Canonical Allele Identifier: CA372474241
Gene: PLEC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916337G>T , CM000670.2:g.143916337G>T GRCh38
NC_000008.10:g.144990505G>T , CM000670.1:g.144990505G>T GRCh37
NC_000008.9:g.145062493G>T NCBI36
NG_012492.1:g.65409C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13616C>A ENSP00000437303.2:p.Thr4539Asn
ENST00000685198.1:c.13535C>A ENSP00000510528.1:p.Thr4512Asn
ENST00000687971.1:c.13202C>A ENSP00000510788.1:p.Thr4401Asn
ENST00000693060.1:c.13415C>A ENSP00000510329.1:p.Thr4472Asn
ENST00000345136.8:c.13484C>A MANE Select ENSP00000344848.3:p.Thr4495Asn
ENST00000527303.2:c.10184C>A ENSP00000433982.2:p.Thr3395Asn
ENST00000322810.8:c.13895C>A ENSP00000323856.4:p.Thr4632Asn
ENST00000345136.7:c.13484C>A ENSP00000344848.3:p.Thr4495Asn
ENST00000354589.7:c.13484C>A ENSP00000346602.3:p.Thr4495Asn
ENST00000354958.6:c.13418C>A ENSP00000347044.2:p.Thr4473Asn
ENST00000356346.7:c.13442C>A MANE Plus Clinical ENSP00000348702.3:p.Thr4481Asn
ENST00000357649.6:c.13496C>A ENSP00000350277.2:p.Thr4499Asn
ENST00000398774.6:c.13388C>A ENSP00000381756.2:p.Thr4463Asn
ENST00000436759.6:c.13565C>A ENSP00000388180.2:p.Thr4522Asn
ENST00000527096.5:c.13553C>A ENSP00000434583.1:p.Thr4518Asn
NM_000445.4:c.13565C>A NP_000436.2:p.Thr4522Asn
NM_201378.3:c.13442C>A NP_958780.1:p.Thr4481Asn
NM_201379.2:c.13418C>A NP_958781.1:p.Thr4473Asn
NM_201380.3:c.13895C>A NP_958782.1:p.Thr4632Asn
NM_201381.2:c.13388C>A NP_958783.1:p.Thr4463Asn
NM_201382.3:c.13484C>A NP_958784.1:p.Thr4495Asn
NM_201383.2:c.13496C>A NP_958785.1:p.Thr4499Asn
NM_201384.2:c.13484C>A NP_958786.1:p.Thr4495Asn
XM_005250976.2:c.13910C>A XP_005251033.1:p.Thr4637Asn
XM_005250978.2:c.13511C>A XP_005251035.1:p.Thr4504Asn
XM_005250979.3:c.13499C>A XP_005251036.1:p.Thr4500Asn
XM_005250980.3:c.13499C>A XP_005251037.1:p.Thr4500Asn
XM_005250981.2:c.13457C>A XP_005251038.1:p.Thr4486Asn
XM_005250982.2:c.13433C>A XP_005251039.1:p.Thr4478Asn
XM_005250983.2:c.13415C>A XP_005251040.1:p.Thr4472Asn
XM_005250984.3:c.13403C>A XP_005251041.1:p.Thr4468Asn
XM_006716588.2:c.13580C>A XP_006716651.1:p.Thr4527Asn
XM_006716589.2:c.13430C>A XP_006716652.1:p.Thr4477Asn
XM_006716590.2:c.13430C>A XP_006716653.1:p.Thr4477Asn
XM_011517130.1:c.13499C>A XP_011515432.1:p.Thr4500Asn
XM_011517131.1:c.13415C>A XP_011515433.1:p.Thr4472Asn
XM_011517132.1:c.10130C>A XP_011515434.1:p.Thr3377Asn
XM_005250976.4:c.13910C>A XP_005251033.1:p.Thr4637Asn
XM_005250978.3:c.13511C>A XP_005251035.1:p.Thr4504Asn
XM_005250979.4:c.13499C>A XP_005251036.1:p.Thr4500Asn
XM_005250980.4:c.13499C>A XP_005251037.1:p.Thr4500Asn
XM_005250981.3:c.13457C>A XP_005251038.1:p.Thr4486Asn
XM_005250982.4:c.13433C>A XP_005251039.1:p.Thr4478Asn
XM_005250984.5:c.13403C>A XP_005251041.1:p.Thr4468Asn
XM_006716588.3:c.13580C>A XP_006716651.1:p.Thr4527Asn
XM_006716590.3:c.13430C>A XP_006716653.1:p.Thr4477Asn
XM_011517130.2:c.13499C>A XP_011515432.1:p.Thr4500Asn
XM_011517131.2:c.13415C>A XP_011515433.1:p.Thr4472Asn
XM_011517132.2:c.10130C>A XP_011515434.1:p.Thr3377Asn
NM_000445.5:c.13565C>A NP_000436.2:p.Thr4522Asn
NM_201378.4:c.13442C>A MANE Plus Clinical NP_958780.1:p.Thr4481Asn
NM_201379.3:c.13418C>A NP_958781.1:p.Thr4473Asn
NM_201380.4:c.13895C>A NP_958782.1:p.Thr4632Asn
NM_201381.3:c.13388C>A NP_958783.1:p.Thr4463Asn
NM_201382.4:c.13484C>A NP_958784.1:p.Thr4495Asn
NM_201383.3:c.13496C>A NP_958785.1:p.Thr4499Asn
NM_201384.3:c.13484C>A MANE Select NP_958786.1:p.Thr4495Asn