Canonical Allele Identifier: CA372474485

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990559G>C (hg19) ; chr8:g.143916391G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916391G>C , CM000670.2:g.143916391G>C	GRCh38
NC_000008.10:g.144990559G>C , CM000670.1:g.144990559G>C	GRCh37
NC_000008.9:g.145062547G>C	NCBI36
NG_012492.1:g.65355C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13562C>G	ENSP00000437303.2:p.Pro4521Arg
ENST00000685198.1:c.13481C>G	ENSP00000510528.1:p.Pro4494Arg
ENST00000687971.1:c.13148C>G	ENSP00000510788.1:p.Pro4383Arg
ENST00000693060.1:c.13361C>G	ENSP00000510329.1:p.Pro4454Arg
ENST00000345136.8:c.13430C>G MANE Select	ENSP00000344848.3:p.Pro4477Arg
ENST00000527303.2:c.10130C>G	ENSP00000433982.2:p.Pro3377Arg
ENST00000322810.8:c.13841C>G	ENSP00000323856.4:p.Pro4614Arg
ENST00000345136.7:c.13430C>G	ENSP00000344848.3:p.Pro4477Arg
ENST00000354589.7:c.13430C>G	ENSP00000346602.3:p.Pro4477Arg
ENST00000354958.6:c.13364C>G	ENSP00000347044.2:p.Pro4455Arg
ENST00000356346.7:c.13388C>G MANE Plus Clinical	ENSP00000348702.3:p.Pro4463Arg
ENST00000357649.6:c.13442C>G	ENSP00000350277.2:p.Pro4481Arg
ENST00000398774.6:c.13334C>G	ENSP00000381756.2:p.Pro4445Arg
ENST00000436759.6:c.13511C>G	ENSP00000388180.2:p.Pro4504Arg
ENST00000527096.5:c.13499C>G	ENSP00000434583.1:p.Pro4500Arg
NM_000445.4:c.13511C>G	NP_000436.2:p.Pro4504Arg
NM_201378.3:c.13388C>G	NP_958780.1:p.Pro4463Arg
NM_201379.2:c.13364C>G	NP_958781.1:p.Pro4455Arg
NM_201380.3:c.13841C>G	NP_958782.1:p.Pro4614Arg
NM_201381.2:c.13334C>G	NP_958783.1:p.Pro4445Arg
NM_201382.3:c.13430C>G	NP_958784.1:p.Pro4477Arg
NM_201383.2:c.13442C>G	NP_958785.1:p.Pro4481Arg
NM_201384.2:c.13430C>G	NP_958786.1:p.Pro4477Arg
XM_005250976.2:c.13856C>G	XP_005251033.1:p.Pro4619Arg
XM_005250978.2:c.13457C>G	XP_005251035.1:p.Pro4486Arg
XM_005250979.3:c.13445C>G	XP_005251036.1:p.Pro4482Arg
XM_005250980.3:c.13445C>G	XP_005251037.1:p.Pro4482Arg
XM_005250981.2:c.13403C>G	XP_005251038.1:p.Pro4468Arg
XM_005250982.2:c.13379C>G	XP_005251039.1:p.Pro4460Arg
XM_005250983.2:c.13361C>G	XP_005251040.1:p.Pro4454Arg
XM_005250984.3:c.13349C>G	XP_005251041.1:p.Pro4450Arg
XM_006716588.2:c.13526C>G	XP_006716651.1:p.Pro4509Arg
XM_006716589.2:c.13376C>G	XP_006716652.1:p.Pro4459Arg
XM_006716590.2:c.13376C>G	XP_006716653.1:p.Pro4459Arg
XM_011517130.1:c.13445C>G	XP_011515432.1:p.Pro4482Arg
XM_011517131.1:c.13361C>G	XP_011515433.1:p.Pro4454Arg
XM_011517132.1:c.10076C>G	XP_011515434.1:p.Pro3359Arg
XM_005250976.4:c.13856C>G	XP_005251033.1:p.Pro4619Arg
XM_005250978.3:c.13457C>G	XP_005251035.1:p.Pro4486Arg
XM_005250979.4:c.13445C>G	XP_005251036.1:p.Pro4482Arg
XM_005250980.4:c.13445C>G	XP_005251037.1:p.Pro4482Arg
XM_005250981.3:c.13403C>G	XP_005251038.1:p.Pro4468Arg
XM_005250982.4:c.13379C>G	XP_005251039.1:p.Pro4460Arg
XM_005250984.5:c.13349C>G	XP_005251041.1:p.Pro4450Arg
XM_006716588.3:c.13526C>G	XP_006716651.1:p.Pro4509Arg
XM_006716590.3:c.13376C>G	XP_006716653.1:p.Pro4459Arg
XM_011517130.2:c.13445C>G	XP_011515432.1:p.Pro4482Arg
XM_011517131.2:c.13361C>G	XP_011515433.1:p.Pro4454Arg
XM_011517132.2:c.10076C>G	XP_011515434.1:p.Pro3359Arg
NM_000445.5:c.13511C>G	NP_000436.2:p.Pro4504Arg
NM_201378.4:c.13388C>G MANE Plus Clinical	NP_958780.1:p.Pro4463Arg
NM_201379.3:c.13364C>G	NP_958781.1:p.Pro4455Arg
NM_201380.4:c.13841C>G	NP_958782.1:p.Pro4614Arg
NM_201381.3:c.13334C>G	NP_958783.1:p.Pro4445Arg
NM_201382.4:c.13430C>G	NP_958784.1:p.Pro4477Arg
NM_201383.3:c.13442C>G	NP_958785.1:p.Pro4481Arg
NM_201384.3:c.13430C>G MANE Select	NP_958786.1:p.Pro4477Arg