Canonical Allele Identifier: CA372481044

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143917292C>T , CM000670.2:g.143917292C>T	GRCh38
NC_000008.10:g.144991460C>T , CM000670.1:g.144991460C>T	GRCh37
NC_000008.9:g.145063448C>T	NCBI36
NG_012492.1:g.64454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.12661G>A	ENSP00000437303.2:p.Glu4221Lys
ENST00000685198.1:c.12580G>A	ENSP00000510528.1:p.Glu4194Lys
ENST00000687971.1:c.12247G>A	ENSP00000510788.1:p.Glu4083Lys
ENST00000693060.1:c.12460G>A	ENSP00000510329.1:p.Glu4154Lys
ENST00000345136.8:c.12529G>A MANE Select	ENSP00000344848.3:p.Glu4177Lys
ENST00000527303.2:c.9229G>A	ENSP00000433982.2:p.Glu3077Lys
ENST00000322810.8:c.12940G>A	ENSP00000323856.4:p.Glu4314Lys
ENST00000345136.7:c.12529G>A	ENSP00000344848.3:p.Glu4177Lys
ENST00000354589.7:c.12529G>A	ENSP00000346602.3:p.Glu4177Lys
ENST00000354958.6:c.12463G>A	ENSP00000347044.2:p.Glu4155Lys
ENST00000356346.7:c.12487G>A MANE Plus Clinical	ENSP00000348702.3:p.Glu4163Lys
ENST00000357649.6:c.12541G>A	ENSP00000350277.2:p.Glu4181Lys
ENST00000398774.6:c.12433G>A	ENSP00000381756.2:p.Glu4145Lys
ENST00000436759.6:c.12610G>A	ENSP00000388180.2:p.Glu4204Lys
ENST00000527096.5:c.12598G>A	ENSP00000434583.1:p.Glu4200Lys
NM_000445.4:c.12610G>A	NP_000436.2:p.Glu4204Lys
NM_201378.3:c.12487G>A	NP_958780.1:p.Glu4163Lys
NM_201379.2:c.12463G>A	NP_958781.1:p.Glu4155Lys
NM_201380.3:c.12940G>A	NP_958782.1:p.Glu4314Lys
NM_201381.2:c.12433G>A	NP_958783.1:p.Glu4145Lys
NM_201382.3:c.12529G>A	NP_958784.1:p.Glu4177Lys
NM_201383.2:c.12541G>A	NP_958785.1:p.Glu4181Lys
NM_201384.2:c.12529G>A	NP_958786.1:p.Glu4177Lys
XM_005250976.2:c.12955G>A	XP_005251033.1:p.Glu4319Lys
XM_005250978.2:c.12556G>A	XP_005251035.1:p.Glu4186Lys
XM_005250979.3:c.12544G>A	XP_005251036.1:p.Glu4182Lys
XM_005250980.3:c.12544G>A	XP_005251037.1:p.Glu4182Lys
XM_005250981.2:c.12502G>A	XP_005251038.1:p.Glu4168Lys
XM_005250982.2:c.12478G>A	XP_005251039.1:p.Glu4160Lys
XM_005250983.2:c.12460G>A	XP_005251040.1:p.Glu4154Lys
XM_005250984.3:c.12448G>A	XP_005251041.1:p.Glu4150Lys
XM_006716588.2:c.12625G>A	XP_006716651.1:p.Glu4209Lys
XM_006716589.2:c.12475G>A	XP_006716652.1:p.Glu4159Lys
XM_006716590.2:c.12475G>A	XP_006716653.1:p.Glu4159Lys
XM_011517130.1:c.12544G>A	XP_011515432.1:p.Glu4182Lys
XM_011517131.1:c.12460G>A	XP_011515433.1:p.Glu4154Lys
XM_011517132.1:c.9175G>A	XP_011515434.1:p.Glu3059Lys
XM_005250976.4:c.12955G>A	XP_005251033.1:p.Glu4319Lys
XM_005250978.3:c.12556G>A	XP_005251035.1:p.Glu4186Lys
XM_005250979.4:c.12544G>A	XP_005251036.1:p.Glu4182Lys
XM_005250980.4:c.12544G>A	XP_005251037.1:p.Glu4182Lys
XM_005250981.3:c.12502G>A	XP_005251038.1:p.Glu4168Lys
XM_005250982.4:c.12478G>A	XP_005251039.1:p.Glu4160Lys
XM_005250984.5:c.12448G>A	XP_005251041.1:p.Glu4150Lys
XM_006716588.3:c.12625G>A	XP_006716651.1:p.Glu4209Lys
XM_006716590.3:c.12475G>A	XP_006716653.1:p.Glu4159Lys
XM_011517130.2:c.12544G>A	XP_011515432.1:p.Glu4182Lys
XM_011517131.2:c.12460G>A	XP_011515433.1:p.Glu4154Lys
XM_011517132.2:c.9175G>A	XP_011515434.1:p.Glu3059Lys
NM_000445.5:c.12610G>A	NP_000436.2:p.Glu4204Lys
NM_201378.4:c.12487G>A MANE Plus Clinical	NP_958780.1:p.Glu4163Lys
NM_201379.3:c.12463G>A	NP_958781.1:p.Glu4155Lys
NM_201380.4:c.12940G>A	NP_958782.1:p.Glu4314Lys
NM_201381.3:c.12433G>A	NP_958783.1:p.Glu4145Lys
NM_201382.4:c.12529G>A	NP_958784.1:p.Glu4177Lys
NM_201383.3:c.12541G>A	NP_958785.1:p.Glu4181Lys
NM_201384.3:c.12529G>A MANE Select	NP_958786.1:p.Glu4177Lys