Canonical Allele Identifier: CA4925009

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143920526C>T , CM000670.2:g.143920526C>T	GRCh38
NC_000008.10:g.144994694C>T , CM000670.1:g.144994694C>T	GRCh37
NC_000008.9:g.145066682C>T	NCBI36
NG_012492.1:g.61220G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.9295G>A MANE Select	NP_958786.1:p.Glu3099Lys
ENST00000345136.8:c.9295G>A MANE Select	ENSP00000344848.3:p.Glu3099Lys
NM_201378.4:c.9253G>A MANE Plus Clinical	NP_958780.1:p.Glu3085Lys
ENST00000356346.7:c.9253G>A MANE Plus Clinical	ENSP00000348702.3:p.Glu3085Lys
NM_000445.4:c.9376G>A	NP_000436.2:p.Glu3126Lys
NM_000445.5:c.9376G>A	NP_000436.2:p.Glu3126Lys
NM_201378.3:c.9253G>A	NP_958780.1:p.Glu3085Lys
NM_201379.2:c.9229G>A	NP_958781.1:p.Glu3077Lys
NM_201379.3:c.9229G>A	NP_958781.1:p.Glu3077Lys
NM_201380.3:c.9706G>A	NP_958782.1:p.Glu3236Lys
NM_201380.4:c.9706G>A	NP_958782.1:p.Glu3236Lys
NM_201381.2:c.9199G>A	NP_958783.1:p.Glu3067Lys
NM_201381.3:c.9199G>A	NP_958783.1:p.Glu3067Lys
NM_201382.3:c.9295G>A	NP_958784.1:p.Glu3099Lys
NM_201382.4:c.9295G>A	NP_958784.1:p.Glu3099Lys
NM_201383.2:c.9307G>A	NP_958785.1:p.Glu3103Lys
NM_201383.3:c.9307G>A	NP_958785.1:p.Glu3103Lys
NM_201384.2:c.9295G>A	NP_958786.1:p.Glu3099Lys
ENST00000322810.8:c.9706G>A	ENSP00000323856.4:p.Glu3236Lys
ENST00000345136.7:c.9295G>A	ENSP00000344848.3:p.Glu3099Lys
ENST00000354589.7:c.9295G>A	ENSP00000346602.3:p.Glu3099Lys
ENST00000354958.6:c.9229G>A	ENSP00000347044.2:p.Glu3077Lys
ENST00000357649.6:c.9307G>A	ENSP00000350277.2:p.Glu3103Lys
ENST00000398774.6:c.9199G>A	ENSP00000381756.2:p.Glu3067Lys
ENST00000436759.6:c.9376G>A	ENSP00000388180.2:p.Glu3126Lys
ENST00000527096.5:c.9364G>A	ENSP00000434583.1:p.Glu3122Lys
ENST00000527303.2:c.5995G>A	ENSP00000433982.2:p.Glu1999Lys
ENST00000528025.6:c.9427G>A	ENSP00000437303.2:p.Glu3143Lys
ENST00000685198.1:c.9346G>A	ENSP00000510528.1:p.Glu3116Lys
ENST00000687971.1:c.9013G>A	ENSP00000510788.1:p.Glu3005Lys
ENST00000693060.1:c.9226G>A	ENSP00000510329.1:p.Glu3076Lys
XM_005250976.2:c.9721G>A	XP_005251033.1:p.Glu3241Lys
XM_005250976.4:c.9721G>A	XP_005251033.1:p.Glu3241Lys
XM_005250978.2:c.9322G>A	XP_005251035.1:p.Glu3108Lys
XM_005250978.3:c.9322G>A	XP_005251035.1:p.Glu3108Lys
XM_005250979.3:c.9310G>A	XP_005251036.1:p.Glu3104Lys
XM_005250979.4:c.9310G>A	XP_005251036.1:p.Glu3104Lys
XM_005250980.3:c.9310G>A	XP_005251037.1:p.Glu3104Lys
XM_005250980.4:c.9310G>A	XP_005251037.1:p.Glu3104Lys
XM_005250981.2:c.9268G>A	XP_005251038.1:p.Glu3090Lys
XM_005250981.3:c.9268G>A	XP_005251038.1:p.Glu3090Lys
XM_005250982.2:c.9244G>A	XP_005251039.1:p.Glu3082Lys
XM_005250982.4:c.9244G>A	XP_005251039.1:p.Glu3082Lys
XM_005250983.2:c.9226G>A	XP_005251040.1:p.Glu3076Lys
XM_005250984.3:c.9214G>A	XP_005251041.1:p.Glu3072Lys
XM_005250984.5:c.9214G>A	XP_005251041.1:p.Glu3072Lys
XM_006716588.2:c.9391G>A	XP_006716651.1:p.Glu3131Lys
XM_006716588.3:c.9391G>A	XP_006716651.1:p.Glu3131Lys
XM_006716589.2:c.9241G>A	XP_006716652.1:p.Glu3081Lys
XM_006716590.2:c.9241G>A	XP_006716653.1:p.Glu3081Lys
XM_006716590.3:c.9241G>A	XP_006716653.1:p.Glu3081Lys
XM_011517130.1:c.9310G>A	XP_011515432.1:p.Glu3104Lys
XM_011517130.2:c.9310G>A	XP_011515432.1:p.Glu3104Lys
XM_011517131.1:c.9226G>A	XP_011515433.1:p.Glu3076Lys
XM_011517131.2:c.9226G>A	XP_011515433.1:p.Glu3076Lys
XM_011517132.1:c.5941G>A	XP_011515434.1:p.Glu1981Lys
XM_011517132.2:c.5941G>A	XP_011515434.1:p.Glu1981Lys