Canonical Allele Identifier: CA4925537

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143922118C>T , CM000670.2:g.143922118C>T	GRCh38
NC_000008.10:g.144996286C>T , CM000670.1:g.144996286C>T	GRCh37
NC_000008.9:g.145068274C>T	NCBI36
NG_012492.1:g.59628G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.7703G>A MANE Select	NP_958786.1:p.Arg2568His
ENST00000345136.8:c.7703G>A MANE Select	ENSP00000344848.3:p.Arg2568His
NM_201378.4:c.7661G>A MANE Plus Clinical	NP_958780.1:p.Arg2554His
ENST00000356346.7:c.7661G>A MANE Plus Clinical	ENSP00000348702.3:p.Arg2554His
NM_000445.4:c.7784G>A	NP_000436.2:p.Arg2595His
NM_000445.5:c.7784G>A	NP_000436.2:p.Arg2595His
NM_201378.3:c.7661G>A	NP_958780.1:p.Arg2554His
NM_201379.2:c.7637G>A	NP_958781.1:p.Arg2546His
NM_201379.3:c.7637G>A	NP_958781.1:p.Arg2546His
NM_201380.3:c.8114G>A	NP_958782.1:p.Arg2705His
NM_201380.4:c.8114G>A	NP_958782.1:p.Arg2705His
NM_201381.2:c.7607G>A	NP_958783.1:p.Arg2536His
NM_201381.3:c.7607G>A	NP_958783.1:p.Arg2536His
NM_201382.3:c.7703G>A	NP_958784.1:p.Arg2568His
NM_201382.4:c.7703G>A	NP_958784.1:p.Arg2568His
NM_201383.2:c.7715G>A	NP_958785.1:p.Arg2572His
NM_201383.3:c.7715G>A	NP_958785.1:p.Arg2572His
NM_201384.2:c.7703G>A	NP_958786.1:p.Arg2568His
ENST00000322810.8:c.8114G>A	ENSP00000323856.4:p.Arg2705His
ENST00000345136.7:c.7703G>A	ENSP00000344848.3:p.Arg2568His
ENST00000354589.7:c.7703G>A	ENSP00000346602.3:p.Arg2568His
ENST00000354958.6:c.7637G>A	ENSP00000347044.2:p.Arg2546His
ENST00000357649.6:c.7715G>A	ENSP00000350277.2:p.Arg2572His
ENST00000398774.6:c.7607G>A	ENSP00000381756.2:p.Arg2536His
ENST00000436759.6:c.7784G>A	ENSP00000388180.2:p.Arg2595His
ENST00000527096.5:c.7772G>A	ENSP00000434583.1:p.Arg2591His
ENST00000527303.1:c.412G>A
ENST00000527303.2:c.4403G>A	ENSP00000433982.2:p.Arg1468His
ENST00000528025.6:c.7835G>A	ENSP00000437303.2:p.Arg2612His
ENST00000685198.1:c.7754G>A	ENSP00000510528.1:p.Arg2585His
ENST00000687971.1:c.7421G>A	ENSP00000510788.1:p.Arg2474His
ENST00000693060.1:c.7634G>A	ENSP00000510329.1:p.Arg2545His
XM_005250976.2:c.8129G>A	XP_005251033.1:p.Arg2710His
XM_005250976.4:c.8129G>A	XP_005251033.1:p.Arg2710His
XM_005250978.2:c.7730G>A	XP_005251035.1:p.Arg2577His
XM_005250978.3:c.7730G>A	XP_005251035.1:p.Arg2577His
XM_005250979.3:c.7718G>A	XP_005251036.1:p.Arg2573His
XM_005250979.4:c.7718G>A	XP_005251036.1:p.Arg2573His
XM_005250980.3:c.7718G>A	XP_005251037.1:p.Arg2573His
XM_005250980.4:c.7718G>A	XP_005251037.1:p.Arg2573His
XM_005250981.2:c.7676G>A	XP_005251038.1:p.Arg2559His
XM_005250981.3:c.7676G>A	XP_005251038.1:p.Arg2559His
XM_005250982.2:c.7652G>A	XP_005251039.1:p.Arg2551His
XM_005250982.4:c.7652G>A	XP_005251039.1:p.Arg2551His
XM_005250983.2:c.7634G>A	XP_005251040.1:p.Arg2545His
XM_005250984.3:c.7622G>A	XP_005251041.1:p.Arg2541His
XM_005250984.5:c.7622G>A	XP_005251041.1:p.Arg2541His
XM_006716588.2:c.7799G>A	XP_006716651.1:p.Arg2600His
XM_006716588.3:c.7799G>A	XP_006716651.1:p.Arg2600His
XM_006716589.2:c.7649G>A	XP_006716652.1:p.Arg2550His
XM_006716590.2:c.7649G>A	XP_006716653.1:p.Arg2550His
XM_006716590.3:c.7649G>A	XP_006716653.1:p.Arg2550His
XM_011517130.1:c.7718G>A	XP_011515432.1:p.Arg2573His
XM_011517130.2:c.7718G>A	XP_011515432.1:p.Arg2573His
XM_011517131.1:c.7634G>A	XP_011515433.1:p.Arg2545His
XM_011517131.2:c.7634G>A	XP_011515433.1:p.Arg2545His
XM_011517132.1:c.4349G>A	XP_011515434.1:p.Arg1450His
XM_011517132.2:c.4349G>A	XP_011515434.1:p.Arg1450His