Canonical Allele Identifier: CA377641998
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs3765524

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298541C>A , CM000672.2:g.94298541C>A GRCh38
NC_000010.10:g.96058298C>A , CM000672.1:g.96058298C>A GRCh37
NC_000010.9:g.96048288C>A NCBI36
NG_015799.1:g.309553C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4406C>A ENSP00000360426.1:p.Thr1469Asn
ENST00000685253.1:c.*1873C>A ENSP00000509405.1:n.*1873C>A
ENST00000685889.1:n.2065C>A
ENST00000686807.1:n.749C>A
ENST00000686954.1:c.*614C>A ENSP00000508416.1:n.*614C>A
ENST00000688810.1:c.4358C>A ENSP00000509140.1:p.Thr1453Asn
ENST00000689233.1:n.9538C>A
ENST00000690340.1:n.3003C>A
ENST00000692286.1:c.5198C>A ENSP00000509490.1:p.Thr1733Asn
ENST00000692396.1:c.5282C>A ENSP00000508605.1:p.Thr1761Asn
ENST00000371380.8:c.5330C>A MANE Select ENSP00000360431.2:p.Thr1777Asn
ENST00000371385.8:c.4304C>A ENSP00000360438.4:p.Thr1435Asn
ENST00000674738.1:c.3885C>A
ENST00000674827.1:c.3446C>A ENSP00000502523.1:p.Thr1149Asn
ENST00000675218.1:c.4406C>A ENSP00000501910.1:p.Thr1469Asn
ENST00000675487.1:c.*1263C>A ENSP00000502340.1:n.*1263C>A
ENST00000675718.1:c.4599C>A
ENST00000260766.7:c.5330C>A ENSP00000260766.3:p.Thr1777Asn
ENST00000371375.1:c.4406C>A ENSP00000360426.1:p.Thr1469Asn
ENST00000371380.7:c.5330C>A ENSP00000360431.2:p.Thr1777Asn
ENST00000371385.7:c.4406C>A ENSP00000360438.3:p.Thr1469Asn
NM_001165979.2:c.4406C>A NP_001159451.1:p.Thr1469Asn
NM_001288989.1:c.5282C>A NP_001275918.1:p.Thr1761Asn
NM_016341.3:c.5330C>A NP_057425.3:p.Thr1777Asn
XM_006717885.2:c.5372C>A XP_006717948.1:p.Thr1791Asn
XM_006717886.2:c.5372C>A XP_006717949.1:p.Thr1791Asn
XM_006717888.2:c.5369C>A XP_006717951.1:p.Thr1790Asn
XM_006717889.2:c.5324C>A XP_006717952.1:p.Thr1775Asn
XM_006717890.1:c.4448C>A XP_006717953.1:p.Thr1483Asn
XM_011539849.1:c.5372C>A XP_011538151.1:p.Thr1791Asn
XM_011539850.1:c.4217C>A XP_011538152.1:p.Thr1406Asn
XM_006717885.4:c.5372C>A XP_006717948.1:p.Thr1791Asn
XM_006717888.4:c.5369C>A XP_006717951.1:p.Thr1790Asn
XM_006717889.4:c.5324C>A XP_006717952.1:p.Thr1775Asn
XM_006717890.3:c.4448C>A XP_006717953.1:p.Thr1483Asn
XM_011539849.3:c.5372C>A XP_011538151.1:p.Thr1791Asn
XM_011539850.3:c.4217C>A XP_011538152.1:p.Thr1406Asn
XM_017016310.2:c.5372C>A XP_016871799.1:p.Thr1791Asn
XM_017016311.2:c.5372C>A XP_016871800.1:p.Thr1791Asn
XM_017016312.2:c.4358C>A XP_016871801.1:p.Thr1453Asn
NM_001288989.2:c.5282C>A NP_001275918.1:p.Thr1761Asn
NM_016341.4:c.5330C>A MANE Select NP_057425.3:p.Thr1777Asn