Canonical Allele Identifier: CA4925290

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143921329C>T , CM000670.2:g.143921329C>T	GRCh38
NC_000008.10:g.144995497C>T , CM000670.1:g.144995497C>T	GRCh37
NC_000008.9:g.145067485C>T	NCBI36
NG_012492.1:g.60417G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.8492G>A MANE Select	NP_958786.1:p.Arg2831Gln
ENST00000345136.8:c.8492G>A MANE Select	ENSP00000344848.3:p.Arg2831Gln
NM_201378.4:c.8450G>A MANE Plus Clinical	NP_958780.1:p.Arg2817Gln
ENST00000356346.7:c.8450G>A MANE Plus Clinical	ENSP00000348702.3:p.Arg2817Gln
NM_000445.4:c.8573G>A	NP_000436.2:p.Arg2858Gln
NM_000445.5:c.8573G>A	NP_000436.2:p.Arg2858Gln
NM_201378.3:c.8450G>A	NP_958780.1:p.Arg2817Gln
NM_201379.2:c.8426G>A	NP_958781.1:p.Arg2809Gln
NM_201379.3:c.8426G>A	NP_958781.1:p.Arg2809Gln
NM_201380.3:c.8903G>A	NP_958782.1:p.Arg2968Gln
NM_201380.4:c.8903G>A	NP_958782.1:p.Arg2968Gln
NM_201381.2:c.8396G>A	NP_958783.1:p.Arg2799Gln
NM_201381.3:c.8396G>A	NP_958783.1:p.Arg2799Gln
NM_201382.3:c.8492G>A	NP_958784.1:p.Arg2831Gln
NM_201382.4:c.8492G>A	NP_958784.1:p.Arg2831Gln
NM_201383.2:c.8504G>A	NP_958785.1:p.Arg2835Gln
NM_201383.3:c.8504G>A	NP_958785.1:p.Arg2835Gln
NM_201384.2:c.8492G>A	NP_958786.1:p.Arg2831Gln
ENST00000322810.8:c.8903G>A	ENSP00000323856.4:p.Arg2968Gln
ENST00000345136.7:c.8492G>A	ENSP00000344848.3:p.Arg2831Gln
ENST00000354589.7:c.8492G>A	ENSP00000346602.3:p.Arg2831Gln
ENST00000354958.6:c.8426G>A	ENSP00000347044.2:p.Arg2809Gln
ENST00000357649.6:c.8504G>A	ENSP00000350277.2:p.Arg2835Gln
ENST00000398774.6:c.8396G>A	ENSP00000381756.2:p.Arg2799Gln
ENST00000436759.6:c.8573G>A	ENSP00000388180.2:p.Arg2858Gln
ENST00000527096.5:c.8561G>A	ENSP00000434583.1:p.Arg2854Gln
ENST00000527303.2:c.5192G>A	ENSP00000433982.2:p.Arg1731Gln
ENST00000528025.6:c.8624G>A	ENSP00000437303.2:p.Arg2875Gln
ENST00000685198.1:c.8543G>A	ENSP00000510528.1:p.Arg2848Gln
ENST00000687971.1:c.8210G>A	ENSP00000510788.1:p.Arg2737Gln
ENST00000693060.1:c.8423G>A	ENSP00000510329.1:p.Arg2808Gln
XM_005250976.2:c.8918G>A	XP_005251033.1:p.Arg2973Gln
XM_005250976.4:c.8918G>A	XP_005251033.1:p.Arg2973Gln
XM_005250978.2:c.8519G>A	XP_005251035.1:p.Arg2840Gln
XM_005250978.3:c.8519G>A	XP_005251035.1:p.Arg2840Gln
XM_005250979.3:c.8507G>A	XP_005251036.1:p.Arg2836Gln
XM_005250979.4:c.8507G>A	XP_005251036.1:p.Arg2836Gln
XM_005250980.3:c.8507G>A	XP_005251037.1:p.Arg2836Gln
XM_005250980.4:c.8507G>A	XP_005251037.1:p.Arg2836Gln
XM_005250981.2:c.8465G>A	XP_005251038.1:p.Arg2822Gln
XM_005250981.3:c.8465G>A	XP_005251038.1:p.Arg2822Gln
XM_005250982.2:c.8441G>A	XP_005251039.1:p.Arg2814Gln
XM_005250982.4:c.8441G>A	XP_005251039.1:p.Arg2814Gln
XM_005250983.2:c.8423G>A	XP_005251040.1:p.Arg2808Gln
XM_005250984.3:c.8411G>A	XP_005251041.1:p.Arg2804Gln
XM_005250984.5:c.8411G>A	XP_005251041.1:p.Arg2804Gln
XM_006716588.2:c.8588G>A	XP_006716651.1:p.Arg2863Gln
XM_006716588.3:c.8588G>A	XP_006716651.1:p.Arg2863Gln
XM_006716589.2:c.8438G>A	XP_006716652.1:p.Arg2813Gln
XM_006716590.2:c.8438G>A	XP_006716653.1:p.Arg2813Gln
XM_006716590.3:c.8438G>A	XP_006716653.1:p.Arg2813Gln
XM_011517130.1:c.8507G>A	XP_011515432.1:p.Arg2836Gln
XM_011517130.2:c.8507G>A	XP_011515432.1:p.Arg2836Gln
XM_011517131.1:c.8423G>A	XP_011515433.1:p.Arg2808Gln
XM_011517131.2:c.8423G>A	XP_011515433.1:p.Arg2808Gln
XM_011517132.1:c.5138G>A	XP_011515434.1:p.Arg1713Gln
XM_011517132.2:c.5138G>A	XP_011515434.1:p.Arg1713Gln