Canonical Allele Identifier: CA4925464

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143921845T>C , CM000670.2:g.143921845T>C	GRCh38
NC_000008.10:g.144996013T>C , CM000670.1:g.144996013T>C	GRCh37
NC_000008.9:g.145068001T>C	NCBI36
NG_012492.1:g.59901A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.7976A>G MANE Select	NP_958786.1:p.Gln2659Arg
ENST00000345136.8:c.7976A>G MANE Select	ENSP00000344848.3:p.Gln2659Arg
NM_201378.4:c.7934A>G MANE Plus Clinical	NP_958780.1:p.Gln2645Arg
ENST00000356346.7:c.7934A>G MANE Plus Clinical	ENSP00000348702.3:p.Gln2645Arg
NM_000445.4:c.8057A>G	NP_000436.2:p.Gln2686Arg
NM_000445.5:c.8057A>G	NP_000436.2:p.Gln2686Arg
NM_201378.3:c.7934A>G	NP_958780.1:p.Gln2645Arg
NM_201379.2:c.7910A>G	NP_958781.1:p.Gln2637Arg
NM_201379.3:c.7910A>G	NP_958781.1:p.Gln2637Arg
NM_201380.3:c.8387A>G	NP_958782.1:p.Gln2796Arg
NM_201380.4:c.8387A>G	NP_958782.1:p.Gln2796Arg
NM_201381.2:c.7880A>G	NP_958783.1:p.Gln2627Arg
NM_201381.3:c.7880A>G	NP_958783.1:p.Gln2627Arg
NM_201382.3:c.7976A>G	NP_958784.1:p.Gln2659Arg
NM_201382.4:c.7976A>G	NP_958784.1:p.Gln2659Arg
NM_201383.2:c.7988A>G	NP_958785.1:p.Gln2663Arg
NM_201383.3:c.7988A>G	NP_958785.1:p.Gln2663Arg
NM_201384.2:c.7976A>G	NP_958786.1:p.Gln2659Arg
ENST00000322810.8:c.8387A>G	ENSP00000323856.4:p.Gln2796Arg
ENST00000345136.7:c.7976A>G	ENSP00000344848.3:p.Gln2659Arg
ENST00000354589.7:c.7976A>G	ENSP00000346602.3:p.Gln2659Arg
ENST00000354958.6:c.7910A>G	ENSP00000347044.2:p.Gln2637Arg
ENST00000357649.6:c.7988A>G	ENSP00000350277.2:p.Gln2663Arg
ENST00000398774.6:c.7880A>G	ENSP00000381756.2:p.Gln2627Arg
ENST00000436759.6:c.8057A>G	ENSP00000388180.2:p.Gln2686Arg
ENST00000527096.5:c.8045A>G	ENSP00000434583.1:p.Gln2682Arg
ENST00000527303.2:c.4676A>G	ENSP00000433982.2:p.Gln1559Arg
ENST00000528025.6:c.8108A>G	ENSP00000437303.2:p.Gln2703Arg
ENST00000685198.1:c.8027A>G	ENSP00000510528.1:p.Gln2676Arg
ENST00000687971.1:c.7694A>G	ENSP00000510788.1:p.Gln2565Arg
ENST00000693060.1:c.7907A>G	ENSP00000510329.1:p.Gln2636Arg
XM_005250976.2:c.8402A>G	XP_005251033.1:p.Gln2801Arg
XM_005250976.4:c.8402A>G	XP_005251033.1:p.Gln2801Arg
XM_005250978.2:c.8003A>G	XP_005251035.1:p.Gln2668Arg
XM_005250978.3:c.8003A>G	XP_005251035.1:p.Gln2668Arg
XM_005250979.3:c.7991A>G	XP_005251036.1:p.Gln2664Arg
XM_005250979.4:c.7991A>G	XP_005251036.1:p.Gln2664Arg
XM_005250980.3:c.7991A>G	XP_005251037.1:p.Gln2664Arg
XM_005250980.4:c.7991A>G	XP_005251037.1:p.Gln2664Arg
XM_005250981.2:c.7949A>G	XP_005251038.1:p.Gln2650Arg
XM_005250981.3:c.7949A>G	XP_005251038.1:p.Gln2650Arg
XM_005250982.2:c.7925A>G	XP_005251039.1:p.Gln2642Arg
XM_005250982.4:c.7925A>G	XP_005251039.1:p.Gln2642Arg
XM_005250983.2:c.7907A>G	XP_005251040.1:p.Gln2636Arg
XM_005250984.3:c.7895A>G	XP_005251041.1:p.Gln2632Arg
XM_005250984.5:c.7895A>G	XP_005251041.1:p.Gln2632Arg
XM_006716588.2:c.8072A>G	XP_006716651.1:p.Gln2691Arg
XM_006716588.3:c.8072A>G	XP_006716651.1:p.Gln2691Arg
XM_006716589.2:c.7922A>G	XP_006716652.1:p.Gln2641Arg
XM_006716590.2:c.7922A>G	XP_006716653.1:p.Gln2641Arg
XM_006716590.3:c.7922A>G	XP_006716653.1:p.Gln2641Arg
XM_011517130.1:c.7991A>G	XP_011515432.1:p.Gln2664Arg
XM_011517130.2:c.7991A>G	XP_011515432.1:p.Gln2664Arg
XM_011517131.1:c.7907A>G	XP_011515433.1:p.Gln2636Arg
XM_011517131.2:c.7907A>G	XP_011515433.1:p.Gln2636Arg
XM_011517132.1:c.4622A>G	XP_011515434.1:p.Gln1541Arg
XM_011517132.2:c.4622A>G	XP_011515434.1:p.Gln1541Arg