Canonical Allele Identifier: CA377640624
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94293559G>A , CM000672.2:g.94293559G>A GRCh38
NC_000010.10:g.96053316G>A , CM000672.1:g.96053316G>A GRCh37
NC_000010.9:g.96043306G>A NCBI36
NG_015799.1:g.304571G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4163G>A ENSP00000360426.1:p.Ser1388Asn
ENST00000685253.1:c.*1630G>A ENSP00000509405.1:n.*1630G>A
ENST00000685889.1:n.1822G>A
ENST00000686807.1:n.506G>A
ENST00000686954.1:c.*371G>A ENSP00000508416.1:n.*371G>A
ENST00000688810.1:c.4115G>A ENSP00000509140.1:p.Ser1372Asn
ENST00000689233.1:n.9295G>A
ENST00000690340.1:n.2760G>A
ENST00000692286.1:c.5036-4820G>A ENSP00000509490.1:n.5036-4820G>A
ENST00000692396.1:c.5039G>A ENSP00000508605.1:p.Ser1680Asn
ENST00000371380.8:c.5087G>A MANE Select ENSP00000360431.2:p.Ser1696Asn
ENST00000371385.8:c.4061G>A ENSP00000360438.4:p.Ser1354Asn
ENST00000674738.1:c.3642G>A
ENST00000674827.1:c.3203G>A ENSP00000502523.1:p.Ser1068Asn
ENST00000675218.1:c.4163G>A ENSP00000501910.1:p.Ser1388Asn
ENST00000675487.1:c.*1020G>A ENSP00000502340.1:n.*1020G>A
ENST00000675718.1:c.4356G>A
ENST00000676102.1:c.3932G>A ENSP00000502811.1:p.Ser1311Asn
ENST00000260766.7:c.5087G>A ENSP00000260766.3:p.Ser1696Asn
ENST00000371375.1:c.4163G>A ENSP00000360426.1:p.Ser1388Asn
ENST00000371380.7:c.5087G>A ENSP00000360431.2:p.Ser1696Asn
ENST00000371385.7:c.4163G>A ENSP00000360438.3:p.Ser1388Asn
NM_001165979.2:c.4163G>A NP_001159451.1:p.Ser1388Asn
NM_001288989.1:c.5039G>A NP_001275918.1:p.Ser1680Asn
NM_016341.3:c.5087G>A NP_057425.3:p.Ser1696Asn
XM_006717885.2:c.5129G>A XP_006717948.1:p.Ser1710Asn
XM_006717886.2:c.5129G>A XP_006717949.1:p.Ser1710Asn
XM_006717888.2:c.5126G>A XP_006717951.1:p.Ser1709Asn
XM_006717889.2:c.5081G>A XP_006717952.1:p.Ser1694Asn
XM_006717890.1:c.4205G>A XP_006717953.1:p.Ser1402Asn
XM_011539849.1:c.5129G>A XP_011538151.1:p.Ser1710Asn
XM_011539850.1:c.3974G>A XP_011538152.1:p.Ser1325Asn
XM_006717885.4:c.5129G>A XP_006717948.1:p.Ser1710Asn
XM_006717888.4:c.5126G>A XP_006717951.1:p.Ser1709Asn
XM_006717889.4:c.5081G>A XP_006717952.1:p.Ser1694Asn
XM_006717890.3:c.4205G>A XP_006717953.1:p.Ser1402Asn
XM_011539849.3:c.5129G>A XP_011538151.1:p.Ser1710Asn
XM_011539850.3:c.3974G>A XP_011538152.1:p.Ser1325Asn
XM_017016310.2:c.5129G>A XP_016871799.1:p.Ser1710Asn
XM_017016311.2:c.5129G>A XP_016871800.1:p.Ser1710Asn
XM_017016312.2:c.4115G>A XP_016871801.1:p.Ser1372Asn
NM_001288989.2:c.5039G>A NP_001275918.1:p.Ser1680Asn
NM_016341.4:c.5087G>A MANE Select NP_057425.3:p.Ser1696Asn