Canonical Allele Identifier: CA470986479
Gene: PLCE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.96058227A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298470A>G , CM000672.2:g.94298470A>G GRCh38
NC_000010.10:g.96058227A>G , CM000672.1:g.96058227A>G GRCh37
NC_000010.9:g.96048217A>G NCBI36
NG_015799.1:g.309482A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5259A>G MANE Select ENSP00000360431.2:p.Lys1753=
ENST00000371385.8:c.4233A>G ENSP00000360438.4:p.Lys1411=
ENST00000674738.1:n.3814A>G
ENST00000674827.1:n.3375A>G ENSP00000502523.1:p.Lys1125=
ENST00000675218.1:n.4335A>G ENSP00000501910.1:p.Lys1445=
ENST00000675487.1:c.*1192A>G ENSP00000502340.1:p.=
ENST00000675718.1:n.4528A>G
ENST00000676102.1:c.4104A>G ENSP00000502811.1:p.Lys1368=
ENST00000260766.7:c.5259A>G ENSP00000260766.3:p.Lys1753=
ENST00000371375.1:n.4335A>G ENSP00000360426.1:p.Lys1445=
ENST00000371380.7:c.5259A>G ENSP00000360431.2:p.Lys1753=
ENST00000371385.7:c.4335A>G ENSP00000360438.3:p.Lys1445=
NM_001165979.2:c.4335A>G NP_001159451.1:p.Lys1445=
NM_001288989.1:c.5211A>G NP_001275918.1:p.Lys1737=
NM_016341.3:c.5259A>G NP_057425.3:p.Lys1753=
XM_006717885.2:c.5301A>G XP_006717948.1:p.Lys1767=
XM_006717886.2:c.5301A>G XP_006717949.1:p.Lys1767=
XM_006717888.2:c.5298A>G XP_006717951.1:p.Lys1766=
XM_006717889.2:c.5253A>G XP_006717952.1:p.Lys1751=
XM_006717890.1:c.4377A>G XP_006717953.1:p.Lys1459=
XM_011539849.1:c.5301A>G XP_011538151.1:p.Lys1767=
XM_011539850.1:c.4146A>G XP_011538152.1:p.Lys1382=
XM_006717885.4:c.5301A>G XP_006717948.1:p.Lys1767=
XM_006717888.4:c.5298A>G XP_006717951.1:p.Lys1766=
XM_006717889.4:c.5253A>G XP_006717952.1:p.Lys1751=
XM_006717890.3:c.4377A>G XP_006717953.1:p.Lys1459=
XM_011539849.3:c.5301A>G XP_011538151.1:p.Lys1767=
XM_011539850.3:c.4146A>G XP_011538152.1:p.Lys1382=
XM_017016310.2:c.5301A>G XP_016871799.1:p.Lys1767=
XM_017016311.2:c.5301A>G XP_016871800.1:p.Lys1767=
XM_017016312.2:c.4287A>G XP_016871801.1:p.Lys1429=
NM_001288989.2:c.5211A>G NP_001275918.1:p.Lys1737=
NM_016341.4:c.5259A>G MANE Select NP_057425.3:p.Lys1753=