Canonical Allele Identifier: CA1826037409

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916573C= , CM000670.2:g.143916573C=	GRCh38
NC_000008.10:g.144990741C= , CM000670.1:g.144990741C=	GRCh37
NC_000008.9:g.145062729C=	NCBI36
NG_012492.1:g.65173G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13380G=	ENSP00000437303.2:p.Thr4460=
ENST00000685198.1:c.13299G=	ENSP00000510528.1:p.Thr4433=
ENST00000687971.1:c.12966G=	ENSP00000510788.1:p.Thr4322=
ENST00000693060.1:c.13179G=	ENSP00000510329.1:p.Thr4393=
ENST00000345136.8:c.13248G= MANE Select	ENSP00000344848.3:p.Thr4416=
ENST00000527303.2:c.9948G=	ENSP00000433982.2:p.Thr3316=
ENST00000322810.8:c.13659G=	ENSP00000323856.4:p.Thr4553=
ENST00000345136.7:c.13248G=	ENSP00000344848.3:p.Thr4416=
ENST00000354589.7:c.13248G=	ENSP00000346602.3:p.Thr4416=
ENST00000354958.6:c.13182G=	ENSP00000347044.2:p.Thr4394=
ENST00000356346.7:c.13206G= MANE Plus Clinical	ENSP00000348702.3:p.Thr4402=
ENST00000357649.6:c.13260G=	ENSP00000350277.2:p.Thr4420=
ENST00000398774.6:c.13152G=	ENSP00000381756.2:p.Thr4384=
ENST00000436759.6:c.13329G=	ENSP00000388180.2:p.Thr4443=
ENST00000527096.5:c.13317G=	ENSP00000434583.1:p.Thr4439=
NM_000445.4:c.13329G=	NP_000436.2:p.Thr4443=
NM_201378.3:c.13206G=	NP_958780.1:p.Thr4402=
NM_201379.2:c.13182G=	NP_958781.1:p.Thr4394=
NM_201380.3:c.13659G=	NP_958782.1:p.Thr4553=
NM_201381.2:c.13152G=	NP_958783.1:p.Thr4384=
NM_201382.3:c.13248G=	NP_958784.1:p.Thr4416=
NM_201383.2:c.13260G=	NP_958785.1:p.Thr4420=
NM_201384.2:c.13248G=	NP_958786.1:p.Thr4416=
XM_005250976.2:c.13674G=	XP_005251033.1:p.Thr4558=
XM_005250978.2:c.13275G=	XP_005251035.1:p.Thr4425=
XM_005250979.3:c.13263G=	XP_005251036.1:p.Thr4421=
XM_005250980.3:c.13263G=	XP_005251037.1:p.Thr4421=
XM_005250981.2:c.13221G=	XP_005251038.1:p.Thr4407=
XM_005250982.2:c.13197G=	XP_005251039.1:p.Thr4399=
XM_005250983.2:c.13179G=	XP_005251040.1:p.Thr4393=
XM_005250984.3:c.13167G=	XP_005251041.1:p.Thr4389=
XM_006716588.2:c.13344G=	XP_006716651.1:p.Thr4448=
XM_006716589.2:c.13194G=	XP_006716652.1:p.Thr4398=
XM_006716590.2:c.13194G=	XP_006716653.1:p.Thr4398=
XM_011517130.1:c.13263G=	XP_011515432.1:p.Thr4421=
XM_011517131.1:c.13179G=	XP_011515433.1:p.Thr4393=
XM_011517132.1:c.9894G=	XP_011515434.1:p.Thr3298=
XM_005250976.4:c.13674G=	XP_005251033.1:p.Thr4558=
XM_005250978.3:c.13275G=	XP_005251035.1:p.Thr4425=
XM_005250979.4:c.13263G=	XP_005251036.1:p.Thr4421=
XM_005250980.4:c.13263G=	XP_005251037.1:p.Thr4421=
XM_005250981.3:c.13221G=	XP_005251038.1:p.Thr4407=
XM_005250982.4:c.13197G=	XP_005251039.1:p.Thr4399=
XM_005250984.5:c.13167G=	XP_005251041.1:p.Thr4389=
XM_006716588.3:c.13344G=	XP_006716651.1:p.Thr4448=
XM_006716590.3:c.13194G=	XP_006716653.1:p.Thr4398=
XM_011517130.2:c.13263G=	XP_011515432.1:p.Thr4421=
XM_011517131.2:c.13179G=	XP_011515433.1:p.Thr4393=
XM_011517132.2:c.9894G=	XP_011515434.1:p.Thr3298=
NM_000445.5:c.13329G=	NP_000436.2:p.Thr4443=
NM_201378.4:c.13206G= MANE Plus Clinical	NP_958780.1:p.Thr4402=
NM_201379.3:c.13182G=	NP_958781.1:p.Thr4394=
NM_201380.4:c.13659G=	NP_958782.1:p.Thr4553=
NM_201381.3:c.13152G=	NP_958783.1:p.Thr4384=
NM_201382.4:c.13248G=	NP_958784.1:p.Thr4416=
NM_201383.3:c.13260G=	NP_958785.1:p.Thr4420=
NM_201384.3:c.13248G= MANE Select	NP_958786.1:p.Thr4416=