Canonical Allele Identifier: CA377648123

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94321915A>T , CM000672.2:g.94321915A>T GRCh38
NC_000010.10:g.96081672A>T , CM000672.1:g.96081672A>T GRCh37
NC_000010.9:g.96071662A>T NCBI36
NG_015799.1:g.332927A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.5433A>T (PLCE1) ENSP00000360426.1:p.Lys1811Asn
ENST00000685132.1:n.3756A>T (PLCE1)
ENST00000685253.1:c.*2900A>T (PLCE1) ENSP00000509405.1:n.*2900A>T
ENST00000685889.1:n.3092A>T (PLCE1)
ENST00000686807.1:n.1776A>T (PLCE1)
ENST00000686954.1:c.*1641A>T (PLCE1) ENSP00000508416.1:n.*1641A>T
ENST00000688810.1:c.5385A>T (PLCE1) ENSP00000509140.1:p.Lys1795Asn
ENST00000689233.1:n.10565A>T (PLCE1)
ENST00000690340.1:n.4030A>T (PLCE1)
ENST00000692286.1:c.6225A>T (PLCE1) ENSP00000509490.1:p.Lys2075Asn
ENST00000692396.1:c.6309A>T (PLCE1) ENSP00000508605.1:p.Lys2103Asn
ENST00000371380.8:c.6357A>T (PLCE1) MANE Select ENSP00000360431.2:p.Lys2119Asn
ENST00000371385.8:c.5331A>T (PLCE1) ENSP00000360438.4:p.Lys1777Asn
ENST00000674738.1:c.4912A>T (PLCE1)
ENST00000674827.1:c.4473A>T (PLCE1) ENSP00000502523.1:p.Lys1491Asn
ENST00000675218.1:c.5433A>T (PLCE1) ENSP00000501910.1:p.Lys1811Asn
ENST00000675487.1:c.*2290A>T (PLCE1) ENSP00000502340.1:n.*2290A>T
ENST00000675718.1:c.5626A>T (PLCE1)
ENST00000260766.7:c.6357A>T (PLCE1) ENSP00000260766.3:p.Lys2119Asn
ENST00000371375.1:c.5433A>T (PLCE1) ENSP00000360426.1:p.Lys1811Asn
ENST00000371380.7:c.6357A>T (PLCE1) ENSP00000360431.2:p.Lys2119Asn
ENST00000371385.7:c.5433A>T (PLCE1) ENSP00000360438.3:p.Lys1811Asn
NM_001165979.2:c.5433A>T (PLCE1) NP_001159451.1:p.Lys1811Asn
NM_001288989.1:c.6309A>T (PLCE1) NP_001275918.1:p.Lys2103Asn
NM_016341.3:c.6357A>T (PLCE1) NP_057425.3:p.Lys2119Asn
XM_006717885.2:c.6399A>T (PLCE1) XP_006717948.1:p.Lys2133Asn
XM_006717886.2:c.6399A>T (PLCE1) XP_006717949.1:p.Lys2133Asn
XM_006717888.2:c.6396A>T (PLCE1) XP_006717951.1:p.Lys2132Asn
XM_006717889.2:c.6351A>T (PLCE1) XP_006717952.1:p.Lys2117Asn
XM_006717890.1:c.5475A>T (PLCE1) XP_006717953.1:p.Lys1825Asn
XM_011539849.1:c.6399A>T (PLCE1) XP_011538151.1:p.Lys2133Asn
XM_011539850.1:c.5244A>T (PLCE1) XP_011538152.1:p.Lys1748Asn
XR_945799.1:n.3311-6451T>A (NOC3L)
XM_006717885.4:c.6399A>T (PLCE1) XP_006717948.1:p.Lys2133Asn
XM_006717888.4:c.6396A>T (PLCE1) XP_006717951.1:p.Lys2132Asn
XM_006717889.4:c.6351A>T (PLCE1) XP_006717952.1:p.Lys2117Asn
XM_006717890.3:c.5475A>T (PLCE1) XP_006717953.1:p.Lys1825Asn
XM_011539849.3:c.6399A>T (PLCE1) XP_011538151.1:p.Lys2133Asn
XM_011539850.3:c.5244A>T (PLCE1) XP_011538152.1:p.Lys1748Asn
XM_017016310.2:c.6399A>T (PLCE1) XP_016871799.1:p.Lys2133Asn
XM_017016311.2:c.6399A>T (PLCE1) XP_016871800.1:p.Lys2133Asn
XM_017016312.2:c.5385A>T (PLCE1) XP_016871801.1:p.Lys1795Asn
XR_002957007.1:n.3312-6451T>A (NOC3L)
NM_001288989.2:c.6309A>T (PLCE1) NP_001275918.1:p.Lys2103Asn
NM_016341.4:c.6357A>T (PLCE1) MANE Select NP_057425.3:p.Lys2119Asn