Canonical Allele Identifier: CA470986467
Gene: PLCE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.96058216A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298459A>C , CM000672.2:g.94298459A>C GRCh38
NC_000010.10:g.96058216A>C , CM000672.1:g.96058216A>C GRCh37
NC_000010.9:g.96048206A>C NCBI36
NG_015799.1:g.309471A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5248A>C MANE Select ENSP00000360431.2:p.Arg1750=
ENST00000371385.8:c.4222A>C ENSP00000360438.4:p.Arg1408=
ENST00000674738.1:n.3803A>C
ENST00000674827.1:n.3364A>C ENSP00000502523.1:p.Arg1122=
ENST00000675218.1:n.4324A>C ENSP00000501910.1:p.Arg1442=
ENST00000675487.1:c.*1181A>C ENSP00000502340.1:p.=
ENST00000675718.1:n.4517A>C
ENST00000676102.1:c.4093A>C ENSP00000502811.1:p.Arg1365=
ENST00000260766.7:c.5248A>C ENSP00000260766.3:p.Arg1750=
ENST00000371375.1:n.4324A>C ENSP00000360426.1:p.Arg1442=
ENST00000371380.7:c.5248A>C ENSP00000360431.2:p.Arg1750=
ENST00000371385.7:c.4324A>C ENSP00000360438.3:p.Arg1442=
NM_001165979.2:c.4324A>C NP_001159451.1:p.Arg1442=
NM_001288989.1:c.5200A>C NP_001275918.1:p.Arg1734=
NM_016341.3:c.5248A>C NP_057425.3:p.Arg1750=
XM_006717885.2:c.5290A>C XP_006717948.1:p.Arg1764=
XM_006717886.2:c.5290A>C XP_006717949.1:p.Arg1764=
XM_006717888.2:c.5287A>C XP_006717951.1:p.Arg1763=
XM_006717889.2:c.5242A>C XP_006717952.1:p.Arg1748=
XM_006717890.1:c.4366A>C XP_006717953.1:p.Arg1456=
XM_011539849.1:c.5290A>C XP_011538151.1:p.Arg1764=
XM_011539850.1:c.4135A>C XP_011538152.1:p.Arg1379=
XM_006717885.4:c.5290A>C XP_006717948.1:p.Arg1764=
XM_006717888.4:c.5287A>C XP_006717951.1:p.Arg1763=
XM_006717889.4:c.5242A>C XP_006717952.1:p.Arg1748=
XM_006717890.3:c.4366A>C XP_006717953.1:p.Arg1456=
XM_011539849.3:c.5290A>C XP_011538151.1:p.Arg1764=
XM_011539850.3:c.4135A>C XP_011538152.1:p.Arg1379=
XM_017016310.2:c.5290A>C XP_016871799.1:p.Arg1764=
XM_017016311.2:c.5290A>C XP_016871800.1:p.Arg1764=
XM_017016312.2:c.4276A>C XP_016871801.1:p.Arg1426=
NM_001288989.2:c.5200A>C NP_001275918.1:p.Arg1734=
NM_016341.4:c.5248A>C MANE Select NP_057425.3:p.Arg1750=