Canonical Allele Identifier: CA377642075
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298579G>A , CM000672.2:g.94298579G>A GRCh38
NC_000010.10:g.96058336G>A , CM000672.1:g.96058336G>A GRCh37
NC_000010.9:g.96048326G>A NCBI36
NG_015799.1:g.309591G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:n.4444G>A ENSP00000360426.1:p.Ala1482Thr
ENST00000685253.1:c.*1911G>A ENSP00000509405.1:n.*1911G>A
ENST00000685889.1:n.2103G>A
ENST00000686807.1:n.787G>A
ENST00000686954.1:c.*652G>A ENSP00000508416.1:n.*652G>A
ENST00000688810.1:n.4396G>A ENSP00000509140.1:p.Ala1466Thr
ENST00000689233.1:n.9576G>A
ENST00000690340.1:n.3041G>A
ENST00000692286.1:c.5236G>A ENSP00000509490.1:p.Ala1746Thr
ENST00000692396.1:c.5320G>A ENSP00000508605.1:p.Ala1774Thr
ENST00000371380.8:c.5368G>A MANE Select ENSP00000360431.2:p.Ala1790Thr
ENST00000371385.8:c.4342G>A ENSP00000360438.4:p.Ala1448Thr
ENST00000674738.1:n.3923G>A
ENST00000674827.1:n.3484G>A ENSP00000502523.1:p.Ala1162Thr
ENST00000675218.1:n.4444G>A ENSP00000501910.1:p.Ala1482Thr
ENST00000675487.1:c.*1301G>A ENSP00000502340.1:n.*1301G>A
ENST00000675718.1:n.4637G>A
ENST00000260766.7:c.5368G>A ENSP00000260766.3:p.Ala1790Thr
ENST00000371375.1:n.4444G>A ENSP00000360426.1:p.Ala1482Thr
ENST00000371380.7:c.5368G>A ENSP00000360431.2:p.Ala1790Thr
ENST00000371385.7:c.4444G>A ENSP00000360438.3:p.Ala1482Thr
NM_001165979.2:c.4444G>A NP_001159451.1:p.Ala1482Thr
NM_001288989.1:c.5320G>A NP_001275918.1:p.Ala1774Thr
NM_016341.3:c.5368G>A NP_057425.3:p.Ala1790Thr
XM_006717885.2:c.5410G>A XP_006717948.1:p.Ala1804Thr
XM_006717886.2:c.5410G>A XP_006717949.1:p.Ala1804Thr
XM_006717888.2:c.5407G>A XP_006717951.1:p.Ala1803Thr
XM_006717889.2:c.5362G>A XP_006717952.1:p.Ala1788Thr
XM_006717890.1:c.4486G>A XP_006717953.1:p.Ala1496Thr
XM_011539849.1:c.5410G>A XP_011538151.1:p.Ala1804Thr
XM_011539850.1:c.4255G>A XP_011538152.1:p.Ala1419Thr
XM_006717885.4:c.5410G>A XP_006717948.1:p.Ala1804Thr
XM_006717888.4:c.5407G>A XP_006717951.1:p.Ala1803Thr
XM_006717889.4:c.5362G>A XP_006717952.1:p.Ala1788Thr
XM_006717890.3:c.4486G>A XP_006717953.1:p.Ala1496Thr
XM_011539849.3:c.5410G>A XP_011538151.1:p.Ala1804Thr
XM_011539850.3:c.4255G>A XP_011538152.1:p.Ala1419Thr
XM_017016310.2:c.5410G>A XP_016871799.1:p.Ala1804Thr
XM_017016311.2:c.5410G>A XP_016871800.1:p.Ala1804Thr
XM_017016312.2:c.4396G>A XP_016871801.1:p.Ala1466Thr
NM_001288989.2:c.5320G>A NP_001275918.1:p.Ala1774Thr
NM_016341.4:c.5368G>A MANE Select NP_057425.3:p.Ala1790Thr