Canonical Allele Identifier: CA377642012
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298547A>T , CM000672.2:g.94298547A>T GRCh38
NC_000010.10:g.96058304A>T , CM000672.1:g.96058304A>T GRCh37
NC_000010.9:g.96048294A>T NCBI36
NG_015799.1:g.309559A>T

Transcript Alleles

HGVS Amino-acid change
NM_001165979.2:c.4412A>T NP_001159451.1:p.His1471Leu
NM_001288989.1:c.5288A>T NP_001275918.1:p.His1763Leu
NM_016341.3:c.5336A>T NP_057425.3:p.His1779Leu
XM_006717885.2:c.5378A>T XP_006717948.1:p.His1793Leu
XM_006717886.2:c.5378A>T XP_006717949.1:p.His1793Leu
XM_006717888.2:c.5375A>T XP_006717951.1:p.His1792Leu
XM_006717889.2:c.5330A>T XP_006717952.1:p.His1777Leu
XM_006717890.1:c.4454A>T XP_006717953.1:p.His1485Leu
XM_011539849.1:c.5378A>T XP_011538151.1:p.His1793Leu
XM_011539850.1:c.4223A>T XP_011538152.1:p.His1408Leu
XM_006717885.4:c.5378A>T XP_006717948.1:p.His1793Leu
XM_006717888.4:c.5375A>T XP_006717951.1:p.His1792Leu
XM_006717889.4:c.5330A>T XP_006717952.1:p.His1777Leu
XM_006717890.3:c.4454A>T XP_006717953.1:p.His1485Leu
XM_011539849.3:c.5378A>T XP_011538151.1:p.His1793Leu
XM_011539850.3:c.4223A>T XP_011538152.1:p.His1408Leu
XM_017016310.2:c.5378A>T XP_016871799.1:p.His1793Leu
XM_017016311.2:c.5378A>T XP_016871800.1:p.His1793Leu
XM_017016312.2:c.4364A>T XP_016871801.1:p.His1455Leu
NM_001288989.2:c.5288A>T NP_001275918.1:p.His1763Leu
NM_016341.4:c.5336A>T MANE Select NP_057425.3:p.His1779Leu
ENST00000260766.7:c.5336A>T ENSP00000260766.3:p.His1779Leu
ENST00000371375.1:n.4412A>T ENSP00000360426.1:p.His1471Leu
ENST00000371380.7:c.5336A>T ENSP00000360431.2:p.His1779Leu
ENST00000371385.7:c.4412A>T ENSP00000360438.3:p.His1471Leu