Canonical Allele Identifier: CA377641837
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298468A>T , CM000672.2:g.94298468A>T GRCh38
NC_000010.10:g.96058225A>T , CM000672.1:g.96058225A>T GRCh37
NC_000010.9:g.96048215A>T NCBI36
NG_015799.1:g.309480A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4333A>T ENSP00000360426.1:p.Lys1445Ter
ENST00000685253.1:c.*1800A>T ENSP00000509405.1:n.*1800A>T
ENST00000685889.1:n.1992A>T
ENST00000686807.1:n.676A>T
ENST00000686954.1:c.*541A>T ENSP00000508416.1:n.*541A>T
ENST00000688810.1:c.4285A>T ENSP00000509140.1:p.Lys1429Ter
ENST00000689233.1:n.9465A>T
ENST00000690340.1:n.2930A>T
ENST00000692286.1:c.5125A>T ENSP00000509490.1:p.Lys1709Ter
ENST00000692396.1:c.5209A>T ENSP00000508605.1:p.Lys1737Ter
ENST00000371380.8:c.5257A>T MANE Select ENSP00000360431.2:p.Lys1753Ter
ENST00000371385.8:c.4231A>T ENSP00000360438.4:p.Lys1411Ter
ENST00000674738.1:c.3812A>T
ENST00000674827.1:c.3373A>T ENSP00000502523.1:p.Lys1125Ter
ENST00000675218.1:c.4333A>T ENSP00000501910.1:p.Lys1445Ter
ENST00000675487.1:c.*1190A>T ENSP00000502340.1:n.*1190A>T
ENST00000675718.1:c.4526A>T
ENST00000676102.1:c.4102A>T ENSP00000502811.1:p.Lys1368Ter
ENST00000260766.7:c.5257A>T ENSP00000260766.3:p.Lys1753Ter
ENST00000371375.1:c.4333A>T ENSP00000360426.1:p.Lys1445Ter
ENST00000371380.7:c.5257A>T ENSP00000360431.2:p.Lys1753Ter
ENST00000371385.7:c.4333A>T ENSP00000360438.3:p.Lys1445Ter
NM_001165979.2:c.4333A>T NP_001159451.1:p.Lys1445Ter
NM_001288989.1:c.5209A>T NP_001275918.1:p.Lys1737Ter
NM_016341.3:c.5257A>T NP_057425.3:p.Lys1753Ter
XM_006717885.2:c.5299A>T XP_006717948.1:p.Lys1767Ter
XM_006717886.2:c.5299A>T XP_006717949.1:p.Lys1767Ter
XM_006717888.2:c.5296A>T XP_006717951.1:p.Lys1766Ter
XM_006717889.2:c.5251A>T XP_006717952.1:p.Lys1751Ter
XM_006717890.1:c.4375A>T XP_006717953.1:p.Lys1459Ter
XM_011539849.1:c.5299A>T XP_011538151.1:p.Lys1767Ter
XM_011539850.1:c.4144A>T XP_011538152.1:p.Lys1382Ter
XM_006717885.4:c.5299A>T XP_006717948.1:p.Lys1767Ter
XM_006717888.4:c.5296A>T XP_006717951.1:p.Lys1766Ter
XM_006717889.4:c.5251A>T XP_006717952.1:p.Lys1751Ter
XM_006717890.3:c.4375A>T XP_006717953.1:p.Lys1459Ter
XM_011539849.3:c.5299A>T XP_011538151.1:p.Lys1767Ter
XM_011539850.3:c.4144A>T XP_011538152.1:p.Lys1382Ter
XM_017016310.2:c.5299A>T XP_016871799.1:p.Lys1767Ter
XM_017016311.2:c.5299A>T XP_016871800.1:p.Lys1767Ter
XM_017016312.2:c.4285A>T XP_016871801.1:p.Lys1429Ter
NM_001288989.2:c.5209A>T NP_001275918.1:p.Lys1737Ter
NM_016341.4:c.5257A>T MANE Select NP_057425.3:p.Lys1753Ter