Canonical Allele Identifier: CA377641840
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298469A>G , CM000672.2:g.94298469A>G GRCh38
NC_000010.10:g.96058226A>G , CM000672.1:g.96058226A>G GRCh37
NC_000010.9:g.96048216A>G NCBI36
NG_015799.1:g.309481A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5258A>G MANE Select ENSP00000360431.2:p.Lys1753Arg
ENST00000371385.8:c.4232A>G ENSP00000360438.4:p.Lys1411Arg
ENST00000674738.1:n.3813A>G
ENST00000674827.1:n.3374A>G ENSP00000502523.1:p.Lys1125Arg
ENST00000675218.1:n.4334A>G ENSP00000501910.1:p.Lys1445Arg
ENST00000675487.1:c.*1191A>G ENSP00000502340.1:p.=
ENST00000675718.1:n.4527A>G
ENST00000676102.1:c.4103A>G ENSP00000502811.1:p.Lys1368Arg
ENST00000260766.7:c.5258A>G ENSP00000260766.3:p.Lys1753Arg
ENST00000371375.1:n.4334A>G ENSP00000360426.1:p.Lys1445Arg
ENST00000371380.7:c.5258A>G ENSP00000360431.2:p.Lys1753Arg
ENST00000371385.7:c.4334A>G ENSP00000360438.3:p.Lys1445Arg
NM_001165979.2:c.4334A>G NP_001159451.1:p.Lys1445Arg
NM_001288989.1:c.5210A>G NP_001275918.1:p.Lys1737Arg
NM_016341.3:c.5258A>G NP_057425.3:p.Lys1753Arg
XM_006717885.2:c.5300A>G XP_006717948.1:p.Lys1767Arg
XM_006717886.2:c.5300A>G XP_006717949.1:p.Lys1767Arg
XM_006717888.2:c.5297A>G XP_006717951.1:p.Lys1766Arg
XM_006717889.2:c.5252A>G XP_006717952.1:p.Lys1751Arg
XM_006717890.1:c.4376A>G XP_006717953.1:p.Lys1459Arg
XM_011539849.1:c.5300A>G XP_011538151.1:p.Lys1767Arg
XM_011539850.1:c.4145A>G XP_011538152.1:p.Lys1382Arg
XM_006717885.4:c.5300A>G XP_006717948.1:p.Lys1767Arg
XM_006717888.4:c.5297A>G XP_006717951.1:p.Lys1766Arg
XM_006717889.4:c.5252A>G XP_006717952.1:p.Lys1751Arg
XM_006717890.3:c.4376A>G XP_006717953.1:p.Lys1459Arg
XM_011539849.3:c.5300A>G XP_011538151.1:p.Lys1767Arg
XM_011539850.3:c.4145A>G XP_011538152.1:p.Lys1382Arg
XM_017016310.2:c.5300A>G XP_016871799.1:p.Lys1767Arg
XM_017016311.2:c.5300A>G XP_016871800.1:p.Lys1767Arg
XM_017016312.2:c.4286A>G XP_016871801.1:p.Lys1429Arg
NM_001288989.2:c.5210A>G NP_001275918.1:p.Lys1737Arg
NM_016341.4:c.5258A>G MANE Select NP_057425.3:p.Lys1753Arg