Canonical Allele Identifier: CA377641810
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298456A>C , CM000672.2:g.94298456A>C GRCh38
NC_000010.10:g.96058213A>C , CM000672.1:g.96058213A>C GRCh37
NC_000010.9:g.96048203A>C NCBI36
NG_015799.1:g.309468A>C

Transcript Alleles

HGVS Amino-acid change
NM_001165979.2:c.4321A>C NP_001159451.1:p.Ile1441Leu
NM_001288989.1:c.5197A>C NP_001275918.1:p.Ile1733Leu
NM_016341.3:c.5245A>C NP_057425.3:p.Ile1749Leu
XM_006717885.2:c.5287A>C XP_006717948.1:p.Ile1763Leu
XM_006717886.2:c.5287A>C XP_006717949.1:p.Ile1763Leu
XM_006717888.2:c.5284A>C XP_006717951.1:p.Ile1762Leu
XM_006717889.2:c.5239A>C XP_006717952.1:p.Ile1747Leu
XM_006717890.1:c.4363A>C XP_006717953.1:p.Ile1455Leu
XM_011539849.1:c.5287A>C XP_011538151.1:p.Ile1763Leu
XM_011539850.1:c.4132A>C XP_011538152.1:p.Ile1378Leu
XM_006717885.4:c.5287A>C XP_006717948.1:p.Ile1763Leu
XM_006717888.4:c.5284A>C XP_006717951.1:p.Ile1762Leu
XM_006717889.4:c.5239A>C XP_006717952.1:p.Ile1747Leu
XM_006717890.3:c.4363A>C XP_006717953.1:p.Ile1455Leu
XM_011539849.3:c.5287A>C XP_011538151.1:p.Ile1763Leu
XM_011539850.3:c.4132A>C XP_011538152.1:p.Ile1378Leu
XM_017016310.2:c.5287A>C XP_016871799.1:p.Ile1763Leu
XM_017016311.2:c.5287A>C XP_016871800.1:p.Ile1763Leu
XM_017016312.2:c.4273A>C XP_016871801.1:p.Ile1425Leu
NM_001288989.2:c.5197A>C NP_001275918.1:p.Ile1733Leu
NM_016341.4:c.5245A>C MANE Select NP_057425.3:p.Ile1749Leu
ENST00000260766.7:c.5245A>C ENSP00000260766.3:p.Ile1749Leu
ENST00000371375.1:n.4321A>C ENSP00000360426.1:p.Ile1441Leu
ENST00000371380.7:c.5245A>C ENSP00000360431.2:p.Ile1749Leu
ENST00000371385.7:c.4321A>C ENSP00000360438.3:p.Ile1441Leu