Canonical Allele Identifier: CA377641873
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298482C>G , CM000672.2:g.94298482C>G GRCh38
NC_000010.10:g.96058239C>G , CM000672.1:g.96058239C>G GRCh37
NC_000010.9:g.96048229C>G NCBI36
NG_015799.1:g.309494C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4347C>G ENSP00000360426.1:p.Ile1449Met
ENST00000685253.1:c.*1814C>G ENSP00000509405.1:n.*1814C>G
ENST00000685889.1:n.2006C>G
ENST00000686807.1:n.690C>G
ENST00000686954.1:c.*555C>G ENSP00000508416.1:n.*555C>G
ENST00000688810.1:c.4299C>G ENSP00000509140.1:p.Ile1433Met
ENST00000689233.1:n.9479C>G
ENST00000690340.1:n.2944C>G
ENST00000692286.1:c.5139C>G ENSP00000509490.1:p.Ile1713Met
ENST00000692396.1:c.5223C>G ENSP00000508605.1:p.Ile1741Met
ENST00000371380.8:c.5271C>G MANE Select ENSP00000360431.2:p.Ile1757Met
ENST00000371385.8:c.4245C>G ENSP00000360438.4:p.Ile1415Met
ENST00000674738.1:c.3826C>G
ENST00000674827.1:c.3387C>G ENSP00000502523.1:p.Ile1129Met
ENST00000675218.1:c.4347C>G ENSP00000501910.1:p.Ile1449Met
ENST00000675487.1:c.*1204C>G ENSP00000502340.1:n.*1204C>G
ENST00000675718.1:c.4540C>G
ENST00000260766.7:c.5271C>G ENSP00000260766.3:p.Ile1757Met
ENST00000371375.1:c.4347C>G ENSP00000360426.1:p.Ile1449Met
ENST00000371380.7:c.5271C>G ENSP00000360431.2:p.Ile1757Met
ENST00000371385.7:c.4347C>G ENSP00000360438.3:p.Ile1449Met
NM_001165979.2:c.4347C>G NP_001159451.1:p.Ile1449Met
NM_001288989.1:c.5223C>G NP_001275918.1:p.Ile1741Met
NM_016341.3:c.5271C>G NP_057425.3:p.Ile1757Met
XM_006717885.2:c.5313C>G XP_006717948.1:p.Ile1771Met
XM_006717886.2:c.5313C>G XP_006717949.1:p.Ile1771Met
XM_006717888.2:c.5310C>G XP_006717951.1:p.Ile1770Met
XM_006717889.2:c.5265C>G XP_006717952.1:p.Ile1755Met
XM_006717890.1:c.4389C>G XP_006717953.1:p.Ile1463Met
XM_011539849.1:c.5313C>G XP_011538151.1:p.Ile1771Met
XM_011539850.1:c.4158C>G XP_011538152.1:p.Ile1386Met
XM_006717885.4:c.5313C>G XP_006717948.1:p.Ile1771Met
XM_006717888.4:c.5310C>G XP_006717951.1:p.Ile1770Met
XM_006717889.4:c.5265C>G XP_006717952.1:p.Ile1755Met
XM_006717890.3:c.4389C>G XP_006717953.1:p.Ile1463Met
XM_011539849.3:c.5313C>G XP_011538151.1:p.Ile1771Met
XM_011539850.3:c.4158C>G XP_011538152.1:p.Ile1386Met
XM_017016310.2:c.5313C>G XP_016871799.1:p.Ile1771Met
XM_017016311.2:c.5313C>G XP_016871800.1:p.Ile1771Met
XM_017016312.2:c.4299C>G XP_016871801.1:p.Ile1433Met
NM_001288989.2:c.5223C>G NP_001275918.1:p.Ile1741Met
NM_016341.4:c.5271C>G MANE Select NP_057425.3:p.Ile1757Met