Canonical Allele Identifier: CA377648491

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94322020A>T , CM000672.2:g.94322020A>T GRCh38
NC_000010.10:g.96081777A>T , CM000672.1:g.96081777A>T GRCh37
NC_000010.9:g.96071767A>T NCBI36
NG_015799.1:g.333032A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5538A>T (PLCE1) ENSP00000360426.1:p.Lys1846Asn
ENST00000685132.1:n.3861A>T (PLCE1)
ENST00000685253.1:c.*3005A>T (PLCE1) ENSP00000509405.1:n.*3005A>T
ENST00000685889.1:n.3197A>T (PLCE1)
ENST00000686807.1:n.1881A>T (PLCE1)
ENST00000686954.1:c.*1746A>T (PLCE1) ENSP00000508416.1:n.*1746A>T
ENST00000688810.1:c.5490A>T (PLCE1) ENSP00000509140.1:p.Lys1830Asn
ENST00000689233.1:n.10670A>T (PLCE1)
ENST00000690340.1:n.4135A>T (PLCE1)
ENST00000692286.1:c.6330A>T (PLCE1) ENSP00000509490.1:p.Lys2110Asn
ENST00000692396.1:c.6414A>T (PLCE1) ENSP00000508605.1:p.Lys2138Asn
ENST00000371380.8:c.6462A>T (PLCE1) MANE Select ENSP00000360431.2:p.Lys2154Asn
ENST00000371385.8:c.5436A>T (PLCE1) ENSP00000360438.4:p.Lys1812Asn
ENST00000674738.1:c.5017A>T (PLCE1)
ENST00000674827.1:c.4578A>T (PLCE1) ENSP00000502523.1:p.Lys1526Asn
ENST00000675218.1:c.5538A>T (PLCE1) ENSP00000501910.1:p.Lys1846Asn
ENST00000675487.1:c.*2395A>T (PLCE1) ENSP00000502340.1:n.*2395A>T
ENST00000675718.1:c.5731A>T (PLCE1)
ENST00000260766.7:c.6462A>T (PLCE1) ENSP00000260766.3:p.Lys2154Asn
ENST00000371375.1:c.5538A>T (PLCE1) ENSP00000360426.1:p.Lys1846Asn
ENST00000371380.7:c.6462A>T (PLCE1) ENSP00000360431.2:p.Lys2154Asn
ENST00000371385.7:c.5538A>T (PLCE1) ENSP00000360438.3:p.Lys1846Asn
NM_001165979.2:c.5538A>T (PLCE1) NP_001159451.1:p.Lys1846Asn
NM_001288989.1:c.6414A>T (PLCE1) NP_001275918.1:p.Lys2138Asn
NM_016341.3:c.6462A>T (PLCE1) NP_057425.3:p.Lys2154Asn
XM_006717885.2:c.6504A>T (PLCE1) XP_006717948.1:p.Lys2168Asn
XM_006717886.2:c.6504A>T (PLCE1) XP_006717949.1:p.Lys2168Asn
XM_006717888.2:c.6501A>T (PLCE1) XP_006717951.1:p.Lys2167Asn
XM_006717889.2:c.6456A>T (PLCE1) XP_006717952.1:p.Lys2152Asn
XM_006717890.1:c.5580A>T (PLCE1) XP_006717953.1:p.Lys1860Asn
XM_011539849.1:c.6504A>T (PLCE1) XP_011538151.1:p.Lys2168Asn
XM_011539850.1:c.5349A>T (PLCE1) XP_011538152.1:p.Lys1783Asn
XR_945799.1:n.3311-6556T>A (NOC3L)
XM_006717885.4:c.6504A>T (PLCE1) XP_006717948.1:p.Lys2168Asn
XM_006717888.4:c.6501A>T (PLCE1) XP_006717951.1:p.Lys2167Asn
XM_006717889.4:c.6456A>T (PLCE1) XP_006717952.1:p.Lys2152Asn
XM_006717890.3:c.5580A>T (PLCE1) XP_006717953.1:p.Lys1860Asn
XM_011539849.3:c.6504A>T (PLCE1) XP_011538151.1:p.Lys2168Asn
XM_011539850.3:c.5349A>T (PLCE1) XP_011538152.1:p.Lys1783Asn
XM_017016310.2:c.6504A>T (PLCE1) XP_016871799.1:p.Lys2168Asn
XM_017016311.2:c.6504A>T (PLCE1) XP_016871800.1:p.Lys2168Asn
XM_017016312.2:c.5490A>T (PLCE1) XP_016871801.1:p.Lys1830Asn
XR_002957007.1:n.3312-6556T>A (NOC3L)
NM_001288989.2:c.6414A>T (PLCE1) NP_001275918.1:p.Lys2138Asn
NM_016341.4:c.6462A>T (PLCE1) MANE Select NP_057425.3:p.Lys2154Asn