Canonical Allele Identifier: CA377641940
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298514T>A , CM000672.2:g.94298514T>A GRCh38
NC_000010.10:g.96058271T>A , CM000672.1:g.96058271T>A GRCh37
NC_000010.9:g.96048261T>A NCBI36
NG_015799.1:g.309526T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4379T>A ENSP00000360426.1:p.Leu1460Gln
ENST00000685253.1:c.*1846T>A ENSP00000509405.1:n.*1846T>A
ENST00000685889.1:n.2038T>A
ENST00000686807.1:n.722T>A
ENST00000686954.1:c.*587T>A ENSP00000508416.1:n.*587T>A
ENST00000688810.1:c.4331T>A ENSP00000509140.1:p.Leu1444Gln
ENST00000689233.1:n.9511T>A
ENST00000690340.1:n.2976T>A
ENST00000692286.1:c.5171T>A ENSP00000509490.1:p.Leu1724Gln
ENST00000692396.1:c.5255T>A ENSP00000508605.1:p.Leu1752Gln
ENST00000371380.8:c.5303T>A MANE Select ENSP00000360431.2:p.Leu1768Gln
ENST00000371385.8:c.4277T>A ENSP00000360438.4:p.Leu1426Gln
ENST00000674738.1:c.3858T>A
ENST00000674827.1:c.3419T>A ENSP00000502523.1:p.Leu1140Gln
ENST00000675218.1:c.4379T>A ENSP00000501910.1:p.Leu1460Gln
ENST00000675487.1:c.*1236T>A ENSP00000502340.1:n.*1236T>A
ENST00000675718.1:c.4572T>A
ENST00000260766.7:c.5303T>A ENSP00000260766.3:p.Leu1768Gln
ENST00000371375.1:c.4379T>A ENSP00000360426.1:p.Leu1460Gln
ENST00000371380.7:c.5303T>A ENSP00000360431.2:p.Leu1768Gln
ENST00000371385.7:c.4379T>A ENSP00000360438.3:p.Leu1460Gln
NM_001165979.2:c.4379T>A NP_001159451.1:p.Leu1460Gln
NM_001288989.1:c.5255T>A NP_001275918.1:p.Leu1752Gln
NM_016341.3:c.5303T>A NP_057425.3:p.Leu1768Gln
XM_006717885.2:c.5345T>A XP_006717948.1:p.Leu1782Gln
XM_006717886.2:c.5345T>A XP_006717949.1:p.Leu1782Gln
XM_006717888.2:c.5342T>A XP_006717951.1:p.Leu1781Gln
XM_006717889.2:c.5297T>A XP_006717952.1:p.Leu1766Gln
XM_006717890.1:c.4421T>A XP_006717953.1:p.Leu1474Gln
XM_011539849.1:c.5345T>A XP_011538151.1:p.Leu1782Gln
XM_011539850.1:c.4190T>A XP_011538152.1:p.Leu1397Gln
XM_006717885.4:c.5345T>A XP_006717948.1:p.Leu1782Gln
XM_006717888.4:c.5342T>A XP_006717951.1:p.Leu1781Gln
XM_006717889.4:c.5297T>A XP_006717952.1:p.Leu1766Gln
XM_006717890.3:c.4421T>A XP_006717953.1:p.Leu1474Gln
XM_011539849.3:c.5345T>A XP_011538151.1:p.Leu1782Gln
XM_011539850.3:c.4190T>A XP_011538152.1:p.Leu1397Gln
XM_017016310.2:c.5345T>A XP_016871799.1:p.Leu1782Gln
XM_017016311.2:c.5345T>A XP_016871800.1:p.Leu1782Gln
XM_017016312.2:c.4331T>A XP_016871801.1:p.Leu1444Gln
NM_001288989.2:c.5255T>A NP_001275918.1:p.Leu1752Gln
NM_016341.4:c.5303T>A MANE Select NP_057425.3:p.Leu1768Gln