Canonical Allele Identifier: CA377648134

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94321920T>A , CM000672.2:g.94321920T>A GRCh38
NC_000010.10:g.96081677T>A , CM000672.1:g.96081677T>A GRCh37
NC_000010.9:g.96071667T>A NCBI36
NG_015799.1:g.332932T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.5438T>A (PLCE1) ENSP00000360426.1:p.Ile1813Asn
ENST00000685132.1:n.3761T>A (PLCE1)
ENST00000685253.1:c.*2905T>A (PLCE1) ENSP00000509405.1:n.*2905T>A
ENST00000685889.1:n.3097T>A (PLCE1)
ENST00000686807.1:n.1781T>A (PLCE1)
ENST00000686954.1:c.*1646T>A (PLCE1) ENSP00000508416.1:n.*1646T>A
ENST00000688810.1:c.5390T>A (PLCE1) ENSP00000509140.1:p.Ile1797Asn
ENST00000689233.1:n.10570T>A (PLCE1)
ENST00000690340.1:n.4035T>A (PLCE1)
ENST00000692286.1:c.6230T>A (PLCE1) ENSP00000509490.1:p.Ile2077Asn
ENST00000692396.1:c.6314T>A (PLCE1) ENSP00000508605.1:p.Ile2105Asn
ENST00000371380.8:c.6362T>A (PLCE1) MANE Select ENSP00000360431.2:p.Ile2121Asn
ENST00000371385.8:c.5336T>A (PLCE1) ENSP00000360438.4:p.Ile1779Asn
ENST00000674738.1:c.4917T>A (PLCE1)
ENST00000674827.1:c.4478T>A (PLCE1) ENSP00000502523.1:p.Ile1493Asn
ENST00000675218.1:c.5438T>A (PLCE1) ENSP00000501910.1:p.Ile1813Asn
ENST00000675487.1:c.*2295T>A (PLCE1) ENSP00000502340.1:n.*2295T>A
ENST00000675718.1:c.5631T>A (PLCE1)
ENST00000260766.7:c.6362T>A (PLCE1) ENSP00000260766.3:p.Ile2121Asn
ENST00000371375.1:c.5438T>A (PLCE1) ENSP00000360426.1:p.Ile1813Asn
ENST00000371380.7:c.6362T>A (PLCE1) ENSP00000360431.2:p.Ile2121Asn
ENST00000371385.7:c.5438T>A (PLCE1) ENSP00000360438.3:p.Ile1813Asn
NM_001165979.2:c.5438T>A (PLCE1) NP_001159451.1:p.Ile1813Asn
NM_001288989.1:c.6314T>A (PLCE1) NP_001275918.1:p.Ile2105Asn
NM_016341.3:c.6362T>A (PLCE1) NP_057425.3:p.Ile2121Asn
XM_006717885.2:c.6404T>A (PLCE1) XP_006717948.1:p.Ile2135Asn
XM_006717886.2:c.6404T>A (PLCE1) XP_006717949.1:p.Ile2135Asn
XM_006717888.2:c.6401T>A (PLCE1) XP_006717951.1:p.Ile2134Asn
XM_006717889.2:c.6356T>A (PLCE1) XP_006717952.1:p.Ile2119Asn
XM_006717890.1:c.5480T>A (PLCE1) XP_006717953.1:p.Ile1827Asn
XM_011539849.1:c.6404T>A (PLCE1) XP_011538151.1:p.Ile2135Asn
XM_011539850.1:c.5249T>A (PLCE1) XP_011538152.1:p.Ile1750Asn
XR_945799.1:n.3311-6456A>T (NOC3L)
XM_006717885.4:c.6404T>A (PLCE1) XP_006717948.1:p.Ile2135Asn
XM_006717888.4:c.6401T>A (PLCE1) XP_006717951.1:p.Ile2134Asn
XM_006717889.4:c.6356T>A (PLCE1) XP_006717952.1:p.Ile2119Asn
XM_006717890.3:c.5480T>A (PLCE1) XP_006717953.1:p.Ile1827Asn
XM_011539849.3:c.6404T>A (PLCE1) XP_011538151.1:p.Ile2135Asn
XM_011539850.3:c.5249T>A (PLCE1) XP_011538152.1:p.Ile1750Asn
XM_017016310.2:c.6404T>A (PLCE1) XP_016871799.1:p.Ile2135Asn
XM_017016311.2:c.6404T>A (PLCE1) XP_016871800.1:p.Ile2135Asn
XM_017016312.2:c.5390T>A (PLCE1) XP_016871801.1:p.Ile1797Asn
XR_002957007.1:n.3312-6456A>T (NOC3L)
NM_001288989.2:c.6314T>A (PLCE1) NP_001275918.1:p.Ile2105Asn
NM_016341.4:c.6362T>A (PLCE1) MANE Select NP_057425.3:p.Ile2121Asn