Canonical Allele Identifier: CA372546031

Gene: PLEC

Linked Data

• gnomAD v4: 8-143924598-C-A
• MyVariant Identifiers: chr8:g.144998766C>A (hg19) ; chr8:g.143924598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143924598C>A , CM000670.2:g.143924598C>A	GRCh38
NC_000008.10:g.144998766C>A , CM000670.1:g.144998766C>A	GRCh37
NC_000008.9:g.145070754C>A	NCBI36
NG_012492.1:g.57148G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.5463G>T	ENSP00000437303.2:p.Glu1821Asp
ENST00000685198.1:c.5382G>T	ENSP00000510528.1:p.Glu1794Asp
ENST00000687971.1:c.5049G>T	ENSP00000510788.1:p.Glu1683Asp
ENST00000693060.1:c.5262G>T	ENSP00000510329.1:p.Glu1754Asp
ENST00000345136.8:c.5331G>T MANE Select	ENSP00000344848.3:p.Glu1777Asp
ENST00000527303.2:c.4125+2186G>T	ENSP00000433982.2:n.4125+2186G>T
ENST00000322810.8:c.5742G>T	ENSP00000323856.4:p.Glu1914Asp
ENST00000345136.7:c.5331G>T	ENSP00000344848.3:p.Glu1777Asp
ENST00000354589.7:c.5331G>T	ENSP00000346602.3:p.Glu1777Asp
ENST00000354958.6:c.5265G>T	ENSP00000347044.2:p.Glu1755Asp
ENST00000356346.7:c.5289G>T MANE Plus Clinical	ENSP00000348702.3:p.Glu1763Asp
ENST00000357649.6:c.5343G>T	ENSP00000350277.2:p.Glu1781Asp
ENST00000398774.6:c.5235G>T	ENSP00000381756.2:p.Glu1745Asp
ENST00000436759.6:c.5412G>T	ENSP00000388180.2:p.Glu1804Asp
ENST00000527096.5:c.5400G>T	ENSP00000434583.1:p.Glu1800Asp
ENST00000527303.1:c.134+2186G>T
NM_000445.4:c.5412G>T	NP_000436.2:p.Glu1804Asp
NM_201378.3:c.5289G>T	NP_958780.1:p.Glu1763Asp
NM_201379.2:c.5265G>T	NP_958781.1:p.Glu1755Asp
NM_201380.3:c.5742G>T	NP_958782.1:p.Glu1914Asp
NM_201381.2:c.5235G>T	NP_958783.1:p.Glu1745Asp
NM_201382.3:c.5331G>T	NP_958784.1:p.Glu1777Asp
NM_201383.2:c.5343G>T	NP_958785.1:p.Glu1781Asp
NM_201384.2:c.5331G>T	NP_958786.1:p.Glu1777Asp
XM_005250976.2:c.5757G>T	XP_005251033.1:p.Glu1919Asp
XM_005250978.2:c.5358G>T	XP_005251035.1:p.Glu1786Asp
XM_005250979.3:c.5346G>T	XP_005251036.1:p.Glu1782Asp
XM_005250980.3:c.5346G>T	XP_005251037.1:p.Glu1782Asp
XM_005250981.2:c.5304G>T	XP_005251038.1:p.Glu1768Asp
XM_005250982.2:c.5280G>T	XP_005251039.1:p.Glu1760Asp
XM_005250983.2:c.5262G>T	XP_005251040.1:p.Glu1754Asp
XM_005250984.3:c.5250G>T	XP_005251041.1:p.Glu1750Asp
XM_006716588.2:c.5427G>T	XP_006716651.1:p.Glu1809Asp
XM_006716589.2:c.5277G>T	XP_006716652.1:p.Glu1759Asp
XM_006716590.2:c.5277G>T	XP_006716653.1:p.Glu1759Asp
XM_011517130.1:c.5346G>T	XP_011515432.1:p.Glu1782Asp
XM_011517131.1:c.5262G>T	XP_011515433.1:p.Glu1754Asp
XM_011517132.1:c.4071+2186G>T	XP_011515434.1:n.4071+2186G>T
XM_005250976.4:c.5757G>T	XP_005251033.1:p.Glu1919Asp
XM_005250978.3:c.5358G>T	XP_005251035.1:p.Glu1786Asp
XM_005250979.4:c.5346G>T	XP_005251036.1:p.Glu1782Asp
XM_005250980.4:c.5346G>T	XP_005251037.1:p.Glu1782Asp
XM_005250981.3:c.5304G>T	XP_005251038.1:p.Glu1768Asp
XM_005250982.4:c.5280G>T	XP_005251039.1:p.Glu1760Asp
XM_005250984.5:c.5250G>T	XP_005251041.1:p.Glu1750Asp
XM_006716588.3:c.5427G>T	XP_006716651.1:p.Glu1809Asp
XM_006716590.3:c.5277G>T	XP_006716653.1:p.Glu1759Asp
XM_011517130.2:c.5346G>T	XP_011515432.1:p.Glu1782Asp
XM_011517131.2:c.5262G>T	XP_011515433.1:p.Glu1754Asp
XM_011517132.2:c.4071+2186G>T	XP_011515434.1:n.4071+2186G>T
NM_000445.5:c.5412G>T	NP_000436.2:p.Glu1804Asp
NM_201378.4:c.5289G>T MANE Plus Clinical	NP_958780.1:p.Glu1763Asp
NM_201379.3:c.5265G>T	NP_958781.1:p.Glu1755Asp
NM_201380.4:c.5742G>T	NP_958782.1:p.Glu1914Asp
NM_201381.3:c.5235G>T	NP_958783.1:p.Glu1745Asp
NM_201382.4:c.5331G>T	NP_958784.1:p.Glu1777Asp
NM_201383.3:c.5343G>T	NP_958785.1:p.Glu1781Asp
NM_201384.3:c.5331G>T MANE Select	NP_958786.1:p.Glu1777Asp