Canonical Allele Identifier: CA377641841
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5258A>T MANE Select ENSP00000360431.2:p.Lys1753Ile
ENST00000371385.8:c.4232A>T ENSP00000360438.4:p.Lys1411Ile
ENST00000674738.1:n.3813A>T
ENST00000674827.1:n.3374A>T ENSP00000502523.1:p.Lys1125Ile
ENST00000675218.1:n.4334A>T ENSP00000501910.1:p.Lys1445Ile
ENST00000675487.1:c.*1191A>T ENSP00000502340.1:p.=
ENST00000675718.1:n.4527A>T
ENST00000676102.1:c.4103A>T ENSP00000502811.1:p.Lys1368Ile
ENST00000260766.7:c.5258A>T ENSP00000260766.3:p.Lys1753Ile
ENST00000371375.1:n.4334A>T ENSP00000360426.1:p.Lys1445Ile
ENST00000371380.7:c.5258A>T ENSP00000360431.2:p.Lys1753Ile
ENST00000371385.7:c.4334A>T ENSP00000360438.3:p.Lys1445Ile
NM_001165979.2:c.4334A>T NP_001159451.1:p.Lys1445Ile
NM_001288989.1:c.5210A>T NP_001275918.1:p.Lys1737Ile
NM_016341.3:c.5258A>T NP_057425.3:p.Lys1753Ile
XM_006717885.2:c.5300A>T XP_006717948.1:p.Lys1767Ile
XM_006717886.2:c.5300A>T XP_006717949.1:p.Lys1767Ile
XM_006717888.2:c.5297A>T XP_006717951.1:p.Lys1766Ile
XM_006717889.2:c.5252A>T XP_006717952.1:p.Lys1751Ile
XM_006717890.1:c.4376A>T XP_006717953.1:p.Lys1459Ile
XM_011539849.1:c.5300A>T XP_011538151.1:p.Lys1767Ile
XM_011539850.1:c.4145A>T XP_011538152.1:p.Lys1382Ile
XM_006717885.4:c.5300A>T XP_006717948.1:p.Lys1767Ile
XM_006717888.4:c.5297A>T XP_006717951.1:p.Lys1766Ile
XM_006717889.4:c.5252A>T XP_006717952.1:p.Lys1751Ile
XM_006717890.3:c.4376A>T XP_006717953.1:p.Lys1459Ile
XM_011539849.3:c.5300A>T XP_011538151.1:p.Lys1767Ile
XM_011539850.3:c.4145A>T XP_011538152.1:p.Lys1382Ile
XM_017016310.2:c.5300A>T XP_016871799.1:p.Lys1767Ile
XM_017016311.2:c.5300A>T XP_016871800.1:p.Lys1767Ile
XM_017016312.2:c.4286A>T XP_016871801.1:p.Lys1429Ile
NM_001288989.2:c.5210A>T NP_001275918.1:p.Lys1737Ile
NM_016341.4:c.5258A>T MANE Select NP_057425.3:p.Lys1753Ile