XM_011539849.3:c.5456G>T XP_011538151.1:p.Trp1819Leu
XM_011539850.3:c.4301G>T XP_011538152.1:p.Trp1434Leu
XM_017016310.2:c.5456G>T XP_016871799.1:p.Trp1819Leu
XM_017016311.2:c.5456G>T XP_016871800.1:p.Trp1819Leu
XM_017016312.2:c.4442G>T XP_016871801.1:p.Trp1481Leu
NM_001288989.2:c.5366G>T NP_001275918.1:p.Trp1789Leu
NM_016341.4:c.5414G>T MANE Select NP_057425.3:p.Trp1805Leu