Canonical Allele Identifier: CA2610242125

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94328110G>T , CM000672.2:g.94328110G>T GRCh38
NC_000010.10:g.96087867G>T , CM000672.1:g.96087867G>T GRCh37
NC_000010.9:g.96077857G>T NCBI36
NG_015799.1:g.339122G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.9015G>T (PLCE1) ENSP00000360426.1:n.9015G>T
ENST00000688810.1:c.6104G>T (PLCE1) ENSP00000509140.1:n.6104G>T
ENST00000690340.1:n.4720G>T (PLCE1)
ENST00000692396.1:c.*167G>T (PLCE1) ENSP00000508605.1:n.*167G>T
ENST00000371380.8:c.*167G>T (PLCE1) MANE Select ENSP00000360431.2:n.*167G>T
ENST00000371385.8:c.*167G>T (PLCE1) ENSP00000360438.4:n.*167G>T
ENST00000675218.1:c.6152G>T (PLCE1) ENSP00000501910.1:n.6152G>T
ENST00000675487.1:c.*3009G>T (PLCE1) ENSP00000502340.1:n.*3009G>T
ENST00000260766.7:c.*167G>T (PLCE1) ENSP00000260766.3:n.*167G>T
ENST00000371380.7:c.*167G>T (PLCE1) ENSP00000360431.2:n.*167G>T
ENST00000371385.7:c.*167G>T (PLCE1) ENSP00000360438.3:n.*167G>T
NM_001165979.2:c.*167G>T (PLCE1) NP_001159451.1:n.*167G>T
NM_001288989.1:c.*167G>T (PLCE1) NP_001275918.1:n.*167G>T
NM_016341.3:c.*167G>T (PLCE1) NP_057425.3:n.*167G>T
XM_006717885.2:c.*167G>T (PLCE1) XP_006717948.1:n.*167G>T
XM_006717888.2:c.*167G>T (PLCE1) XP_006717951.1:n.*167G>T
XM_006717889.2:c.*167G>T (PLCE1) XP_006717952.1:n.*167G>T
XM_006717890.1:c.*167G>T (PLCE1) XP_006717953.1:n.*167G>T
XM_011539849.1:c.*167G>T (PLCE1) XP_011538151.1:n.*167G>T
XM_011539850.1:c.*167G>T (PLCE1) XP_011538152.1:n.*167G>T
XR_945799.1:n.3310+5280C>A (NOC3L)
XM_006717885.4:c.*167G>T (PLCE1) XP_006717948.1:n.*167G>T
XM_006717888.4:c.*167G>T (PLCE1) XP_006717951.1:n.*167G>T
XM_006717889.4:c.*167G>T (PLCE1) XP_006717952.1:n.*167G>T
XM_006717890.3:c.*167G>T (PLCE1) XP_006717953.1:n.*167G>T
XM_011539849.3:c.*167G>T (PLCE1) XP_011538151.1:n.*167G>T
XM_011539850.3:c.*167G>T (PLCE1) XP_011538152.1:n.*167G>T
XM_017016310.2:c.*167G>T (PLCE1) XP_016871799.1:n.*167G>T
XM_017016312.2:c.*167G>T (PLCE1) XP_016871801.1:n.*167G>T
XR_002957007.1:n.3311+5280C>A (NOC3L)
NM_001288989.2:c.*167G>T (PLCE1) NP_001275918.1:n.*167G>T
NM_016341.4:c.*167G>T (PLCE1) MANE Select NP_057425.3:n.*167G>T