Canonical Allele Identifier: CA1826037163

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916433A= , CM000670.2:g.143916433A=	GRCh38
NC_000008.10:g.144990601A= , CM000670.1:g.144990601A=	GRCh37
NC_000008.9:g.145062589A=	NCBI36
NG_012492.1:g.65313T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13520T=	ENSP00000437303.2:p.Leu4507=
ENST00000685198.1:c.13439T=	ENSP00000510528.1:p.Leu4480=
ENST00000687971.1:c.13106T=	ENSP00000510788.1:p.Leu4369=
ENST00000693060.1:c.13319T=	ENSP00000510329.1:p.Leu4440=
ENST00000345136.8:c.13388T= MANE Select	ENSP00000344848.3:p.Leu4463=
ENST00000527303.2:c.10088T=	ENSP00000433982.2:p.Leu3363=
ENST00000322810.8:c.13799T=	ENSP00000323856.4:p.Leu4600=
ENST00000345136.7:c.13388T=	ENSP00000344848.3:p.Leu4463=
ENST00000354589.7:c.13388T=	ENSP00000346602.3:p.Leu4463=
ENST00000354958.6:c.13322T=	ENSP00000347044.2:p.Leu4441=
ENST00000356346.7:c.13346T= MANE Plus Clinical	ENSP00000348702.3:p.Leu4449=
ENST00000357649.6:c.13400T=	ENSP00000350277.2:p.Leu4467=
ENST00000398774.6:c.13292T=	ENSP00000381756.2:p.Leu4431=
ENST00000436759.6:c.13469T=	ENSP00000388180.2:p.Leu4490=
ENST00000527096.5:c.13457T=	ENSP00000434583.1:p.Leu4486=
NM_000445.4:c.13469T=	NP_000436.2:p.Leu4490=
NM_201378.3:c.13346T=	NP_958780.1:p.Leu4449=
NM_201379.2:c.13322T=	NP_958781.1:p.Leu4441=
NM_201380.3:c.13799T=	NP_958782.1:p.Leu4600=
NM_201381.2:c.13292T=	NP_958783.1:p.Leu4431=
NM_201382.3:c.13388T=	NP_958784.1:p.Leu4463=
NM_201383.2:c.13400T=	NP_958785.1:p.Leu4467=
NM_201384.2:c.13388T=	NP_958786.1:p.Leu4463=
XM_005250976.2:c.13814T=	XP_005251033.1:p.Leu4605=
XM_005250978.2:c.13415T=	XP_005251035.1:p.Leu4472=
XM_005250979.3:c.13403T=	XP_005251036.1:p.Leu4468=
XM_005250980.3:c.13403T=	XP_005251037.1:p.Leu4468=
XM_005250981.2:c.13361T=	XP_005251038.1:p.Leu4454=
XM_005250982.2:c.13337T=	XP_005251039.1:p.Leu4446=
XM_005250983.2:c.13319T=	XP_005251040.1:p.Leu4440=
XM_005250984.3:c.13307T=	XP_005251041.1:p.Leu4436=
XM_006716588.2:c.13484T=	XP_006716651.1:p.Leu4495=
XM_006716589.2:c.13334T=	XP_006716652.1:p.Leu4445=
XM_006716590.2:c.13334T=	XP_006716653.1:p.Leu4445=
XM_011517130.1:c.13403T=	XP_011515432.1:p.Leu4468=
XM_011517131.1:c.13319T=	XP_011515433.1:p.Leu4440=
XM_011517132.1:c.10034T=	XP_011515434.1:p.Leu3345=
XM_005250976.4:c.13814T=	XP_005251033.1:p.Leu4605=
XM_005250978.3:c.13415T=	XP_005251035.1:p.Leu4472=
XM_005250979.4:c.13403T=	XP_005251036.1:p.Leu4468=
XM_005250980.4:c.13403T=	XP_005251037.1:p.Leu4468=
XM_005250981.3:c.13361T=	XP_005251038.1:p.Leu4454=
XM_005250982.4:c.13337T=	XP_005251039.1:p.Leu4446=
XM_005250984.5:c.13307T=	XP_005251041.1:p.Leu4436=
XM_006716588.3:c.13484T=	XP_006716651.1:p.Leu4495=
XM_006716590.3:c.13334T=	XP_006716653.1:p.Leu4445=
XM_011517130.2:c.13403T=	XP_011515432.1:p.Leu4468=
XM_011517131.2:c.13319T=	XP_011515433.1:p.Leu4440=
XM_011517132.2:c.10034T=	XP_011515434.1:p.Leu3345=
NM_000445.5:c.13469T=	NP_000436.2:p.Leu4490=
NM_201378.4:c.13346T= MANE Plus Clinical	NP_958780.1:p.Leu4449=
NM_201379.3:c.13322T=	NP_958781.1:p.Leu4441=
NM_201380.4:c.13799T=	NP_958782.1:p.Leu4600=
NM_201381.3:c.13292T=	NP_958783.1:p.Leu4431=
NM_201382.4:c.13388T=	NP_958784.1:p.Leu4463=
NM_201383.3:c.13400T=	NP_958785.1:p.Leu4467=
NM_201384.3:c.13388T= MANE Select	NP_958786.1:p.Leu4463=