Canonical Allele Identifier: CA377648481
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94270541T>C , CM000672.2:g.94270541T>C GRCh38
NC_000010.10:g.96030298T>C , CM000672.1:g.96030298T>C GRCh37
NC_000010.9:g.96020288T>C NCBI36
NG_015799.1:g.281553T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.3521T>C ENSP00000360426.1:p.Ile1174Thr
ENST00000685253.1:c.*988T>C ENSP00000509405.1:n.*988T>C
ENST00000685889.1:n.1180T>C
ENST00000686954.1:c.4445T>C ENSP00000508416.1:p.Ile1482Thr
ENST00000688810.1:c.3473T>C ENSP00000509140.1:p.Ile1158Thr
ENST00000689233.1:n.4775T>C
ENST00000692286.1:c.4445T>C ENSP00000509490.1:p.Ile1482Thr
ENST00000692396.1:c.4397T>C ENSP00000508605.1:p.Ile1466Thr
ENST00000371380.8:c.4445T>C MANE Select ENSP00000360431.2:p.Ile1482Thr
ENST00000371385.8:c.3419T>C ENSP00000360438.4:p.Ile1140Thr
ENST00000674738.1:c.2850T>C
ENST00000674827.1:c.2522T>C ENSP00000502523.1:p.Ile841Thr
ENST00000675218.1:c.3521T>C ENSP00000501910.1:p.Ile1174Thr
ENST00000675487.1:c.*378T>C ENSP00000502340.1:n.*378T>C
ENST00000675718.1:c.3672T>C
ENST00000676102.1:c.3290T>C ENSP00000502811.1:p.Ile1097Thr
ENST00000260766.7:c.4445T>C ENSP00000260766.3:p.Ile1482Thr
ENST00000371375.1:c.3521T>C ENSP00000360426.1:p.Ile1174Thr
ENST00000371380.7:c.4445T>C ENSP00000360431.2:p.Ile1482Thr
ENST00000371385.7:c.3521T>C ENSP00000360438.3:p.Ile1174Thr
NM_001165979.2:c.3521T>C NP_001159451.1:p.Ile1174Thr
NM_001288989.1:c.4397T>C NP_001275918.1:p.Ile1466Thr
NM_016341.3:c.4445T>C NP_057425.3:p.Ile1482Thr
XM_006717885.2:c.4445T>C XP_006717948.1:p.Ile1482Thr
XM_006717886.2:c.4445T>C XP_006717949.1:p.Ile1482Thr
XM_006717888.2:c.4445T>C XP_006717951.1:p.Ile1482Thr
XM_006717889.2:c.4397T>C XP_006717952.1:p.Ile1466Thr
XM_006717890.1:c.3521T>C XP_006717953.1:p.Ile1174Thr
XM_011539849.1:c.4445T>C XP_011538151.1:p.Ile1482Thr
XM_011539850.1:c.3290T>C XP_011538152.1:p.Ile1097Thr
XM_011539851.1:c.4445T>C XP_011538153.1:p.Ile1482Thr
XM_011539852.1:c.4445T>C XP_011538154.1:p.Ile1482Thr
XM_006717885.4:c.4445T>C XP_006717948.1:p.Ile1482Thr
XM_006717888.4:c.4445T>C XP_006717951.1:p.Ile1482Thr
XM_006717889.4:c.4397T>C XP_006717952.1:p.Ile1466Thr
XM_006717890.3:c.3521T>C XP_006717953.1:p.Ile1174Thr
XM_011539849.3:c.4445T>C XP_011538151.1:p.Ile1482Thr
XM_011539850.3:c.3290T>C XP_011538152.1:p.Ile1097Thr
XM_011539851.3:c.4445T>C XP_011538153.1:p.Ile1482Thr
XM_011539852.3:c.4445T>C XP_011538154.1:p.Ile1482Thr
XM_017016310.2:c.4445T>C XP_016871799.1:p.Ile1482Thr
XM_017016311.2:c.4445T>C XP_016871800.1:p.Ile1482Thr
XM_017016312.2:c.3473T>C XP_016871801.1:p.Ile1158Thr
NM_001288989.2:c.4397T>C NP_001275918.1:p.Ile1466Thr
NM_016341.4:c.4445T>C MANE Select NP_057425.3:p.Ile1482Thr