Canonical Allele Identifier: CA372482070

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143917403G>A , CM000670.2:g.143917403G>A	GRCh38
NC_000008.10:g.144991571G>A , CM000670.1:g.144991571G>A	GRCh37
NC_000008.9:g.145063559G>A	NCBI36
NG_012492.1:g.64343C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.12418C>T MANE Select	NP_958786.1:p.Arg4140Ter
ENST00000345136.8:c.12418C>T MANE Select	ENSP00000344848.3:p.Arg4140Ter
NM_201378.4:c.12376C>T MANE Plus Clinical	NP_958780.1:p.Arg4126Ter
ENST00000356346.7:c.12376C>T MANE Plus Clinical	ENSP00000348702.3:p.Arg4126Ter
NM_000445.4:c.12499C>T	NP_000436.2:p.Arg4167Ter
NM_000445.5:c.12499C>T	NP_000436.2:p.Arg4167Ter
NM_201378.3:c.12376C>T	NP_958780.1:p.Arg4126Ter
NM_201379.2:c.12352C>T	NP_958781.1:p.Arg4118Ter
NM_201379.3:c.12352C>T	NP_958781.1:p.Arg4118Ter
NM_201380.3:c.12829C>T	NP_958782.1:p.Arg4277Ter
NM_201380.4:c.12829C>T	NP_958782.1:p.Arg4277Ter
NM_201381.2:c.12322C>T	NP_958783.1:p.Arg4108Ter
NM_201381.3:c.12322C>T	NP_958783.1:p.Arg4108Ter
NM_201382.3:c.12418C>T	NP_958784.1:p.Arg4140Ter
NM_201382.4:c.12418C>T	NP_958784.1:p.Arg4140Ter
NM_201383.2:c.12430C>T	NP_958785.1:p.Arg4144Ter
NM_201383.3:c.12430C>T	NP_958785.1:p.Arg4144Ter
NM_201384.2:c.12418C>T	NP_958786.1:p.Arg4140Ter
ENST00000322810.8:c.12829C>T	ENSP00000323856.4:p.Arg4277Ter
ENST00000345136.7:c.12418C>T	ENSP00000344848.3:p.Arg4140Ter
ENST00000354589.7:c.12418C>T	ENSP00000346602.3:p.Arg4140Ter
ENST00000354958.6:c.12352C>T	ENSP00000347044.2:p.Arg4118Ter
ENST00000357649.6:c.12430C>T	ENSP00000350277.2:p.Arg4144Ter
ENST00000398774.6:c.12322C>T	ENSP00000381756.2:p.Arg4108Ter
ENST00000436759.6:c.12499C>T	ENSP00000388180.2:p.Arg4167Ter
ENST00000527096.5:c.12487C>T	ENSP00000434583.1:p.Arg4163Ter
ENST00000527303.2:c.9118C>T	ENSP00000433982.2:p.Arg3040Ter
ENST00000528025.6:c.12550C>T	ENSP00000437303.2:p.Arg4184Ter
ENST00000685198.1:c.12469C>T	ENSP00000510528.1:p.Arg4157Ter
ENST00000687971.1:c.12136C>T	ENSP00000510788.1:p.Arg4046Ter
ENST00000693060.1:c.12349C>T	ENSP00000510329.1:p.Arg4117Ter
XM_005250976.2:c.12844C>T	XP_005251033.1:p.Arg4282Ter
XM_005250976.4:c.12844C>T	XP_005251033.1:p.Arg4282Ter
XM_005250978.2:c.12445C>T	XP_005251035.1:p.Arg4149Ter
XM_005250978.3:c.12445C>T	XP_005251035.1:p.Arg4149Ter
XM_005250979.3:c.12433C>T	XP_005251036.1:p.Arg4145Ter
XM_005250979.4:c.12433C>T	XP_005251036.1:p.Arg4145Ter
XM_005250980.3:c.12433C>T	XP_005251037.1:p.Arg4145Ter
XM_005250980.4:c.12433C>T	XP_005251037.1:p.Arg4145Ter
XM_005250981.2:c.12391C>T	XP_005251038.1:p.Arg4131Ter
XM_005250981.3:c.12391C>T	XP_005251038.1:p.Arg4131Ter
XM_005250982.2:c.12367C>T	XP_005251039.1:p.Arg4123Ter
XM_005250982.4:c.12367C>T	XP_005251039.1:p.Arg4123Ter
XM_005250983.2:c.12349C>T	XP_005251040.1:p.Arg4117Ter
XM_005250984.3:c.12337C>T	XP_005251041.1:p.Arg4113Ter
XM_005250984.5:c.12337C>T	XP_005251041.1:p.Arg4113Ter
XM_006716588.2:c.12514C>T	XP_006716651.1:p.Arg4172Ter
XM_006716588.3:c.12514C>T	XP_006716651.1:p.Arg4172Ter
XM_006716589.2:c.12364C>T	XP_006716652.1:p.Arg4122Ter
XM_006716590.2:c.12364C>T	XP_006716653.1:p.Arg4122Ter
XM_006716590.3:c.12364C>T	XP_006716653.1:p.Arg4122Ter
XM_011517130.1:c.12433C>T	XP_011515432.1:p.Arg4145Ter
XM_011517130.2:c.12433C>T	XP_011515432.1:p.Arg4145Ter
XM_011517131.1:c.12349C>T	XP_011515433.1:p.Arg4117Ter
XM_011517131.2:c.12349C>T	XP_011515433.1:p.Arg4117Ter
XM_011517132.1:c.9064C>T	XP_011515434.1:p.Arg3022Ter
XM_011517132.2:c.9064C>T	XP_011515434.1:p.Arg3022Ter