Canonical Allele Identifier: CA372475662

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990673T>C (hg19) ; chr8:g.143916505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916505T>C , CM000670.2:g.143916505T>C	GRCh38
NC_000008.10:g.144990673T>C , CM000670.1:g.144990673T>C	GRCh37
NC_000008.9:g.145062661T>C	NCBI36
NG_012492.1:g.65241A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13448A>G	ENSP00000437303.2:p.Lys4483Arg
ENST00000685198.1:c.13367A>G	ENSP00000510528.1:p.Lys4456Arg
ENST00000687971.1:c.13034A>G	ENSP00000510788.1:p.Lys4345Arg
ENST00000693060.1:c.13247A>G	ENSP00000510329.1:p.Lys4416Arg
ENST00000345136.8:c.13316A>G MANE Select	ENSP00000344848.3:p.Lys4439Arg
ENST00000527303.2:c.10016A>G	ENSP00000433982.2:p.Lys3339Arg
ENST00000322810.8:c.13727A>G	ENSP00000323856.4:p.Lys4576Arg
ENST00000345136.7:c.13316A>G	ENSP00000344848.3:p.Lys4439Arg
ENST00000354589.7:c.13316A>G	ENSP00000346602.3:p.Lys4439Arg
ENST00000354958.6:c.13250A>G	ENSP00000347044.2:p.Lys4417Arg
ENST00000356346.7:c.13274A>G MANE Plus Clinical	ENSP00000348702.3:p.Lys4425Arg
ENST00000357649.6:c.13328A>G	ENSP00000350277.2:p.Lys4443Arg
ENST00000398774.6:c.13220A>G	ENSP00000381756.2:p.Lys4407Arg
ENST00000436759.6:c.13397A>G	ENSP00000388180.2:p.Lys4466Arg
ENST00000527096.5:c.13385A>G	ENSP00000434583.1:p.Lys4462Arg
NM_000445.4:c.13397A>G	NP_000436.2:p.Lys4466Arg
NM_201378.3:c.13274A>G	NP_958780.1:p.Lys4425Arg
NM_201379.2:c.13250A>G	NP_958781.1:p.Lys4417Arg
NM_201380.3:c.13727A>G	NP_958782.1:p.Lys4576Arg
NM_201381.2:c.13220A>G	NP_958783.1:p.Lys4407Arg
NM_201382.3:c.13316A>G	NP_958784.1:p.Lys4439Arg
NM_201383.2:c.13328A>G	NP_958785.1:p.Lys4443Arg
NM_201384.2:c.13316A>G	NP_958786.1:p.Lys4439Arg
XM_005250976.2:c.13742A>G	XP_005251033.1:p.Lys4581Arg
XM_005250978.2:c.13343A>G	XP_005251035.1:p.Lys4448Arg
XM_005250979.3:c.13331A>G	XP_005251036.1:p.Lys4444Arg
XM_005250980.3:c.13331A>G	XP_005251037.1:p.Lys4444Arg
XM_005250981.2:c.13289A>G	XP_005251038.1:p.Lys4430Arg
XM_005250982.2:c.13265A>G	XP_005251039.1:p.Lys4422Arg
XM_005250983.2:c.13247A>G	XP_005251040.1:p.Lys4416Arg
XM_005250984.3:c.13235A>G	XP_005251041.1:p.Lys4412Arg
XM_006716588.2:c.13412A>G	XP_006716651.1:p.Lys4471Arg
XM_006716589.2:c.13262A>G	XP_006716652.1:p.Lys4421Arg
XM_006716590.2:c.13262A>G	XP_006716653.1:p.Lys4421Arg
XM_011517130.1:c.13331A>G	XP_011515432.1:p.Lys4444Arg
XM_011517131.1:c.13247A>G	XP_011515433.1:p.Lys4416Arg
XM_011517132.1:c.9962A>G	XP_011515434.1:p.Lys3321Arg
XM_005250976.4:c.13742A>G	XP_005251033.1:p.Lys4581Arg
XM_005250978.3:c.13343A>G	XP_005251035.1:p.Lys4448Arg
XM_005250979.4:c.13331A>G	XP_005251036.1:p.Lys4444Arg
XM_005250980.4:c.13331A>G	XP_005251037.1:p.Lys4444Arg
XM_005250981.3:c.13289A>G	XP_005251038.1:p.Lys4430Arg
XM_005250982.4:c.13265A>G	XP_005251039.1:p.Lys4422Arg
XM_005250984.5:c.13235A>G	XP_005251041.1:p.Lys4412Arg
XM_006716588.3:c.13412A>G	XP_006716651.1:p.Lys4471Arg
XM_006716590.3:c.13262A>G	XP_006716653.1:p.Lys4421Arg
XM_011517130.2:c.13331A>G	XP_011515432.1:p.Lys4444Arg
XM_011517131.2:c.13247A>G	XP_011515433.1:p.Lys4416Arg
XM_011517132.2:c.9962A>G	XP_011515434.1:p.Lys3321Arg
NM_000445.5:c.13397A>G	NP_000436.2:p.Lys4466Arg
NM_201378.4:c.13274A>G MANE Plus Clinical	NP_958780.1:p.Lys4425Arg
NM_201379.3:c.13250A>G	NP_958781.1:p.Lys4417Arg
NM_201380.4:c.13727A>G	NP_958782.1:p.Lys4576Arg
NM_201381.3:c.13220A>G	NP_958783.1:p.Lys4407Arg
NM_201382.4:c.13316A>G	NP_958784.1:p.Lys4439Arg
NM_201383.3:c.13328A>G	NP_958785.1:p.Lys4443Arg
NM_201384.3:c.13316A>G MANE Select	NP_958786.1:p.Lys4439Arg