Canonical Allele Identifier: CA1826037118

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916410T= , CM000670.2:g.143916410T=	GRCh38
NC_000008.10:g.144990578T= , CM000670.1:g.144990578T=	GRCh37
NC_000008.9:g.145062566T=	NCBI36
NG_012492.1:g.65336A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13543A=	ENSP00000437303.2:p.Thr4515=
ENST00000685198.1:c.13462A=	ENSP00000510528.1:p.Thr4488=
ENST00000687971.1:c.13129A=	ENSP00000510788.1:p.Thr4377=
ENST00000693060.1:c.13342A=	ENSP00000510329.1:p.Thr4448=
ENST00000345136.8:c.13411A= MANE Select	ENSP00000344848.3:p.Thr4471=
ENST00000527303.2:c.10111A=	ENSP00000433982.2:p.Thr3371=
ENST00000322810.8:c.13822A=	ENSP00000323856.4:p.Thr4608=
ENST00000345136.7:c.13411A=	ENSP00000344848.3:p.Thr4471=
ENST00000354589.7:c.13411A=	ENSP00000346602.3:p.Thr4471=
ENST00000354958.6:c.13345A=	ENSP00000347044.2:p.Thr4449=
ENST00000356346.7:c.13369A= MANE Plus Clinical	ENSP00000348702.3:p.Thr4457=
ENST00000357649.6:c.13423A=	ENSP00000350277.2:p.Thr4475=
ENST00000398774.6:c.13315A=	ENSP00000381756.2:p.Thr4439=
ENST00000436759.6:c.13492A=	ENSP00000388180.2:p.Thr4498=
ENST00000527096.5:c.13480A=	ENSP00000434583.1:p.Thr4494=
NM_000445.4:c.13492A=	NP_000436.2:p.Thr4498=
NM_201378.3:c.13369A=	NP_958780.1:p.Thr4457=
NM_201379.2:c.13345A=	NP_958781.1:p.Thr4449=
NM_201380.3:c.13822A=	NP_958782.1:p.Thr4608=
NM_201381.2:c.13315A=	NP_958783.1:p.Thr4439=
NM_201382.3:c.13411A=	NP_958784.1:p.Thr4471=
NM_201383.2:c.13423A=	NP_958785.1:p.Thr4475=
NM_201384.2:c.13411A=	NP_958786.1:p.Thr4471=
XM_005250976.2:c.13837A=	XP_005251033.1:p.Thr4613=
XM_005250978.2:c.13438A=	XP_005251035.1:p.Thr4480=
XM_005250979.3:c.13426A=	XP_005251036.1:p.Thr4476=
XM_005250980.3:c.13426A=	XP_005251037.1:p.Thr4476=
XM_005250981.2:c.13384A=	XP_005251038.1:p.Thr4462=
XM_005250982.2:c.13360A=	XP_005251039.1:p.Thr4454=
XM_005250983.2:c.13342A=	XP_005251040.1:p.Thr4448=
XM_005250984.3:c.13330A=	XP_005251041.1:p.Thr4444=
XM_006716588.2:c.13507A=	XP_006716651.1:p.Thr4503=
XM_006716589.2:c.13357A=	XP_006716652.1:p.Thr4453=
XM_006716590.2:c.13357A=	XP_006716653.1:p.Thr4453=
XM_011517130.1:c.13426A=	XP_011515432.1:p.Thr4476=
XM_011517131.1:c.13342A=	XP_011515433.1:p.Thr4448=
XM_011517132.1:c.10057A=	XP_011515434.1:p.Thr3353=
XM_005250976.4:c.13837A=	XP_005251033.1:p.Thr4613=
XM_005250978.3:c.13438A=	XP_005251035.1:p.Thr4480=
XM_005250979.4:c.13426A=	XP_005251036.1:p.Thr4476=
XM_005250980.4:c.13426A=	XP_005251037.1:p.Thr4476=
XM_005250981.3:c.13384A=	XP_005251038.1:p.Thr4462=
XM_005250982.4:c.13360A=	XP_005251039.1:p.Thr4454=
XM_005250984.5:c.13330A=	XP_005251041.1:p.Thr4444=
XM_006716588.3:c.13507A=	XP_006716651.1:p.Thr4503=
XM_006716590.3:c.13357A=	XP_006716653.1:p.Thr4453=
XM_011517130.2:c.13426A=	XP_011515432.1:p.Thr4476=
XM_011517131.2:c.13342A=	XP_011515433.1:p.Thr4448=
XM_011517132.2:c.10057A=	XP_011515434.1:p.Thr3353=
NM_000445.5:c.13492A=	NP_000436.2:p.Thr4498=
NM_201378.4:c.13369A= MANE Plus Clinical	NP_958780.1:p.Thr4457=
NM_201379.3:c.13345A=	NP_958781.1:p.Thr4449=
NM_201380.4:c.13822A=	NP_958782.1:p.Thr4608=
NM_201381.3:c.13315A=	NP_958783.1:p.Thr4439=
NM_201382.4:c.13411A=	NP_958784.1:p.Thr4471=
NM_201383.3:c.13423A=	NP_958785.1:p.Thr4475=
NM_201384.3:c.13411A= MANE Select	NP_958786.1:p.Thr4471=