Canonical Allele Identifier: CA377643129
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94304592T>C , CM000672.2:g.94304592T>C GRCh38
NC_000010.10:g.96064349T>C , CM000672.1:g.96064349T>C GRCh37
NC_000010.9:g.96054339T>C NCBI36
NG_015799.1:g.315604T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4645T>C ENSP00000360426.1:p.Ser1549Pro
ENST00000685253.1:c.*2112T>C ENSP00000509405.1:n.*2112T>C
ENST00000685889.1:n.2304T>C
ENST00000686807.1:n.988T>C
ENST00000686954.1:c.*853T>C ENSP00000508416.1:n.*853T>C
ENST00000688810.1:c.4597T>C ENSP00000509140.1:p.Ser1533Pro
ENST00000689233.1:n.9777T>C
ENST00000690340.1:n.3242T>C
ENST00000692286.1:c.5437T>C ENSP00000509490.1:p.Ser1813Pro
ENST00000692396.1:c.5521T>C ENSP00000508605.1:p.Ser1841Pro
ENST00000371380.8:c.5569T>C MANE Select ENSP00000360431.2:p.Ser1857Pro
ENST00000371385.8:c.4543T>C ENSP00000360438.4:p.Ser1515Pro
ENST00000674738.1:c.4124T>C
ENST00000674827.1:c.3685T>C ENSP00000502523.1:p.Ser1229Pro
ENST00000675218.1:c.4645T>C ENSP00000501910.1:p.Ser1549Pro
ENST00000675487.1:c.*1502T>C ENSP00000502340.1:n.*1502T>C
ENST00000675718.1:c.4838T>C
ENST00000260766.7:c.5569T>C ENSP00000260766.3:p.Ser1857Pro
ENST00000371375.1:c.4645T>C ENSP00000360426.1:p.Ser1549Pro
ENST00000371380.7:c.5569T>C ENSP00000360431.2:p.Ser1857Pro
ENST00000371385.7:c.4645T>C ENSP00000360438.3:p.Ser1549Pro
NM_001165979.2:c.4645T>C NP_001159451.1:p.Ser1549Pro
NM_001288989.1:c.5521T>C NP_001275918.1:p.Ser1841Pro
NM_016341.3:c.5569T>C NP_057425.3:p.Ser1857Pro
XM_006717885.2:c.5611T>C XP_006717948.1:p.Ser1871Pro
XM_006717886.2:c.5611T>C XP_006717949.1:p.Ser1871Pro
XM_006717888.2:c.5608T>C XP_006717951.1:p.Ser1870Pro
XM_006717889.2:c.5563T>C XP_006717952.1:p.Ser1855Pro
XM_006717890.1:c.4687T>C XP_006717953.1:p.Ser1563Pro
XM_011539849.1:c.5611T>C XP_011538151.1:p.Ser1871Pro
XM_011539850.1:c.4456T>C XP_011538152.1:p.Ser1486Pro
XM_006717885.4:c.5611T>C XP_006717948.1:p.Ser1871Pro
XM_006717888.4:c.5608T>C XP_006717951.1:p.Ser1870Pro
XM_006717889.4:c.5563T>C XP_006717952.1:p.Ser1855Pro
XM_006717890.3:c.4687T>C XP_006717953.1:p.Ser1563Pro
XM_011539849.3:c.5611T>C XP_011538151.1:p.Ser1871Pro
XM_011539850.3:c.4456T>C XP_011538152.1:p.Ser1486Pro
XM_017016310.2:c.5611T>C XP_016871799.1:p.Ser1871Pro
XM_017016311.2:c.5611T>C XP_016871800.1:p.Ser1871Pro
XM_017016312.2:c.4597T>C XP_016871801.1:p.Ser1533Pro
NM_001288989.2:c.5521T>C NP_001275918.1:p.Ser1841Pro
NM_016341.4:c.5569T>C MANE Select NP_057425.3:p.Ser1857Pro