Canonical Allele Identifier: CA377641758
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298430A>T , CM000672.2:g.94298430A>T GRCh38
NC_000010.10:g.96058187A>T , CM000672.1:g.96058187A>T GRCh37
NC_000010.9:g.96048177A>T NCBI36
NG_015799.1:g.309442A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4295A>T ENSP00000360426.1:p.Asn1432Ile
ENST00000685253.1:c.*1762A>T ENSP00000509405.1:n.*1762A>T
ENST00000685889.1:n.1954A>T
ENST00000686807.1:n.638A>T
ENST00000686954.1:c.*503A>T ENSP00000508416.1:n.*503A>T
ENST00000688810.1:c.4247A>T ENSP00000509140.1:p.Asn1416Ile
ENST00000689233.1:n.9427A>T
ENST00000690340.1:n.2892A>T
ENST00000692286.1:c.5087A>T ENSP00000509490.1:p.Asn1696Ile
ENST00000692396.1:c.5171A>T ENSP00000508605.1:p.Asn1724Ile
ENST00000371380.8:c.5219A>T MANE Select ENSP00000360431.2:p.Asn1740Ile
ENST00000371385.8:c.4193A>T ENSP00000360438.4:p.Asn1398Ile
ENST00000674738.1:c.3774A>T
ENST00000674827.1:c.3335A>T ENSP00000502523.1:p.Asn1112Ile
ENST00000675218.1:c.4295A>T ENSP00000501910.1:p.Asn1432Ile
ENST00000675487.1:c.*1152A>T ENSP00000502340.1:n.*1152A>T
ENST00000675718.1:c.4488A>T
ENST00000676102.1:c.4064A>T ENSP00000502811.1:p.Asn1355Ile
ENST00000260766.7:c.5219A>T ENSP00000260766.3:p.Asn1740Ile
ENST00000371375.1:c.4295A>T ENSP00000360426.1:p.Asn1432Ile
ENST00000371380.7:c.5219A>T ENSP00000360431.2:p.Asn1740Ile
ENST00000371385.7:c.4295A>T ENSP00000360438.3:p.Asn1432Ile
NM_001165979.2:c.4295A>T NP_001159451.1:p.Asn1432Ile
NM_001288989.1:c.5171A>T NP_001275918.1:p.Asn1724Ile
NM_016341.3:c.5219A>T NP_057425.3:p.Asn1740Ile
XM_006717885.2:c.5261A>T XP_006717948.1:p.Asn1754Ile
XM_006717886.2:c.5261A>T XP_006717949.1:p.Asn1754Ile
XM_006717888.2:c.5258A>T XP_006717951.1:p.Asn1753Ile
XM_006717889.2:c.5213A>T XP_006717952.1:p.Asn1738Ile
XM_006717890.1:c.4337A>T XP_006717953.1:p.Asn1446Ile
XM_011539849.1:c.5261A>T XP_011538151.1:p.Asn1754Ile
XM_011539850.1:c.4106A>T XP_011538152.1:p.Asn1369Ile
XM_006717885.4:c.5261A>T XP_006717948.1:p.Asn1754Ile
XM_006717888.4:c.5258A>T XP_006717951.1:p.Asn1753Ile
XM_006717889.4:c.5213A>T XP_006717952.1:p.Asn1738Ile
XM_006717890.3:c.4337A>T XP_006717953.1:p.Asn1446Ile
XM_011539849.3:c.5261A>T XP_011538151.1:p.Asn1754Ile
XM_011539850.3:c.4106A>T XP_011538152.1:p.Asn1369Ile
XM_017016310.2:c.5261A>T XP_016871799.1:p.Asn1754Ile
XM_017016311.2:c.5261A>T XP_016871800.1:p.Asn1754Ile
XM_017016312.2:c.4247A>T XP_016871801.1:p.Asn1416Ile
NM_001288989.2:c.5171A>T NP_001275918.1:p.Asn1724Ile
NM_016341.4:c.5219A>T MANE Select NP_057425.3:p.Asn1740Ile