Canonical Allele Identifier: CA377642018
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs749337785

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298550C>A , CM000672.2:g.94298550C>A GRCh38
NC_000010.10:g.96058307C>A , CM000672.1:g.96058307C>A GRCh37
NC_000010.9:g.96048297C>A NCBI36
NG_015799.1:g.309562C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4415C>A ENSP00000360426.1:p.Thr1472Asn
ENST00000685253.1:c.*1882C>A ENSP00000509405.1:n.*1882C>A
ENST00000685889.1:n.2074C>A
ENST00000686807.1:n.758C>A
ENST00000686954.1:c.*623C>A ENSP00000508416.1:n.*623C>A
ENST00000688810.1:c.4367C>A ENSP00000509140.1:p.Thr1456Asn
ENST00000689233.1:n.9547C>A
ENST00000690340.1:n.3012C>A
ENST00000692286.1:c.5207C>A ENSP00000509490.1:p.Thr1736Asn
ENST00000692396.1:c.5291C>A ENSP00000508605.1:p.Thr1764Asn
ENST00000371380.8:c.5339C>A MANE Select ENSP00000360431.2:p.Thr1780Asn
ENST00000371385.8:c.4313C>A ENSP00000360438.4:p.Thr1438Asn
ENST00000674738.1:c.3894C>A
ENST00000674827.1:c.3455C>A ENSP00000502523.1:p.Thr1152Asn
ENST00000675218.1:c.4415C>A ENSP00000501910.1:p.Thr1472Asn
ENST00000675487.1:c.*1272C>A ENSP00000502340.1:n.*1272C>A
ENST00000675718.1:c.4608C>A
ENST00000260766.7:c.5339C>A ENSP00000260766.3:p.Thr1780Asn
ENST00000371375.1:c.4415C>A ENSP00000360426.1:p.Thr1472Asn
ENST00000371380.7:c.5339C>A ENSP00000360431.2:p.Thr1780Asn
ENST00000371385.7:c.4415C>A ENSP00000360438.3:p.Thr1472Asn
NM_001165979.2:c.4415C>A NP_001159451.1:p.Thr1472Asn
NM_001288989.1:c.5291C>A NP_001275918.1:p.Thr1764Asn
NM_016341.3:c.5339C>A NP_057425.3:p.Thr1780Asn
XM_006717885.2:c.5381C>A XP_006717948.1:p.Thr1794Asn
XM_006717886.2:c.5381C>A XP_006717949.1:p.Thr1794Asn
XM_006717888.2:c.5378C>A XP_006717951.1:p.Thr1793Asn
XM_006717889.2:c.5333C>A XP_006717952.1:p.Thr1778Asn
XM_006717890.1:c.4457C>A XP_006717953.1:p.Thr1486Asn
XM_011539849.1:c.5381C>A XP_011538151.1:p.Thr1794Asn
XM_011539850.1:c.4226C>A XP_011538152.1:p.Thr1409Asn
XM_006717885.4:c.5381C>A XP_006717948.1:p.Thr1794Asn
XM_006717888.4:c.5378C>A XP_006717951.1:p.Thr1793Asn
XM_006717889.4:c.5333C>A XP_006717952.1:p.Thr1778Asn
XM_006717890.3:c.4457C>A XP_006717953.1:p.Thr1486Asn
XM_011539849.3:c.5381C>A XP_011538151.1:p.Thr1794Asn
XM_011539850.3:c.4226C>A XP_011538152.1:p.Thr1409Asn
XM_017016310.2:c.5381C>A XP_016871799.1:p.Thr1794Asn
XM_017016311.2:c.5381C>A XP_016871800.1:p.Thr1794Asn
XM_017016312.2:c.4367C>A XP_016871801.1:p.Thr1456Asn
NM_001288989.2:c.5291C>A NP_001275918.1:p.Thr1764Asn
NM_016341.4:c.5339C>A MANE Select NP_057425.3:p.Thr1780Asn