Canonical Allele Identifier: CA377642249
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298637T>A , CM000672.2:g.94298637T>A GRCh38
NC_000010.10:g.96058394T>A , CM000672.1:g.96058394T>A GRCh37
NC_000010.9:g.96048384T>A NCBI36
NG_015799.1:g.309649T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4502T>A ENSP00000360426.1:p.Ile1501Lys
ENST00000685253.1:c.*1969T>A ENSP00000509405.1:n.*1969T>A
ENST00000685889.1:n.2161T>A
ENST00000686807.1:n.845T>A
ENST00000686954.1:c.*710T>A ENSP00000508416.1:n.*710T>A
ENST00000688810.1:c.4454T>A ENSP00000509140.1:p.Ile1485Lys
ENST00000689233.1:n.9634T>A
ENST00000690340.1:n.3099T>A
ENST00000692286.1:c.5294T>A ENSP00000509490.1:p.Ile1765Lys
ENST00000692396.1:c.5378T>A ENSP00000508605.1:p.Ile1793Lys
ENST00000371380.8:c.5426T>A MANE Select ENSP00000360431.2:p.Ile1809Lys
ENST00000371385.8:c.4400T>A ENSP00000360438.4:p.Ile1467Lys
ENST00000674738.1:c.3981T>A
ENST00000674827.1:c.3542T>A ENSP00000502523.1:p.Ile1181Lys
ENST00000675218.1:c.4502T>A ENSP00000501910.1:p.Ile1501Lys
ENST00000675487.1:c.*1359T>A ENSP00000502340.1:n.*1359T>A
ENST00000675718.1:c.4695T>A
ENST00000260766.7:c.5426T>A ENSP00000260766.3:p.Ile1809Lys
ENST00000371375.1:c.4502T>A ENSP00000360426.1:p.Ile1501Lys
ENST00000371380.7:c.5426T>A ENSP00000360431.2:p.Ile1809Lys
ENST00000371385.7:c.4502T>A ENSP00000360438.3:p.Ile1501Lys
NM_001165979.2:c.4502T>A NP_001159451.1:p.Ile1501Lys
NM_001288989.1:c.5378T>A NP_001275918.1:p.Ile1793Lys
NM_016341.3:c.5426T>A NP_057425.3:p.Ile1809Lys
XM_006717885.2:c.5468T>A XP_006717948.1:p.Ile1823Lys
XM_006717886.2:c.5468T>A XP_006717949.1:p.Ile1823Lys
XM_006717888.2:c.5465T>A XP_006717951.1:p.Ile1822Lys
XM_006717889.2:c.5420T>A XP_006717952.1:p.Ile1807Lys
XM_006717890.1:c.4544T>A XP_006717953.1:p.Ile1515Lys
XM_011539849.1:c.5468T>A XP_011538151.1:p.Ile1823Lys
XM_011539850.1:c.4313T>A XP_011538152.1:p.Ile1438Lys
XM_006717885.4:c.5468T>A XP_006717948.1:p.Ile1823Lys
XM_006717888.4:c.5465T>A XP_006717951.1:p.Ile1822Lys
XM_006717889.4:c.5420T>A XP_006717952.1:p.Ile1807Lys
XM_006717890.3:c.4544T>A XP_006717953.1:p.Ile1515Lys
XM_011539849.3:c.5468T>A XP_011538151.1:p.Ile1823Lys
XM_011539850.3:c.4313T>A XP_011538152.1:p.Ile1438Lys
XM_017016310.2:c.5468T>A XP_016871799.1:p.Ile1823Lys
XM_017016311.2:c.5468T>A XP_016871800.1:p.Ile1823Lys
XM_017016312.2:c.4454T>A XP_016871801.1:p.Ile1485Lys
NM_001288989.2:c.5378T>A NP_001275918.1:p.Ile1793Lys
NM_016341.4:c.5426T>A MANE Select NP_057425.3:p.Ile1809Lys