Canonical Allele Identifier: CA1826037113

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916407T= , CM000670.2:g.143916407T=	GRCh38
NC_000008.10:g.144990575T= , CM000670.1:g.144990575T=	GRCh37
NC_000008.9:g.145062563T=	NCBI36
NG_012492.1:g.65339A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13546A=	ENSP00000437303.2:p.Lys4516=
ENST00000685198.1:c.13465A=	ENSP00000510528.1:p.Lys4489=
ENST00000687971.1:c.13132A=	ENSP00000510788.1:p.Lys4378=
ENST00000693060.1:c.13345A=	ENSP00000510329.1:p.Lys4449=
ENST00000345136.8:c.13414A= MANE Select	ENSP00000344848.3:p.Lys4472=
ENST00000527303.2:c.10114A=	ENSP00000433982.2:p.Lys3372=
ENST00000322810.8:c.13825A=	ENSP00000323856.4:p.Lys4609=
ENST00000345136.7:c.13414A=	ENSP00000344848.3:p.Lys4472=
ENST00000354589.7:c.13414A=	ENSP00000346602.3:p.Lys4472=
ENST00000354958.6:c.13348A=	ENSP00000347044.2:p.Lys4450=
ENST00000356346.7:c.13372A= MANE Plus Clinical	ENSP00000348702.3:p.Lys4458=
ENST00000357649.6:c.13426A=	ENSP00000350277.2:p.Lys4476=
ENST00000398774.6:c.13318A=	ENSP00000381756.2:p.Lys4440=
ENST00000436759.6:c.13495A=	ENSP00000388180.2:p.Lys4499=
ENST00000527096.5:c.13483A=	ENSP00000434583.1:p.Lys4495=
NM_000445.4:c.13495A=	NP_000436.2:p.Lys4499=
NM_201378.3:c.13372A=	NP_958780.1:p.Lys4458=
NM_201379.2:c.13348A=	NP_958781.1:p.Lys4450=
NM_201380.3:c.13825A=	NP_958782.1:p.Lys4609=
NM_201381.2:c.13318A=	NP_958783.1:p.Lys4440=
NM_201382.3:c.13414A=	NP_958784.1:p.Lys4472=
NM_201383.2:c.13426A=	NP_958785.1:p.Lys4476=
NM_201384.2:c.13414A=	NP_958786.1:p.Lys4472=
XM_005250976.2:c.13840A=	XP_005251033.1:p.Lys4614=
XM_005250978.2:c.13441A=	XP_005251035.1:p.Lys4481=
XM_005250979.3:c.13429A=	XP_005251036.1:p.Lys4477=
XM_005250980.3:c.13429A=	XP_005251037.1:p.Lys4477=
XM_005250981.2:c.13387A=	XP_005251038.1:p.Lys4463=
XM_005250982.2:c.13363A=	XP_005251039.1:p.Lys4455=
XM_005250983.2:c.13345A=	XP_005251040.1:p.Lys4449=
XM_005250984.3:c.13333A=	XP_005251041.1:p.Lys4445=
XM_006716588.2:c.13510A=	XP_006716651.1:p.Lys4504=
XM_006716589.2:c.13360A=	XP_006716652.1:p.Lys4454=
XM_006716590.2:c.13360A=	XP_006716653.1:p.Lys4454=
XM_011517130.1:c.13429A=	XP_011515432.1:p.Lys4477=
XM_011517131.1:c.13345A=	XP_011515433.1:p.Lys4449=
XM_011517132.1:c.10060A=	XP_011515434.1:p.Lys3354=
XM_005250976.4:c.13840A=	XP_005251033.1:p.Lys4614=
XM_005250978.3:c.13441A=	XP_005251035.1:p.Lys4481=
XM_005250979.4:c.13429A=	XP_005251036.1:p.Lys4477=
XM_005250980.4:c.13429A=	XP_005251037.1:p.Lys4477=
XM_005250981.3:c.13387A=	XP_005251038.1:p.Lys4463=
XM_005250982.4:c.13363A=	XP_005251039.1:p.Lys4455=
XM_005250984.5:c.13333A=	XP_005251041.1:p.Lys4445=
XM_006716588.3:c.13510A=	XP_006716651.1:p.Lys4504=
XM_006716590.3:c.13360A=	XP_006716653.1:p.Lys4454=
XM_011517130.2:c.13429A=	XP_011515432.1:p.Lys4477=
XM_011517131.2:c.13345A=	XP_011515433.1:p.Lys4449=
XM_011517132.2:c.10060A=	XP_011515434.1:p.Lys3354=
NM_000445.5:c.13495A=	NP_000436.2:p.Lys4499=
NM_201378.4:c.13372A= MANE Plus Clinical	NP_958780.1:p.Lys4458=
NM_201379.3:c.13348A=	NP_958781.1:p.Lys4450=
NM_201380.4:c.13825A=	NP_958782.1:p.Lys4609=
NM_201381.3:c.13318A=	NP_958783.1:p.Lys4440=
NM_201382.4:c.13414A=	NP_958784.1:p.Lys4472=
NM_201383.3:c.13426A=	NP_958785.1:p.Lys4476=
NM_201384.3:c.13414A= MANE Select	NP_958786.1:p.Lys4472=