Canonical Allele Identifier: CA1826037010

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916353G= , CM000670.2:g.143916353G=	GRCh38
NC_000008.10:g.144990521G= , CM000670.1:g.144990521G=	GRCh37
NC_000008.9:g.145062509G=	NCBI36
NG_012492.1:g.65393C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13600C=	ENSP00000437303.2:p.Arg4534=
ENST00000685198.1:c.13519C=	ENSP00000510528.1:p.Arg4507=
ENST00000687971.1:c.13186C=	ENSP00000510788.1:p.Arg4396=
ENST00000693060.1:c.13399C=	ENSP00000510329.1:p.Arg4467=
ENST00000345136.8:c.13468C= MANE Select	ENSP00000344848.3:p.Arg4490=
ENST00000527303.2:c.10168C=	ENSP00000433982.2:p.Arg3390=
ENST00000322810.8:c.13879C=	ENSP00000323856.4:p.Arg4627=
ENST00000345136.7:c.13468C=	ENSP00000344848.3:p.Arg4490=
ENST00000354589.7:c.13468C=	ENSP00000346602.3:p.Arg4490=
ENST00000354958.6:c.13402C=	ENSP00000347044.2:p.Arg4468=
ENST00000356346.7:c.13426C= MANE Plus Clinical	ENSP00000348702.3:p.Arg4476=
ENST00000357649.6:c.13480C=	ENSP00000350277.2:p.Arg4494=
ENST00000398774.6:c.13372C=	ENSP00000381756.2:p.Arg4458=
ENST00000436759.6:c.13549C=	ENSP00000388180.2:p.Arg4517=
ENST00000527096.5:c.13537C=	ENSP00000434583.1:p.Arg4513=
NM_000445.4:c.13549C=	NP_000436.2:p.Arg4517=
NM_201378.3:c.13426C=	NP_958780.1:p.Arg4476=
NM_201379.2:c.13402C=	NP_958781.1:p.Arg4468=
NM_201380.3:c.13879C=	NP_958782.1:p.Arg4627=
NM_201381.2:c.13372C=	NP_958783.1:p.Arg4458=
NM_201382.3:c.13468C=	NP_958784.1:p.Arg4490=
NM_201383.2:c.13480C=	NP_958785.1:p.Arg4494=
NM_201384.2:c.13468C=	NP_958786.1:p.Arg4490=
XM_005250976.2:c.13894C=	XP_005251033.1:p.Arg4632=
XM_005250978.2:c.13495C=	XP_005251035.1:p.Arg4499=
XM_005250979.3:c.13483C=	XP_005251036.1:p.Arg4495=
XM_005250980.3:c.13483C=	XP_005251037.1:p.Arg4495=
XM_005250981.2:c.13441C=	XP_005251038.1:p.Arg4481=
XM_005250982.2:c.13417C=	XP_005251039.1:p.Arg4473=
XM_005250983.2:c.13399C=	XP_005251040.1:p.Arg4467=
XM_005250984.3:c.13387C=	XP_005251041.1:p.Arg4463=
XM_006716588.2:c.13564C=	XP_006716651.1:p.Arg4522=
XM_006716589.2:c.13414C=	XP_006716652.1:p.Arg4472=
XM_006716590.2:c.13414C=	XP_006716653.1:p.Arg4472=
XM_011517130.1:c.13483C=	XP_011515432.1:p.Arg4495=
XM_011517131.1:c.13399C=	XP_011515433.1:p.Arg4467=
XM_011517132.1:c.10114C=	XP_011515434.1:p.Arg3372=
XM_005250976.4:c.13894C=	XP_005251033.1:p.Arg4632=
XM_005250978.3:c.13495C=	XP_005251035.1:p.Arg4499=
XM_005250979.4:c.13483C=	XP_005251036.1:p.Arg4495=
XM_005250980.4:c.13483C=	XP_005251037.1:p.Arg4495=
XM_005250981.3:c.13441C=	XP_005251038.1:p.Arg4481=
XM_005250982.4:c.13417C=	XP_005251039.1:p.Arg4473=
XM_005250984.5:c.13387C=	XP_005251041.1:p.Arg4463=
XM_006716588.3:c.13564C=	XP_006716651.1:p.Arg4522=
XM_006716590.3:c.13414C=	XP_006716653.1:p.Arg4472=
XM_011517130.2:c.13483C=	XP_011515432.1:p.Arg4495=
XM_011517131.2:c.13399C=	XP_011515433.1:p.Arg4467=
XM_011517132.2:c.10114C=	XP_011515434.1:p.Arg3372=
NM_000445.5:c.13549C=	NP_000436.2:p.Arg4517=
NM_201378.4:c.13426C= MANE Plus Clinical	NP_958780.1:p.Arg4476=
NM_201379.3:c.13402C=	NP_958781.1:p.Arg4468=
NM_201380.4:c.13879C=	NP_958782.1:p.Arg4627=
NM_201381.3:c.13372C=	NP_958783.1:p.Arg4458=
NM_201382.4:c.13468C=	NP_958784.1:p.Arg4490=
NM_201383.3:c.13480C=	NP_958785.1:p.Arg4494=
NM_201384.3:c.13468C= MANE Select	NP_958786.1:p.Arg4490=