Canonical Allele Identifier: CA372474568

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916409-G-A
• MyVariant Identifiers: chr8:g.144990577G>A (hg19) ; chr8:g.143916409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916409G>A , CM000670.2:g.143916409G>A	GRCh38
NC_000008.10:g.144990577G>A , CM000670.1:g.144990577G>A	GRCh37
NC_000008.9:g.145062565G>A	NCBI36
NG_012492.1:g.65337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13544C>T	ENSP00000437303.2:p.Thr4515Ile
ENST00000685198.1:c.13463C>T	ENSP00000510528.1:p.Thr4488Ile
ENST00000687971.1:c.13130C>T	ENSP00000510788.1:p.Thr4377Ile
ENST00000693060.1:c.13343C>T	ENSP00000510329.1:p.Thr4448Ile
ENST00000345136.8:c.13412C>T MANE Select	ENSP00000344848.3:p.Thr4471Ile
ENST00000527303.2:c.10112C>T	ENSP00000433982.2:p.Thr3371Ile
ENST00000322810.8:c.13823C>T	ENSP00000323856.4:p.Thr4608Ile
ENST00000345136.7:c.13412C>T	ENSP00000344848.3:p.Thr4471Ile
ENST00000354589.7:c.13412C>T	ENSP00000346602.3:p.Thr4471Ile
ENST00000354958.6:c.13346C>T	ENSP00000347044.2:p.Thr4449Ile
ENST00000356346.7:c.13370C>T MANE Plus Clinical	ENSP00000348702.3:p.Thr4457Ile
ENST00000357649.6:c.13424C>T	ENSP00000350277.2:p.Thr4475Ile
ENST00000398774.6:c.13316C>T	ENSP00000381756.2:p.Thr4439Ile
ENST00000436759.6:c.13493C>T	ENSP00000388180.2:p.Thr4498Ile
ENST00000527096.5:c.13481C>T	ENSP00000434583.1:p.Thr4494Ile
NM_000445.4:c.13493C>T	NP_000436.2:p.Thr4498Ile
NM_201378.3:c.13370C>T	NP_958780.1:p.Thr4457Ile
NM_201379.2:c.13346C>T	NP_958781.1:p.Thr4449Ile
NM_201380.3:c.13823C>T	NP_958782.1:p.Thr4608Ile
NM_201381.2:c.13316C>T	NP_958783.1:p.Thr4439Ile
NM_201382.3:c.13412C>T	NP_958784.1:p.Thr4471Ile
NM_201383.2:c.13424C>T	NP_958785.1:p.Thr4475Ile
NM_201384.2:c.13412C>T	NP_958786.1:p.Thr4471Ile
XM_005250976.2:c.13838C>T	XP_005251033.1:p.Thr4613Ile
XM_005250978.2:c.13439C>T	XP_005251035.1:p.Thr4480Ile
XM_005250979.3:c.13427C>T	XP_005251036.1:p.Thr4476Ile
XM_005250980.3:c.13427C>T	XP_005251037.1:p.Thr4476Ile
XM_005250981.2:c.13385C>T	XP_005251038.1:p.Thr4462Ile
XM_005250982.2:c.13361C>T	XP_005251039.1:p.Thr4454Ile
XM_005250983.2:c.13343C>T	XP_005251040.1:p.Thr4448Ile
XM_005250984.3:c.13331C>T	XP_005251041.1:p.Thr4444Ile
XM_006716588.2:c.13508C>T	XP_006716651.1:p.Thr4503Ile
XM_006716589.2:c.13358C>T	XP_006716652.1:p.Thr4453Ile
XM_006716590.2:c.13358C>T	XP_006716653.1:p.Thr4453Ile
XM_011517130.1:c.13427C>T	XP_011515432.1:p.Thr4476Ile
XM_011517131.1:c.13343C>T	XP_011515433.1:p.Thr4448Ile
XM_011517132.1:c.10058C>T	XP_011515434.1:p.Thr3353Ile
XM_005250976.4:c.13838C>T	XP_005251033.1:p.Thr4613Ile
XM_005250978.3:c.13439C>T	XP_005251035.1:p.Thr4480Ile
XM_005250979.4:c.13427C>T	XP_005251036.1:p.Thr4476Ile
XM_005250980.4:c.13427C>T	XP_005251037.1:p.Thr4476Ile
XM_005250981.3:c.13385C>T	XP_005251038.1:p.Thr4462Ile
XM_005250982.4:c.13361C>T	XP_005251039.1:p.Thr4454Ile
XM_005250984.5:c.13331C>T	XP_005251041.1:p.Thr4444Ile
XM_006716588.3:c.13508C>T	XP_006716651.1:p.Thr4503Ile
XM_006716590.3:c.13358C>T	XP_006716653.1:p.Thr4453Ile
XM_011517130.2:c.13427C>T	XP_011515432.1:p.Thr4476Ile
XM_011517131.2:c.13343C>T	XP_011515433.1:p.Thr4448Ile
XM_011517132.2:c.10058C>T	XP_011515434.1:p.Thr3353Ile
NM_000445.5:c.13493C>T	NP_000436.2:p.Thr4498Ile
NM_201378.4:c.13370C>T MANE Plus Clinical	NP_958780.1:p.Thr4457Ile
NM_201379.3:c.13346C>T	NP_958781.1:p.Thr4449Ile
NM_201380.4:c.13823C>T	NP_958782.1:p.Thr4608Ile
NM_201381.3:c.13316C>T	NP_958783.1:p.Thr4439Ile
NM_201382.4:c.13412C>T	NP_958784.1:p.Thr4471Ile
NM_201383.3:c.13424C>T	NP_958785.1:p.Thr4475Ile
NM_201384.3:c.13412C>T MANE Select	NP_958786.1:p.Thr4471Ile