Canonical Allele Identifier: CA377641816
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298458T>G , CM000672.2:g.94298458T>G GRCh38
NC_000010.10:g.96058215T>G , CM000672.1:g.96058215T>G GRCh37
NC_000010.9:g.96048205T>G NCBI36
NG_015799.1:g.309470T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5247T>G MANE Select ENSP00000360431.2:p.Ile1749Met
ENST00000371385.8:c.4221T>G ENSP00000360438.4:p.Ile1407Met
ENST00000674738.1:n.3802T>G
ENST00000674827.1:n.3363T>G ENSP00000502523.1:p.Ile1121Met
ENST00000675218.1:n.4323T>G ENSP00000501910.1:p.Ile1441Met
ENST00000675487.1:c.*1180T>G ENSP00000502340.1:p.=
ENST00000675718.1:n.4516T>G
ENST00000676102.1:c.4092T>G ENSP00000502811.1:p.Ile1364Met
ENST00000260766.7:c.5247T>G ENSP00000260766.3:p.Ile1749Met
ENST00000371375.1:n.4323T>G ENSP00000360426.1:p.Ile1441Met
ENST00000371380.7:c.5247T>G ENSP00000360431.2:p.Ile1749Met
ENST00000371385.7:c.4323T>G ENSP00000360438.3:p.Ile1441Met
NM_001165979.2:c.4323T>G NP_001159451.1:p.Ile1441Met
NM_001288989.1:c.5199T>G NP_001275918.1:p.Ile1733Met
NM_016341.3:c.5247T>G NP_057425.3:p.Ile1749Met
XM_006717885.2:c.5289T>G XP_006717948.1:p.Ile1763Met
XM_006717886.2:c.5289T>G XP_006717949.1:p.Ile1763Met
XM_006717888.2:c.5286T>G XP_006717951.1:p.Ile1762Met
XM_006717889.2:c.5241T>G XP_006717952.1:p.Ile1747Met
XM_006717890.1:c.4365T>G XP_006717953.1:p.Ile1455Met
XM_011539849.1:c.5289T>G XP_011538151.1:p.Ile1763Met
XM_011539850.1:c.4134T>G XP_011538152.1:p.Ile1378Met
XM_006717885.4:c.5289T>G XP_006717948.1:p.Ile1763Met
XM_006717888.4:c.5286T>G XP_006717951.1:p.Ile1762Met
XM_006717889.4:c.5241T>G XP_006717952.1:p.Ile1747Met
XM_006717890.3:c.4365T>G XP_006717953.1:p.Ile1455Met
XM_011539849.3:c.5289T>G XP_011538151.1:p.Ile1763Met
XM_011539850.3:c.4134T>G XP_011538152.1:p.Ile1378Met
XM_017016310.2:c.5289T>G XP_016871799.1:p.Ile1763Met
XM_017016311.2:c.5289T>G XP_016871800.1:p.Ile1763Met
XM_017016312.2:c.4275T>G XP_016871801.1:p.Ile1425Met
NM_001288989.2:c.5199T>G NP_001275918.1:p.Ile1733Met
NM_016341.4:c.5247T>G MANE Select NP_057425.3:p.Ile1749Met