Canonical Allele Identifier: CA372474407

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916373-G-T
• MyVariant Identifiers: chr8:g.144990541G>T (hg19) ; chr8:g.143916373G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916373G>T , CM000670.2:g.143916373G>T	GRCh38
NC_000008.10:g.144990541G>T , CM000670.1:g.144990541G>T	GRCh37
NC_000008.9:g.145062529G>T	NCBI36
NG_012492.1:g.65373C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13580C>A	ENSP00000437303.2:p.Ser4527Tyr
ENST00000685198.1:c.13499C>A	ENSP00000510528.1:p.Ser4500Tyr
ENST00000687971.1:c.13166C>A	ENSP00000510788.1:p.Ser4389Tyr
ENST00000693060.1:c.13379C>A	ENSP00000510329.1:p.Ser4460Tyr
ENST00000345136.8:c.13448C>A MANE Select	ENSP00000344848.3:p.Ser4483Tyr
ENST00000527303.2:c.10148C>A	ENSP00000433982.2:p.Ser3383Tyr
ENST00000322810.8:c.13859C>A	ENSP00000323856.4:p.Ser4620Tyr
ENST00000345136.7:c.13448C>A	ENSP00000344848.3:p.Ser4483Tyr
ENST00000354589.7:c.13448C>A	ENSP00000346602.3:p.Ser4483Tyr
ENST00000354958.6:c.13382C>A	ENSP00000347044.2:p.Ser4461Tyr
ENST00000356346.7:c.13406C>A MANE Plus Clinical	ENSP00000348702.3:p.Ser4469Tyr
ENST00000357649.6:c.13460C>A	ENSP00000350277.2:p.Ser4487Tyr
ENST00000398774.6:c.13352C>A	ENSP00000381756.2:p.Ser4451Tyr
ENST00000436759.6:c.13529C>A	ENSP00000388180.2:p.Ser4510Tyr
ENST00000527096.5:c.13517C>A	ENSP00000434583.1:p.Ser4506Tyr
NM_000445.4:c.13529C>A	NP_000436.2:p.Ser4510Tyr
NM_201378.3:c.13406C>A	NP_958780.1:p.Ser4469Tyr
NM_201379.2:c.13382C>A	NP_958781.1:p.Ser4461Tyr
NM_201380.3:c.13859C>A	NP_958782.1:p.Ser4620Tyr
NM_201381.2:c.13352C>A	NP_958783.1:p.Ser4451Tyr
NM_201382.3:c.13448C>A	NP_958784.1:p.Ser4483Tyr
NM_201383.2:c.13460C>A	NP_958785.1:p.Ser4487Tyr
NM_201384.2:c.13448C>A	NP_958786.1:p.Ser4483Tyr
XM_005250976.2:c.13874C>A	XP_005251033.1:p.Ser4625Tyr
XM_005250978.2:c.13475C>A	XP_005251035.1:p.Ser4492Tyr
XM_005250979.3:c.13463C>A	XP_005251036.1:p.Ser4488Tyr
XM_005250980.3:c.13463C>A	XP_005251037.1:p.Ser4488Tyr
XM_005250981.2:c.13421C>A	XP_005251038.1:p.Ser4474Tyr
XM_005250982.2:c.13397C>A	XP_005251039.1:p.Ser4466Tyr
XM_005250983.2:c.13379C>A	XP_005251040.1:p.Ser4460Tyr
XM_005250984.3:c.13367C>A	XP_005251041.1:p.Ser4456Tyr
XM_006716588.2:c.13544C>A	XP_006716651.1:p.Ser4515Tyr
XM_006716589.2:c.13394C>A	XP_006716652.1:p.Ser4465Tyr
XM_006716590.2:c.13394C>A	XP_006716653.1:p.Ser4465Tyr
XM_011517130.1:c.13463C>A	XP_011515432.1:p.Ser4488Tyr
XM_011517131.1:c.13379C>A	XP_011515433.1:p.Ser4460Tyr
XM_011517132.1:c.10094C>A	XP_011515434.1:p.Ser3365Tyr
XM_005250976.4:c.13874C>A	XP_005251033.1:p.Ser4625Tyr
XM_005250978.3:c.13475C>A	XP_005251035.1:p.Ser4492Tyr
XM_005250979.4:c.13463C>A	XP_005251036.1:p.Ser4488Tyr
XM_005250980.4:c.13463C>A	XP_005251037.1:p.Ser4488Tyr
XM_005250981.3:c.13421C>A	XP_005251038.1:p.Ser4474Tyr
XM_005250982.4:c.13397C>A	XP_005251039.1:p.Ser4466Tyr
XM_005250984.5:c.13367C>A	XP_005251041.1:p.Ser4456Tyr
XM_006716588.3:c.13544C>A	XP_006716651.1:p.Ser4515Tyr
XM_006716590.3:c.13394C>A	XP_006716653.1:p.Ser4465Tyr
XM_011517130.2:c.13463C>A	XP_011515432.1:p.Ser4488Tyr
XM_011517131.2:c.13379C>A	XP_011515433.1:p.Ser4460Tyr
XM_011517132.2:c.10094C>A	XP_011515434.1:p.Ser3365Tyr
NM_000445.5:c.13529C>A	NP_000436.2:p.Ser4510Tyr
NM_201378.4:c.13406C>A MANE Plus Clinical	NP_958780.1:p.Ser4469Tyr
NM_201379.3:c.13382C>A	NP_958781.1:p.Ser4461Tyr
NM_201380.4:c.13859C>A	NP_958782.1:p.Ser4620Tyr
NM_201381.3:c.13352C>A	NP_958783.1:p.Ser4451Tyr
NM_201382.4:c.13448C>A	NP_958784.1:p.Ser4483Tyr
NM_201383.3:c.13460C>A	NP_958785.1:p.Ser4487Tyr
NM_201384.3:c.13448C>A MANE Select	NP_958786.1:p.Ser4483Tyr