Canonical Allele Identifier: CA372474781

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990640A>T (hg19) ; chr8:g.143916472A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916472A>T , CM000670.2:g.143916472A>T	GRCh38
NC_000008.10:g.144990640A>T , CM000670.1:g.144990640A>T	GRCh37
NC_000008.9:g.145062628A>T	NCBI36
NG_012492.1:g.65274T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13481T>A	ENSP00000437303.2:p.Leu4494Gln
ENST00000685198.1:c.13400T>A	ENSP00000510528.1:p.Leu4467Gln
ENST00000687971.1:c.13067T>A	ENSP00000510788.1:p.Leu4356Gln
ENST00000693060.1:c.13280T>A	ENSP00000510329.1:p.Leu4427Gln
ENST00000345136.8:c.13349T>A MANE Select	ENSP00000344848.3:p.Leu4450Gln
ENST00000527303.2:c.10049T>A	ENSP00000433982.2:p.Leu3350Gln
ENST00000322810.8:c.13760T>A	ENSP00000323856.4:p.Leu4587Gln
ENST00000345136.7:c.13349T>A	ENSP00000344848.3:p.Leu4450Gln
ENST00000354589.7:c.13349T>A	ENSP00000346602.3:p.Leu4450Gln
ENST00000354958.6:c.13283T>A	ENSP00000347044.2:p.Leu4428Gln
ENST00000356346.7:c.13307T>A MANE Plus Clinical	ENSP00000348702.3:p.Leu4436Gln
ENST00000357649.6:c.13361T>A	ENSP00000350277.2:p.Leu4454Gln
ENST00000398774.6:c.13253T>A	ENSP00000381756.2:p.Leu4418Gln
ENST00000436759.6:c.13430T>A	ENSP00000388180.2:p.Leu4477Gln
ENST00000527096.5:c.13418T>A	ENSP00000434583.1:p.Leu4473Gln
NM_000445.4:c.13430T>A	NP_000436.2:p.Leu4477Gln
NM_201378.3:c.13307T>A	NP_958780.1:p.Leu4436Gln
NM_201379.2:c.13283T>A	NP_958781.1:p.Leu4428Gln
NM_201380.3:c.13760T>A	NP_958782.1:p.Leu4587Gln
NM_201381.2:c.13253T>A	NP_958783.1:p.Leu4418Gln
NM_201382.3:c.13349T>A	NP_958784.1:p.Leu4450Gln
NM_201383.2:c.13361T>A	NP_958785.1:p.Leu4454Gln
NM_201384.2:c.13349T>A	NP_958786.1:p.Leu4450Gln
XM_005250976.2:c.13775T>A	XP_005251033.1:p.Leu4592Gln
XM_005250978.2:c.13376T>A	XP_005251035.1:p.Leu4459Gln
XM_005250979.3:c.13364T>A	XP_005251036.1:p.Leu4455Gln
XM_005250980.3:c.13364T>A	XP_005251037.1:p.Leu4455Gln
XM_005250981.2:c.13322T>A	XP_005251038.1:p.Leu4441Gln
XM_005250982.2:c.13298T>A	XP_005251039.1:p.Leu4433Gln
XM_005250983.2:c.13280T>A	XP_005251040.1:p.Leu4427Gln
XM_005250984.3:c.13268T>A	XP_005251041.1:p.Leu4423Gln
XM_006716588.2:c.13445T>A	XP_006716651.1:p.Leu4482Gln
XM_006716589.2:c.13295T>A	XP_006716652.1:p.Leu4432Gln
XM_006716590.2:c.13295T>A	XP_006716653.1:p.Leu4432Gln
XM_011517130.1:c.13364T>A	XP_011515432.1:p.Leu4455Gln
XM_011517131.1:c.13280T>A	XP_011515433.1:p.Leu4427Gln
XM_011517132.1:c.9995T>A	XP_011515434.1:p.Leu3332Gln
XM_005250976.4:c.13775T>A	XP_005251033.1:p.Leu4592Gln
XM_005250978.3:c.13376T>A	XP_005251035.1:p.Leu4459Gln
XM_005250979.4:c.13364T>A	XP_005251036.1:p.Leu4455Gln
XM_005250980.4:c.13364T>A	XP_005251037.1:p.Leu4455Gln
XM_005250981.3:c.13322T>A	XP_005251038.1:p.Leu4441Gln
XM_005250982.4:c.13298T>A	XP_005251039.1:p.Leu4433Gln
XM_005250984.5:c.13268T>A	XP_005251041.1:p.Leu4423Gln
XM_006716588.3:c.13445T>A	XP_006716651.1:p.Leu4482Gln
XM_006716590.3:c.13295T>A	XP_006716653.1:p.Leu4432Gln
XM_011517130.2:c.13364T>A	XP_011515432.1:p.Leu4455Gln
XM_011517131.2:c.13280T>A	XP_011515433.1:p.Leu4427Gln
XM_011517132.2:c.9995T>A	XP_011515434.1:p.Leu3332Gln
NM_000445.5:c.13430T>A	NP_000436.2:p.Leu4477Gln
NM_201378.4:c.13307T>A MANE Plus Clinical	NP_958780.1:p.Leu4436Gln
NM_201379.3:c.13283T>A	NP_958781.1:p.Leu4428Gln
NM_201380.4:c.13760T>A	NP_958782.1:p.Leu4587Gln
NM_201381.3:c.13253T>A	NP_958783.1:p.Leu4418Gln
NM_201382.4:c.13349T>A	NP_958784.1:p.Leu4450Gln
NM_201383.3:c.13361T>A	NP_958785.1:p.Leu4454Gln
NM_201384.3:c.13349T>A MANE Select	NP_958786.1:p.Leu4450Gln