Canonical Allele Identifier: CA377648455

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94322012G>T , CM000672.2:g.94322012G>T GRCh38
NC_000010.10:g.96081769G>T , CM000672.1:g.96081769G>T GRCh37
NC_000010.9:g.96071759G>T NCBI36
NG_015799.1:g.333024G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5530G>T (PLCE1) ENSP00000360426.1:p.Val1844Phe
ENST00000685132.1:n.3853G>T (PLCE1)
ENST00000685253.1:c.*2997G>T (PLCE1) ENSP00000509405.1:n.*2997G>T
ENST00000685889.1:n.3189G>T (PLCE1)
ENST00000686807.1:n.1873G>T (PLCE1)
ENST00000686954.1:c.*1738G>T (PLCE1) ENSP00000508416.1:n.*1738G>T
ENST00000688810.1:c.5482G>T (PLCE1) ENSP00000509140.1:p.Val1828Phe
ENST00000689233.1:n.10662G>T (PLCE1)
ENST00000690340.1:n.4127G>T (PLCE1)
ENST00000692286.1:c.6322G>T (PLCE1) ENSP00000509490.1:p.Val2108Phe
ENST00000692396.1:c.6406G>T (PLCE1) ENSP00000508605.1:p.Val2136Phe
ENST00000371380.8:c.6454G>T (PLCE1) MANE Select ENSP00000360431.2:p.Val2152Phe
ENST00000371385.8:c.5428G>T (PLCE1) ENSP00000360438.4:p.Val1810Phe
ENST00000674738.1:c.5009G>T (PLCE1)
ENST00000674827.1:c.4570G>T (PLCE1) ENSP00000502523.1:p.Val1524Phe
ENST00000675218.1:c.5530G>T (PLCE1) ENSP00000501910.1:p.Val1844Phe
ENST00000675487.1:c.*2387G>T (PLCE1) ENSP00000502340.1:n.*2387G>T
ENST00000675718.1:c.5723G>T (PLCE1)
ENST00000260766.7:c.6454G>T (PLCE1) ENSP00000260766.3:p.Val2152Phe
ENST00000371375.1:c.5530G>T (PLCE1) ENSP00000360426.1:p.Val1844Phe
ENST00000371380.7:c.6454G>T (PLCE1) ENSP00000360431.2:p.Val2152Phe
ENST00000371385.7:c.5530G>T (PLCE1) ENSP00000360438.3:p.Val1844Phe
NM_001165979.2:c.5530G>T (PLCE1) NP_001159451.1:p.Val1844Phe
NM_001288989.1:c.6406G>T (PLCE1) NP_001275918.1:p.Val2136Phe
NM_016341.3:c.6454G>T (PLCE1) NP_057425.3:p.Val2152Phe
XM_006717885.2:c.6496G>T (PLCE1) XP_006717948.1:p.Val2166Phe
XM_006717886.2:c.6496G>T (PLCE1) XP_006717949.1:p.Val2166Phe
XM_006717888.2:c.6493G>T (PLCE1) XP_006717951.1:p.Val2165Phe
XM_006717889.2:c.6448G>T (PLCE1) XP_006717952.1:p.Val2150Phe
XM_006717890.1:c.5572G>T (PLCE1) XP_006717953.1:p.Val1858Phe
XM_011539849.1:c.6496G>T (PLCE1) XP_011538151.1:p.Val2166Phe
XM_011539850.1:c.5341G>T (PLCE1) XP_011538152.1:p.Val1781Phe
XR_945799.1:n.3311-6548C>A (NOC3L)
XM_006717885.4:c.6496G>T (PLCE1) XP_006717948.1:p.Val2166Phe
XM_006717888.4:c.6493G>T (PLCE1) XP_006717951.1:p.Val2165Phe
XM_006717889.4:c.6448G>T (PLCE1) XP_006717952.1:p.Val2150Phe
XM_006717890.3:c.5572G>T (PLCE1) XP_006717953.1:p.Val1858Phe
XM_011539849.3:c.6496G>T (PLCE1) XP_011538151.1:p.Val2166Phe
XM_011539850.3:c.5341G>T (PLCE1) XP_011538152.1:p.Val1781Phe
XM_017016310.2:c.6496G>T (PLCE1) XP_016871799.1:p.Val2166Phe
XM_017016311.2:c.6496G>T (PLCE1) XP_016871800.1:p.Val2166Phe
XM_017016312.2:c.5482G>T (PLCE1) XP_016871801.1:p.Val1828Phe
XR_002957007.1:n.3312-6548C>A (NOC3L)
NM_001288989.2:c.6406G>T (PLCE1) NP_001275918.1:p.Val2136Phe
NM_016341.4:c.6454G>T (PLCE1) MANE Select NP_057425.3:p.Val2152Phe