Canonical Allele Identifier: CA377642042
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298562T>A , CM000672.2:g.94298562T>A GRCh38
NC_000010.10:g.96058319T>A , CM000672.1:g.96058319T>A GRCh37
NC_000010.9:g.96048309T>A NCBI36
NG_015799.1:g.309574T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5351T>A MANE Select ENSP00000360431.2:p.Leu1784Gln
ENST00000371385.8:c.4325T>A ENSP00000360438.4:p.Leu1442Gln
ENST00000674738.1:n.3906T>A
ENST00000674827.1:n.3467T>A ENSP00000502523.1:p.Leu1156Gln
ENST00000675218.1:n.4427T>A ENSP00000501910.1:p.Leu1476Gln
ENST00000675487.1:c.*1284T>A ENSP00000502340.1:p.=
ENST00000675718.1:n.4620T>A
ENST00000260766.7:c.5351T>A ENSP00000260766.3:p.Leu1784Gln
ENST00000371375.1:n.4427T>A ENSP00000360426.1:p.Leu1476Gln
ENST00000371380.7:c.5351T>A ENSP00000360431.2:p.Leu1784Gln
ENST00000371385.7:c.4427T>A ENSP00000360438.3:p.Leu1476Gln
NM_001165979.2:c.4427T>A NP_001159451.1:p.Leu1476Gln
NM_001288989.1:c.5303T>A NP_001275918.1:p.Leu1768Gln
NM_016341.3:c.5351T>A NP_057425.3:p.Leu1784Gln
XM_006717885.2:c.5393T>A XP_006717948.1:p.Leu1798Gln
XM_006717886.2:c.5393T>A XP_006717949.1:p.Leu1798Gln
XM_006717888.2:c.5390T>A XP_006717951.1:p.Leu1797Gln
XM_006717889.2:c.5345T>A XP_006717952.1:p.Leu1782Gln
XM_006717890.1:c.4469T>A XP_006717953.1:p.Leu1490Gln
XM_011539849.1:c.5393T>A XP_011538151.1:p.Leu1798Gln
XM_011539850.1:c.4238T>A XP_011538152.1:p.Leu1413Gln
XM_006717885.4:c.5393T>A XP_006717948.1:p.Leu1798Gln
XM_006717888.4:c.5390T>A XP_006717951.1:p.Leu1797Gln
XM_006717889.4:c.5345T>A XP_006717952.1:p.Leu1782Gln
XM_006717890.3:c.4469T>A XP_006717953.1:p.Leu1490Gln
XM_011539849.3:c.5393T>A XP_011538151.1:p.Leu1798Gln
XM_011539850.3:c.4238T>A XP_011538152.1:p.Leu1413Gln
XM_017016310.2:c.5393T>A XP_016871799.1:p.Leu1798Gln
XM_017016311.2:c.5393T>A XP_016871800.1:p.Leu1798Gln
XM_017016312.2:c.4379T>A XP_016871801.1:p.Leu1460Gln
NM_001288989.2:c.5303T>A NP_001275918.1:p.Leu1768Gln
NM_016341.4:c.5351T>A MANE Select NP_057425.3:p.Leu1784Gln