Canonical Allele Identifier: CA377641687
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298395T>G , CM000672.2:g.94298395T>G GRCh38
NC_000010.10:g.96058152T>G , CM000672.1:g.96058152T>G GRCh37
NC_000010.9:g.96048142T>G NCBI36
NG_015799.1:g.309407T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4260T>G ENSP00000360426.1:p.Ile1420Met
ENST00000685253.1:c.*1727T>G ENSP00000509405.1:n.*1727T>G
ENST00000685889.1:n.1919T>G
ENST00000686807.1:n.603T>G
ENST00000686954.1:c.*468T>G ENSP00000508416.1:n.*468T>G
ENST00000688810.1:c.4212T>G ENSP00000509140.1:p.Ile1404Met
ENST00000689233.1:n.9392T>G
ENST00000690340.1:n.2857T>G
ENST00000692286.1:c.5052T>G ENSP00000509490.1:p.Ile1684Met
ENST00000692396.1:c.5136T>G ENSP00000508605.1:p.Ile1712Met
ENST00000371380.8:c.5184T>G MANE Select ENSP00000360431.2:p.Ile1728Met
ENST00000371385.8:c.4158T>G ENSP00000360438.4:p.Ile1386Met
ENST00000674738.1:c.3739T>G
ENST00000674827.1:c.3300T>G ENSP00000502523.1:p.Ile1100Met
ENST00000675218.1:c.4260T>G ENSP00000501910.1:p.Ile1420Met
ENST00000675487.1:c.*1117T>G ENSP00000502340.1:n.*1117T>G
ENST00000675718.1:c.4453T>G
ENST00000676102.1:c.4029T>G ENSP00000502811.1:p.Ile1343Met
ENST00000260766.7:c.5184T>G ENSP00000260766.3:p.Ile1728Met
ENST00000371375.1:c.4260T>G ENSP00000360426.1:p.Ile1420Met
ENST00000371380.7:c.5184T>G ENSP00000360431.2:p.Ile1728Met
ENST00000371385.7:c.4260T>G ENSP00000360438.3:p.Ile1420Met
NM_001165979.2:c.4260T>G NP_001159451.1:p.Ile1420Met
NM_001288989.1:c.5136T>G NP_001275918.1:p.Ile1712Met
NM_016341.3:c.5184T>G NP_057425.3:p.Ile1728Met
XM_006717885.2:c.5226T>G XP_006717948.1:p.Ile1742Met
XM_006717886.2:c.5226T>G XP_006717949.1:p.Ile1742Met
XM_006717888.2:c.5223T>G XP_006717951.1:p.Ile1741Met
XM_006717889.2:c.5178T>G XP_006717952.1:p.Ile1726Met
XM_006717890.1:c.4302T>G XP_006717953.1:p.Ile1434Met
XM_011539849.1:c.5226T>G XP_011538151.1:p.Ile1742Met
XM_011539850.1:c.4071T>G XP_011538152.1:p.Ile1357Met
XM_006717885.4:c.5226T>G XP_006717948.1:p.Ile1742Met
XM_006717888.4:c.5223T>G XP_006717951.1:p.Ile1741Met
XM_006717889.4:c.5178T>G XP_006717952.1:p.Ile1726Met
XM_006717890.3:c.4302T>G XP_006717953.1:p.Ile1434Met
XM_011539849.3:c.5226T>G XP_011538151.1:p.Ile1742Met
XM_011539850.3:c.4071T>G XP_011538152.1:p.Ile1357Met
XM_017016310.2:c.5226T>G XP_016871799.1:p.Ile1742Met
XM_017016311.2:c.5226T>G XP_016871800.1:p.Ile1742Met
XM_017016312.2:c.4212T>G XP_016871801.1:p.Ile1404Met
NM_001288989.2:c.5136T>G NP_001275918.1:p.Ile1712Met
NM_016341.4:c.5184T>G MANE Select NP_057425.3:p.Ile1728Met