Canonical Allele Identifier: CA377648128

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94321917A>T , CM000672.2:g.94321917A>T GRCh38
NC_000010.10:g.96081674A>T , CM000672.1:g.96081674A>T GRCh37
NC_000010.9:g.96071664A>T NCBI36
NG_015799.1:g.332929A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.5435A>T (PLCE1) ENSP00000360426.1:p.Asn1812Ile
ENST00000685132.1:n.3758A>T (PLCE1)
ENST00000685253.1:c.*2902A>T (PLCE1) ENSP00000509405.1:n.*2902A>T
ENST00000685889.1:n.3094A>T (PLCE1)
ENST00000686807.1:n.1778A>T (PLCE1)
ENST00000686954.1:c.*1643A>T (PLCE1) ENSP00000508416.1:n.*1643A>T
ENST00000688810.1:c.5387A>T (PLCE1) ENSP00000509140.1:p.Asn1796Ile
ENST00000689233.1:n.10567A>T (PLCE1)
ENST00000690340.1:n.4032A>T (PLCE1)
ENST00000692286.1:c.6227A>T (PLCE1) ENSP00000509490.1:p.Asn2076Ile
ENST00000692396.1:c.6311A>T (PLCE1) ENSP00000508605.1:p.Asn2104Ile
ENST00000371380.8:c.6359A>T (PLCE1) MANE Select ENSP00000360431.2:p.Asn2120Ile
ENST00000371385.8:c.5333A>T (PLCE1) ENSP00000360438.4:p.Asn1778Ile
ENST00000674738.1:c.4914A>T (PLCE1)
ENST00000674827.1:c.4475A>T (PLCE1) ENSP00000502523.1:p.Asn1492Ile
ENST00000675218.1:c.5435A>T (PLCE1) ENSP00000501910.1:p.Asn1812Ile
ENST00000675487.1:c.*2292A>T (PLCE1) ENSP00000502340.1:n.*2292A>T
ENST00000675718.1:c.5628A>T (PLCE1)
ENST00000260766.7:c.6359A>T (PLCE1) ENSP00000260766.3:p.Asn2120Ile
ENST00000371375.1:c.5435A>T (PLCE1) ENSP00000360426.1:p.Asn1812Ile
ENST00000371380.7:c.6359A>T (PLCE1) ENSP00000360431.2:p.Asn2120Ile
ENST00000371385.7:c.5435A>T (PLCE1) ENSP00000360438.3:p.Asn1812Ile
NM_001165979.2:c.5435A>T (PLCE1) NP_001159451.1:p.Asn1812Ile
NM_001288989.1:c.6311A>T (PLCE1) NP_001275918.1:p.Asn2104Ile
NM_016341.3:c.6359A>T (PLCE1) NP_057425.3:p.Asn2120Ile
XM_006717885.2:c.6401A>T (PLCE1) XP_006717948.1:p.Asn2134Ile
XM_006717886.2:c.6401A>T (PLCE1) XP_006717949.1:p.Asn2134Ile
XM_006717888.2:c.6398A>T (PLCE1) XP_006717951.1:p.Asn2133Ile
XM_006717889.2:c.6353A>T (PLCE1) XP_006717952.1:p.Asn2118Ile
XM_006717890.1:c.5477A>T (PLCE1) XP_006717953.1:p.Asn1826Ile
XM_011539849.1:c.6401A>T (PLCE1) XP_011538151.1:p.Asn2134Ile
XM_011539850.1:c.5246A>T (PLCE1) XP_011538152.1:p.Asn1749Ile
XR_945799.1:n.3311-6453T>A (NOC3L)
XM_006717885.4:c.6401A>T (PLCE1) XP_006717948.1:p.Asn2134Ile
XM_006717888.4:c.6398A>T (PLCE1) XP_006717951.1:p.Asn2133Ile
XM_006717889.4:c.6353A>T (PLCE1) XP_006717952.1:p.Asn2118Ile
XM_006717890.3:c.5477A>T (PLCE1) XP_006717953.1:p.Asn1826Ile
XM_011539849.3:c.6401A>T (PLCE1) XP_011538151.1:p.Asn2134Ile
XM_011539850.3:c.5246A>T (PLCE1) XP_011538152.1:p.Asn1749Ile
XM_017016310.2:c.6401A>T (PLCE1) XP_016871799.1:p.Asn2134Ile
XM_017016311.2:c.6401A>T (PLCE1) XP_016871800.1:p.Asn2134Ile
XM_017016312.2:c.5387A>T (PLCE1) XP_016871801.1:p.Asn1796Ile
XR_002957007.1:n.3312-6453T>A (NOC3L)
NM_001288989.2:c.6311A>T (PLCE1) NP_001275918.1:p.Asn2104Ile
NM_016341.4:c.6359A>T (PLCE1) MANE Select NP_057425.3:p.Asn2120Ile