Canonical Allele Identifier: CA377648566

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94322036A>T , CM000672.2:g.94322036A>T GRCh38
NC_000010.10:g.96081793A>T , CM000672.1:g.96081793A>T GRCh37
NC_000010.9:g.96071783A>T NCBI36
NG_015799.1:g.333048A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5554A>T (PLCE1) ENSP00000360426.1:p.Thr1852Ser
ENST00000685253.1:c.*3021A>T (PLCE1) ENSP00000509405.1:n.*3021A>T
ENST00000685889.1:n.3213A>T (PLCE1)
ENST00000686807.1:n.1897A>T (PLCE1)
ENST00000686954.1:c.*1762A>T (PLCE1) ENSP00000508416.1:n.*1762A>T
ENST00000688810.1:c.5506A>T (PLCE1) ENSP00000509140.1:p.Thr1836Ser
ENST00000689233.1:n.10686A>T (PLCE1)
ENST00000690340.1:n.4151A>T (PLCE1)
ENST00000692286.1:c.6346A>T (PLCE1) ENSP00000509490.1:p.Thr2116Ser
ENST00000692396.1:c.6430A>T (PLCE1) ENSP00000508605.1:p.Thr2144Ser
ENST00000371380.8:c.6478A>T (PLCE1) MANE Select ENSP00000360431.2:p.Thr2160Ser
ENST00000371385.8:c.5452A>T (PLCE1) ENSP00000360438.4:p.Thr1818Ser
ENST00000675218.1:c.5554A>T (PLCE1) ENSP00000501910.1:p.Thr1852Ser
ENST00000675487.1:c.*2411A>T (PLCE1) ENSP00000502340.1:n.*2411A>T
ENST00000260766.7:c.6478A>T (PLCE1) ENSP00000260766.3:p.Thr2160Ser
ENST00000371375.1:c.5554A>T (PLCE1) ENSP00000360426.1:p.Thr1852Ser
ENST00000371380.7:c.6478A>T (PLCE1) ENSP00000360431.2:p.Thr2160Ser
ENST00000371385.7:c.5554A>T (PLCE1) ENSP00000360438.3:p.Thr1852Ser
NM_001165979.2:c.5554A>T (PLCE1) NP_001159451.1:p.Thr1852Ser
NM_001288989.1:c.6430A>T (PLCE1) NP_001275918.1:p.Thr2144Ser
NM_016341.3:c.6478A>T (PLCE1) NP_057425.3:p.Thr2160Ser
XM_006717885.2:c.6520A>T (PLCE1) XP_006717948.1:p.Thr2174Ser
XM_006717886.2:c.6520A>T (PLCE1) XP_006717949.1:p.Thr2174Ser
XM_006717888.2:c.6517A>T (PLCE1) XP_006717951.1:p.Thr2173Ser
XM_006717889.2:c.6472A>T (PLCE1) XP_006717952.1:p.Thr2158Ser
XM_006717890.1:c.5596A>T (PLCE1) XP_006717953.1:p.Thr1866Ser
XM_011539849.1:c.6520A>T (PLCE1) XP_011538151.1:p.Thr2174Ser
XM_011539850.1:c.5365A>T (PLCE1) XP_011538152.1:p.Thr1789Ser
XR_945799.1:n.3311-6572T>A (NOC3L)
XM_006717885.4:c.6520A>T (PLCE1) XP_006717948.1:p.Thr2174Ser
XM_006717888.4:c.6517A>T (PLCE1) XP_006717951.1:p.Thr2173Ser
XM_006717889.4:c.6472A>T (PLCE1) XP_006717952.1:p.Thr2158Ser
XM_006717890.3:c.5596A>T (PLCE1) XP_006717953.1:p.Thr1866Ser
XM_011539849.3:c.6520A>T (PLCE1) XP_011538151.1:p.Thr2174Ser
XM_011539850.3:c.5365A>T (PLCE1) XP_011538152.1:p.Thr1789Ser
XM_017016310.2:c.6520A>T (PLCE1) XP_016871799.1:p.Thr2174Ser
XM_017016311.2:c.6520A>T (PLCE1) XP_016871800.1:p.Thr2174Ser
XM_017016312.2:c.5506A>T (PLCE1) XP_016871801.1:p.Thr1836Ser
XR_002957007.1:n.3312-6572T>A (NOC3L)
NM_001288989.2:c.6430A>T (PLCE1) NP_001275918.1:p.Thr2144Ser
NM_016341.4:c.6478A>T (PLCE1) MANE Select NP_057425.3:p.Thr2160Ser