Canonical Allele Identifier: CA1928998399
Gene: PLCE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298444C= , CM000672.2:g.94298444C= GRCh38
NC_000010.10:g.96058201C= , CM000672.1:g.96058201C= GRCh37
NC_000010.9:g.96048191C= NCBI36
NG_015799.1:g.309456C=

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4309C= ENSP00000360426.1:p.Leu1437=
ENST00000685253.1:c.*1776C= ENSP00000509405.1:n.*1776C=
ENST00000685889.1:n.1968C=
ENST00000686807.1:n.652C=
ENST00000686954.1:c.*517C= ENSP00000508416.1:n.*517C=
ENST00000688810.1:c.4261C= ENSP00000509140.1:p.Leu1421=
ENST00000689233.1:n.9441C=
ENST00000690340.1:n.2906C=
ENST00000692286.1:c.5101C= ENSP00000509490.1:p.Leu1701=
ENST00000692396.1:c.5185C= ENSP00000508605.1:p.Leu1729=
ENST00000371380.8:c.5233C= MANE Select ENSP00000360431.2:p.Leu1745=
ENST00000371385.8:c.4207C= ENSP00000360438.4:p.Leu1403=
ENST00000674738.1:c.3788C=
ENST00000674827.1:c.3349C= ENSP00000502523.1:p.Leu1117=
ENST00000675218.1:c.4309C= ENSP00000501910.1:p.Leu1437=
ENST00000675487.1:c.*1166C= ENSP00000502340.1:n.*1166C=
ENST00000675718.1:c.4502C=
ENST00000676102.1:c.4078C= ENSP00000502811.1:p.Leu1360=
ENST00000260766.7:c.5233C= ENSP00000260766.3:p.Leu1745=
ENST00000371375.1:c.4309C= ENSP00000360426.1:p.Leu1437=
ENST00000371380.7:c.5233C= ENSP00000360431.2:p.Leu1745=
ENST00000371385.7:c.4309C= ENSP00000360438.3:p.Leu1437=
NM_001165979.2:c.4309C= NP_001159451.1:p.Leu1437=
NM_001288989.1:c.5185C= NP_001275918.1:p.Leu1729=
NM_016341.3:c.5233C= NP_057425.3:p.Leu1745=
XM_006717885.2:c.5275C= XP_006717948.1:p.Leu1759=
XM_006717886.2:c.5275C= XP_006717949.1:p.Leu1759=
XM_006717888.2:c.5272C= XP_006717951.1:p.Leu1758=
XM_006717889.2:c.5227C= XP_006717952.1:p.Leu1743=
XM_006717890.1:c.4351C= XP_006717953.1:p.Leu1451=
XM_011539849.1:c.5275C= XP_011538151.1:p.Leu1759=
XM_011539850.1:c.4120C= XP_011538152.1:p.Leu1374=
XM_006717885.4:c.5275C= XP_006717948.1:p.Leu1759=
XM_006717888.4:c.5272C= XP_006717951.1:p.Leu1758=
XM_006717889.4:c.5227C= XP_006717952.1:p.Leu1743=
XM_006717890.3:c.4351C= XP_006717953.1:p.Leu1451=
XM_011539849.3:c.5275C= XP_011538151.1:p.Leu1759=
XM_011539850.3:c.4120C= XP_011538152.1:p.Leu1374=
XM_017016310.2:c.5275C= XP_016871799.1:p.Leu1759=
XM_017016311.2:c.5275C= XP_016871800.1:p.Leu1759=
XM_017016312.2:c.4261C= XP_016871801.1:p.Leu1421=
NM_001288989.2:c.5185C= NP_001275918.1:p.Leu1729=
NM_016341.4:c.5233C= MANE Select NP_057425.3:p.Leu1745=