Canonical Allele Identifier: CA470807535
Gene: PLCE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.96053332T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94293575T>C , CM000672.2:g.94293575T>C GRCh38
NC_000010.10:g.96053332T>C , CM000672.1:g.96053332T>C GRCh37
NC_000010.9:g.96043322T>C NCBI36
NG_015799.1:g.304587T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4179T>C ENSP00000360426.1:p.Phe1393=
ENST00000685253.1:c.*1646T>C ENSP00000509405.1:n.*1646T>C
ENST00000685889.1:n.1838T>C
ENST00000686807.1:n.522T>C
ENST00000686954.1:c.*387T>C ENSP00000508416.1:n.*387T>C
ENST00000688810.1:c.4131T>C ENSP00000509140.1:p.Phe1377=
ENST00000689233.1:n.9311T>C
ENST00000690340.1:n.2776T>C
ENST00000692286.1:c.5036-4804T>C ENSP00000509490.1:n.5036-4804T>C
ENST00000692396.1:c.5055T>C ENSP00000508605.1:p.Phe1685=
ENST00000371380.8:c.5103T>C MANE Select ENSP00000360431.2:p.Phe1701=
ENST00000371385.8:c.4077T>C ENSP00000360438.4:p.Phe1359=
ENST00000674738.1:c.3658T>C
ENST00000674827.1:c.3219T>C ENSP00000502523.1:p.Phe1073=
ENST00000675218.1:c.4179T>C ENSP00000501910.1:p.Phe1393=
ENST00000675487.1:c.*1036T>C ENSP00000502340.1:n.*1036T>C
ENST00000675718.1:c.4372T>C
ENST00000676102.1:c.3948T>C ENSP00000502811.1:p.Phe1316=
ENST00000260766.7:c.5103T>C ENSP00000260766.3:p.Phe1701=
ENST00000371375.1:c.4179T>C ENSP00000360426.1:p.Phe1393=
ENST00000371380.7:c.5103T>C ENSP00000360431.2:p.Phe1701=
ENST00000371385.7:c.4179T>C ENSP00000360438.3:p.Phe1393=
NM_001165979.2:c.4179T>C NP_001159451.1:p.Phe1393=
NM_001288989.1:c.5055T>C NP_001275918.1:p.Phe1685=
NM_016341.3:c.5103T>C NP_057425.3:p.Phe1701=
XM_006717885.2:c.5145T>C XP_006717948.1:p.Phe1715=
XM_006717886.2:c.5145T>C XP_006717949.1:p.Phe1715=
XM_006717888.2:c.5142T>C XP_006717951.1:p.Phe1714=
XM_006717889.2:c.5097T>C XP_006717952.1:p.Phe1699=
XM_006717890.1:c.4221T>C XP_006717953.1:p.Phe1407=
XM_011539849.1:c.5145T>C XP_011538151.1:p.Phe1715=
XM_011539850.1:c.3990T>C XP_011538152.1:p.Phe1330=
XM_006717885.4:c.5145T>C XP_006717948.1:p.Phe1715=
XM_006717888.4:c.5142T>C XP_006717951.1:p.Phe1714=
XM_006717889.4:c.5097T>C XP_006717952.1:p.Phe1699=
XM_006717890.3:c.4221T>C XP_006717953.1:p.Phe1407=
XM_011539849.3:c.5145T>C XP_011538151.1:p.Phe1715=
XM_011539850.3:c.3990T>C XP_011538152.1:p.Phe1330=
XM_017016310.2:c.5145T>C XP_016871799.1:p.Phe1715=
XM_017016311.2:c.5145T>C XP_016871800.1:p.Phe1715=
XM_017016312.2:c.4131T>C XP_016871801.1:p.Phe1377=
NM_001288989.2:c.5055T>C NP_001275918.1:p.Phe1685=
NM_016341.4:c.5103T>C MANE Select NP_057425.3:p.Phe1701=