Canonical Allele Identifier: CA4925470

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143921869C>T , CM000670.2:g.143921869C>T	GRCh38
NC_000008.10:g.144996037C>T , CM000670.1:g.144996037C>T	GRCh37
NC_000008.9:g.145068025C>T	NCBI36
NG_012492.1:g.59877G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.7952G>A MANE Select	NP_958786.1:p.Arg2651Gln
ENST00000345136.8:c.7952G>A MANE Select	ENSP00000344848.3:p.Arg2651Gln
NM_201378.4:c.7910G>A MANE Plus Clinical	NP_958780.1:p.Arg2637Gln
ENST00000356346.7:c.7910G>A MANE Plus Clinical	ENSP00000348702.3:p.Arg2637Gln
NM_000445.4:c.8033G>A	NP_000436.2:p.Arg2678Gln
NM_000445.5:c.8033G>A	NP_000436.2:p.Arg2678Gln
NM_201378.3:c.7910G>A	NP_958780.1:p.Arg2637Gln
NM_201379.2:c.7886G>A	NP_958781.1:p.Arg2629Gln
NM_201379.3:c.7886G>A	NP_958781.1:p.Arg2629Gln
NM_201380.3:c.8363G>A	NP_958782.1:p.Arg2788Gln
NM_201380.4:c.8363G>A	NP_958782.1:p.Arg2788Gln
NM_201381.2:c.7856G>A	NP_958783.1:p.Arg2619Gln
NM_201381.3:c.7856G>A	NP_958783.1:p.Arg2619Gln
NM_201382.3:c.7952G>A	NP_958784.1:p.Arg2651Gln
NM_201382.4:c.7952G>A	NP_958784.1:p.Arg2651Gln
NM_201383.2:c.7964G>A	NP_958785.1:p.Arg2655Gln
NM_201383.3:c.7964G>A	NP_958785.1:p.Arg2655Gln
NM_201384.2:c.7952G>A	NP_958786.1:p.Arg2651Gln
ENST00000322810.8:c.8363G>A	ENSP00000323856.4:p.Arg2788Gln
ENST00000345136.7:c.7952G>A	ENSP00000344848.3:p.Arg2651Gln
ENST00000354589.7:c.7952G>A	ENSP00000346602.3:p.Arg2651Gln
ENST00000354958.6:c.7886G>A	ENSP00000347044.2:p.Arg2629Gln
ENST00000357649.6:c.7964G>A	ENSP00000350277.2:p.Arg2655Gln
ENST00000398774.6:c.7856G>A	ENSP00000381756.2:p.Arg2619Gln
ENST00000436759.6:c.8033G>A	ENSP00000388180.2:p.Arg2678Gln
ENST00000527096.5:c.8021G>A	ENSP00000434583.1:p.Arg2674Gln
ENST00000527303.2:c.4652G>A	ENSP00000433982.2:p.Arg1551Gln
ENST00000528025.6:c.8084G>A	ENSP00000437303.2:p.Arg2695Gln
ENST00000685198.1:c.8003G>A	ENSP00000510528.1:p.Arg2668Gln
ENST00000687971.1:c.7670G>A	ENSP00000510788.1:p.Arg2557Gln
ENST00000693060.1:c.7883G>A	ENSP00000510329.1:p.Arg2628Gln
XM_005250976.2:c.8378G>A	XP_005251033.1:p.Arg2793Gln
XM_005250976.4:c.8378G>A	XP_005251033.1:p.Arg2793Gln
XM_005250978.2:c.7979G>A	XP_005251035.1:p.Arg2660Gln
XM_005250978.3:c.7979G>A	XP_005251035.1:p.Arg2660Gln
XM_005250979.3:c.7967G>A	XP_005251036.1:p.Arg2656Gln
XM_005250979.4:c.7967G>A	XP_005251036.1:p.Arg2656Gln
XM_005250980.3:c.7967G>A	XP_005251037.1:p.Arg2656Gln
XM_005250980.4:c.7967G>A	XP_005251037.1:p.Arg2656Gln
XM_005250981.2:c.7925G>A	XP_005251038.1:p.Arg2642Gln
XM_005250981.3:c.7925G>A	XP_005251038.1:p.Arg2642Gln
XM_005250982.2:c.7901G>A	XP_005251039.1:p.Arg2634Gln
XM_005250982.4:c.7901G>A	XP_005251039.1:p.Arg2634Gln
XM_005250983.2:c.7883G>A	XP_005251040.1:p.Arg2628Gln
XM_005250984.3:c.7871G>A	XP_005251041.1:p.Arg2624Gln
XM_005250984.5:c.7871G>A	XP_005251041.1:p.Arg2624Gln
XM_006716588.2:c.8048G>A	XP_006716651.1:p.Arg2683Gln
XM_006716588.3:c.8048G>A	XP_006716651.1:p.Arg2683Gln
XM_006716589.2:c.7898G>A	XP_006716652.1:p.Arg2633Gln
XM_006716590.2:c.7898G>A	XP_006716653.1:p.Arg2633Gln
XM_006716590.3:c.7898G>A	XP_006716653.1:p.Arg2633Gln
XM_011517130.1:c.7967G>A	XP_011515432.1:p.Arg2656Gln
XM_011517130.2:c.7967G>A	XP_011515432.1:p.Arg2656Gln
XM_011517131.1:c.7883G>A	XP_011515433.1:p.Arg2628Gln
XM_011517131.2:c.7883G>A	XP_011515433.1:p.Arg2628Gln
XM_011517132.1:c.4598G>A	XP_011515434.1:p.Arg1533Gln
XM_011517132.2:c.4598G>A	XP_011515434.1:p.Arg1533Gln