Canonical Allele Identifier: CA372474447
Gene: PLEC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916382A>T , CM000670.2:g.143916382A>T GRCh38
NC_000008.10:g.144990550A>T , CM000670.1:g.144990550A>T GRCh37
NC_000008.9:g.145062538A>T NCBI36
NG_012492.1:g.65364T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13571T>A ENSP00000437303.2:p.Val4524Asp
ENST00000685198.1:c.13490T>A ENSP00000510528.1:p.Val4497Asp
ENST00000687971.1:c.13157T>A ENSP00000510788.1:p.Val4386Asp
ENST00000693060.1:c.13370T>A ENSP00000510329.1:p.Val4457Asp
ENST00000345136.8:c.13439T>A MANE Select ENSP00000344848.3:p.Val4480Asp
ENST00000527303.2:c.10139T>A ENSP00000433982.2:p.Val3380Asp
ENST00000322810.8:c.13850T>A ENSP00000323856.4:p.Val4617Asp
ENST00000345136.7:c.13439T>A ENSP00000344848.3:p.Val4480Asp
ENST00000354589.7:c.13439T>A ENSP00000346602.3:p.Val4480Asp
ENST00000354958.6:c.13373T>A ENSP00000347044.2:p.Val4458Asp
ENST00000356346.7:c.13397T>A MANE Plus Clinical ENSP00000348702.3:p.Val4466Asp
ENST00000357649.6:c.13451T>A ENSP00000350277.2:p.Val4484Asp
ENST00000398774.6:c.13343T>A ENSP00000381756.2:p.Val4448Asp
ENST00000436759.6:c.13520T>A ENSP00000388180.2:p.Val4507Asp
ENST00000527096.5:c.13508T>A ENSP00000434583.1:p.Val4503Asp
NM_000445.4:c.13520T>A NP_000436.2:p.Val4507Asp
NM_201378.3:c.13397T>A NP_958780.1:p.Val4466Asp
NM_201379.2:c.13373T>A NP_958781.1:p.Val4458Asp
NM_201380.3:c.13850T>A NP_958782.1:p.Val4617Asp
NM_201381.2:c.13343T>A NP_958783.1:p.Val4448Asp
NM_201382.3:c.13439T>A NP_958784.1:p.Val4480Asp
NM_201383.2:c.13451T>A NP_958785.1:p.Val4484Asp
NM_201384.2:c.13439T>A NP_958786.1:p.Val4480Asp
XM_005250976.2:c.13865T>A XP_005251033.1:p.Val4622Asp
XM_005250978.2:c.13466T>A XP_005251035.1:p.Val4489Asp
XM_005250979.3:c.13454T>A XP_005251036.1:p.Val4485Asp
XM_005250980.3:c.13454T>A XP_005251037.1:p.Val4485Asp
XM_005250981.2:c.13412T>A XP_005251038.1:p.Val4471Asp
XM_005250982.2:c.13388T>A XP_005251039.1:p.Val4463Asp
XM_005250983.2:c.13370T>A XP_005251040.1:p.Val4457Asp
XM_005250984.3:c.13358T>A XP_005251041.1:p.Val4453Asp
XM_006716588.2:c.13535T>A XP_006716651.1:p.Val4512Asp
XM_006716589.2:c.13385T>A XP_006716652.1:p.Val4462Asp
XM_006716590.2:c.13385T>A XP_006716653.1:p.Val4462Asp
XM_011517130.1:c.13454T>A XP_011515432.1:p.Val4485Asp
XM_011517131.1:c.13370T>A XP_011515433.1:p.Val4457Asp
XM_011517132.1:c.10085T>A XP_011515434.1:p.Val3362Asp
XM_005250976.4:c.13865T>A XP_005251033.1:p.Val4622Asp
XM_005250978.3:c.13466T>A XP_005251035.1:p.Val4489Asp
XM_005250979.4:c.13454T>A XP_005251036.1:p.Val4485Asp
XM_005250980.4:c.13454T>A XP_005251037.1:p.Val4485Asp
XM_005250981.3:c.13412T>A XP_005251038.1:p.Val4471Asp
XM_005250982.4:c.13388T>A XP_005251039.1:p.Val4463Asp
XM_005250984.5:c.13358T>A XP_005251041.1:p.Val4453Asp
XM_006716588.3:c.13535T>A XP_006716651.1:p.Val4512Asp
XM_006716590.3:c.13385T>A XP_006716653.1:p.Val4462Asp
XM_011517130.2:c.13454T>A XP_011515432.1:p.Val4485Asp
XM_011517131.2:c.13370T>A XP_011515433.1:p.Val4457Asp
XM_011517132.2:c.10085T>A XP_011515434.1:p.Val3362Asp
NM_000445.5:c.13520T>A NP_000436.2:p.Val4507Asp
NM_201378.4:c.13397T>A MANE Plus Clinical NP_958780.1:p.Val4466Asp
NM_201379.3:c.13373T>A NP_958781.1:p.Val4458Asp
NM_201380.4:c.13850T>A NP_958782.1:p.Val4617Asp
NM_201381.3:c.13343T>A NP_958783.1:p.Val4448Asp
NM_201382.4:c.13439T>A NP_958784.1:p.Val4480Asp
NM_201383.3:c.13451T>A NP_958785.1:p.Val4484Asp
NM_201384.3:c.13439T>A MANE Select NP_958786.1:p.Val4480Asp