Canonical Allele Identifier: CA372476200

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990820A>T (hg19) ; chr8:g.143916652A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916652A>T , CM000670.2:g.143916652A>T	GRCh38
NC_000008.10:g.144990820A>T , CM000670.1:g.144990820A>T	GRCh37
NC_000008.9:g.145062808A>T	NCBI36
NG_012492.1:g.65094T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13301T>A	ENSP00000437303.2:p.Val4434Glu
ENST00000685198.1:c.13220T>A	ENSP00000510528.1:p.Val4407Glu
ENST00000687971.1:c.12887T>A	ENSP00000510788.1:p.Val4296Glu
ENST00000693060.1:c.13100T>A	ENSP00000510329.1:p.Val4367Glu
ENST00000345136.8:c.13169T>A MANE Select	ENSP00000344848.3:p.Val4390Glu
ENST00000527303.2:c.9869T>A	ENSP00000433982.2:p.Val3290Glu
ENST00000322810.8:c.13580T>A	ENSP00000323856.4:p.Val4527Glu
ENST00000345136.7:c.13169T>A	ENSP00000344848.3:p.Val4390Glu
ENST00000354589.7:c.13169T>A	ENSP00000346602.3:p.Val4390Glu
ENST00000354958.6:c.13103T>A	ENSP00000347044.2:p.Val4368Glu
ENST00000356346.7:c.13127T>A MANE Plus Clinical	ENSP00000348702.3:p.Val4376Glu
ENST00000357649.6:c.13181T>A	ENSP00000350277.2:p.Val4394Glu
ENST00000398774.6:c.13073T>A	ENSP00000381756.2:p.Val4358Glu
ENST00000436759.6:c.13250T>A	ENSP00000388180.2:p.Val4417Glu
ENST00000527096.5:c.13238T>A	ENSP00000434583.1:p.Val4413Glu
NM_000445.4:c.13250T>A	NP_000436.2:p.Val4417Glu
NM_201378.3:c.13127T>A	NP_958780.1:p.Val4376Glu
NM_201379.2:c.13103T>A	NP_958781.1:p.Val4368Glu
NM_201380.3:c.13580T>A	NP_958782.1:p.Val4527Glu
NM_201381.2:c.13073T>A	NP_958783.1:p.Val4358Glu
NM_201382.3:c.13169T>A	NP_958784.1:p.Val4390Glu
NM_201383.2:c.13181T>A	NP_958785.1:p.Val4394Glu
NM_201384.2:c.13169T>A	NP_958786.1:p.Val4390Glu
XM_005250976.2:c.13595T>A	XP_005251033.1:p.Val4532Glu
XM_005250978.2:c.13196T>A	XP_005251035.1:p.Val4399Glu
XM_005250979.3:c.13184T>A	XP_005251036.1:p.Val4395Glu
XM_005250980.3:c.13184T>A	XP_005251037.1:p.Val4395Glu
XM_005250981.2:c.13142T>A	XP_005251038.1:p.Val4381Glu
XM_005250982.2:c.13118T>A	XP_005251039.1:p.Val4373Glu
XM_005250983.2:c.13100T>A	XP_005251040.1:p.Val4367Glu
XM_005250984.3:c.13088T>A	XP_005251041.1:p.Val4363Glu
XM_006716588.2:c.13265T>A	XP_006716651.1:p.Val4422Glu
XM_006716589.2:c.13115T>A	XP_006716652.1:p.Val4372Glu
XM_006716590.2:c.13115T>A	XP_006716653.1:p.Val4372Glu
XM_011517130.1:c.13184T>A	XP_011515432.1:p.Val4395Glu
XM_011517131.1:c.13100T>A	XP_011515433.1:p.Val4367Glu
XM_011517132.1:c.9815T>A	XP_011515434.1:p.Val3272Glu
XM_005250976.4:c.13595T>A	XP_005251033.1:p.Val4532Glu
XM_005250978.3:c.13196T>A	XP_005251035.1:p.Val4399Glu
XM_005250979.4:c.13184T>A	XP_005251036.1:p.Val4395Glu
XM_005250980.4:c.13184T>A	XP_005251037.1:p.Val4395Glu
XM_005250981.3:c.13142T>A	XP_005251038.1:p.Val4381Glu
XM_005250982.4:c.13118T>A	XP_005251039.1:p.Val4373Glu
XM_005250984.5:c.13088T>A	XP_005251041.1:p.Val4363Glu
XM_006716588.3:c.13265T>A	XP_006716651.1:p.Val4422Glu
XM_006716590.3:c.13115T>A	XP_006716653.1:p.Val4372Glu
XM_011517130.2:c.13184T>A	XP_011515432.1:p.Val4395Glu
XM_011517131.2:c.13100T>A	XP_011515433.1:p.Val4367Glu
XM_011517132.2:c.9815T>A	XP_011515434.1:p.Val3272Glu
NM_000445.5:c.13250T>A	NP_000436.2:p.Val4417Glu
NM_201378.4:c.13127T>A MANE Plus Clinical	NP_958780.1:p.Val4376Glu
NM_201379.3:c.13103T>A	NP_958781.1:p.Val4368Glu
NM_201380.4:c.13580T>A	NP_958782.1:p.Val4527Glu
NM_201381.3:c.13073T>A	NP_958783.1:p.Val4358Glu
NM_201382.4:c.13169T>A	NP_958784.1:p.Val4390Glu
NM_201383.3:c.13181T>A	NP_958785.1:p.Val4394Glu
NM_201384.3:c.13169T>A MANE Select	NP_958786.1:p.Val4390Glu