Canonical Allele Identifier: CA4926116

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143923850G>A , CM000670.2:g.143923850G>A	GRCh38
NC_000008.10:g.144998018G>A , CM000670.1:g.144998018G>A	GRCh37
NC_000008.9:g.145070006G>A	NCBI36
NG_012492.1:g.57896C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.6079C>T MANE Select	NP_958786.1:p.Arg2027Ter
ENST00000345136.8:c.6079C>T MANE Select	ENSP00000344848.3:p.Arg2027Ter
NM_201378.4:c.6037C>T MANE Plus Clinical	NP_958780.1:p.Arg2013Ter
ENST00000356346.7:c.6037C>T MANE Plus Clinical	ENSP00000348702.3:p.Arg2013Ter
NM_000445.4:c.6160C>T	NP_000436.2:p.Arg2054Ter
NM_000445.5:c.6160C>T	NP_000436.2:p.Arg2054Ter
NM_201378.3:c.6037C>T	NP_958780.1:p.Arg2013Ter
NM_201379.2:c.6013C>T	NP_958781.1:p.Arg2005Ter
NM_201379.3:c.6013C>T	NP_958781.1:p.Arg2005Ter
NM_201380.3:c.6490C>T	NP_958782.1:p.Arg2164Ter
NM_201380.4:c.6490C>T	NP_958782.1:p.Arg2164Ter
NM_201381.2:c.5983C>T	NP_958783.1:p.Arg1995Ter
NM_201381.3:c.5983C>T	NP_958783.1:p.Arg1995Ter
NM_201382.3:c.6079C>T	NP_958784.1:p.Arg2027Ter
NM_201382.4:c.6079C>T	NP_958784.1:p.Arg2027Ter
NM_201383.2:c.6091C>T	NP_958785.1:p.Arg2031Ter
NM_201383.3:c.6091C>T	NP_958785.1:p.Arg2031Ter
NM_201384.2:c.6079C>T	NP_958786.1:p.Arg2027Ter
ENST00000322810.8:c.6490C>T	ENSP00000323856.4:p.Arg2164Ter
ENST00000345136.7:c.6079C>T	ENSP00000344848.3:p.Arg2027Ter
ENST00000354589.7:c.6079C>T	ENSP00000346602.3:p.Arg2027Ter
ENST00000354958.6:c.6013C>T	ENSP00000347044.2:p.Arg2005Ter
ENST00000357649.6:c.6091C>T	ENSP00000350277.2:p.Arg2031Ter
ENST00000398774.6:c.5983C>T	ENSP00000381756.2:p.Arg1995Ter
ENST00000436759.6:c.6160C>T	ENSP00000388180.2:p.Arg2054Ter
ENST00000527096.5:c.6148C>T	ENSP00000434583.1:p.Arg2050Ter
ENST00000527303.1:c.135-1455C>T
ENST00000527303.2:c.4126-1455C>T	ENSP00000433982.2:n.4126-1455C>T
ENST00000528025.6:c.6211C>T	ENSP00000437303.2:p.Arg2071Ter
ENST00000685198.1:c.6130C>T	ENSP00000510528.1:p.Arg2044Ter
ENST00000687971.1:c.5797C>T	ENSP00000510788.1:p.Arg1933Ter
ENST00000693060.1:c.6010C>T	ENSP00000510329.1:p.Arg2004Ter
XM_005250976.2:c.6505C>T	XP_005251033.1:p.Arg2169Ter
XM_005250976.4:c.6505C>T	XP_005251033.1:p.Arg2169Ter
XM_005250978.2:c.6106C>T	XP_005251035.1:p.Arg2036Ter
XM_005250978.3:c.6106C>T	XP_005251035.1:p.Arg2036Ter
XM_005250979.3:c.6094C>T	XP_005251036.1:p.Arg2032Ter
XM_005250979.4:c.6094C>T	XP_005251036.1:p.Arg2032Ter
XM_005250980.3:c.6094C>T	XP_005251037.1:p.Arg2032Ter
XM_005250980.4:c.6094C>T	XP_005251037.1:p.Arg2032Ter
XM_005250981.2:c.6052C>T	XP_005251038.1:p.Arg2018Ter
XM_005250981.3:c.6052C>T	XP_005251038.1:p.Arg2018Ter
XM_005250982.2:c.6028C>T	XP_005251039.1:p.Arg2010Ter
XM_005250982.4:c.6028C>T	XP_005251039.1:p.Arg2010Ter
XM_005250983.2:c.6010C>T	XP_005251040.1:p.Arg2004Ter
XM_005250984.3:c.5998C>T	XP_005251041.1:p.Arg2000Ter
XM_005250984.5:c.5998C>T	XP_005251041.1:p.Arg2000Ter
XM_006716588.2:c.6175C>T	XP_006716651.1:p.Arg2059Ter
XM_006716588.3:c.6175C>T	XP_006716651.1:p.Arg2059Ter
XM_006716589.2:c.6025C>T	XP_006716652.1:p.Arg2009Ter
XM_006716590.2:c.6025C>T	XP_006716653.1:p.Arg2009Ter
XM_006716590.3:c.6025C>T	XP_006716653.1:p.Arg2009Ter
XM_011517130.1:c.6094C>T	XP_011515432.1:p.Arg2032Ter
XM_011517130.2:c.6094C>T	XP_011515432.1:p.Arg2032Ter
XM_011517131.1:c.6010C>T	XP_011515433.1:p.Arg2004Ter
XM_011517131.2:c.6010C>T	XP_011515433.1:p.Arg2004Ter
XM_011517132.1:c.4072-1455C>T	XP_011515434.1:n.4072-1455C>T
XM_011517132.2:c.4072-1455C>T	XP_011515434.1:n.4072-1455C>T