Canonical Allele Identifier: CA372526078

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143922593C>A , CM000670.2:g.143922593C>A	GRCh38
NC_000008.10:g.144996761C>A , CM000670.1:g.144996761C>A	GRCh37
NC_000008.9:g.145068749C>A	NCBI36
NG_012492.1:g.59153G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.7336G>T MANE Select	NP_958786.1:p.Glu2446Ter
ENST00000345136.8:c.7336G>T MANE Select	ENSP00000344848.3:p.Glu2446Ter
NM_201378.4:c.7294G>T MANE Plus Clinical	NP_958780.1:p.Glu2432Ter
ENST00000356346.7:c.7294G>T MANE Plus Clinical	ENSP00000348702.3:p.Glu2432Ter
NM_000445.4:c.7417G>T	NP_000436.2:p.Glu2473Ter
NM_000445.5:c.7417G>T	NP_000436.2:p.Glu2473Ter
NM_201378.3:c.7294G>T	NP_958780.1:p.Glu2432Ter
NM_201379.2:c.7270G>T	NP_958781.1:p.Glu2424Ter
NM_201379.3:c.7270G>T	NP_958781.1:p.Glu2424Ter
NM_201380.3:c.7747G>T	NP_958782.1:p.Glu2583Ter
NM_201380.4:c.7747G>T	NP_958782.1:p.Glu2583Ter
NM_201381.2:c.7240G>T	NP_958783.1:p.Glu2414Ter
NM_201381.3:c.7240G>T	NP_958783.1:p.Glu2414Ter
NM_201382.3:c.7336G>T	NP_958784.1:p.Glu2446Ter
NM_201382.4:c.7336G>T	NP_958784.1:p.Glu2446Ter
NM_201383.2:c.7348G>T	NP_958785.1:p.Glu2450Ter
NM_201383.3:c.7348G>T	NP_958785.1:p.Glu2450Ter
NM_201384.2:c.7336G>T	NP_958786.1:p.Glu2446Ter
ENST00000322810.8:c.7747G>T	ENSP00000323856.4:p.Glu2583Ter
ENST00000345136.7:c.7336G>T	ENSP00000344848.3:p.Glu2446Ter
ENST00000354589.7:c.7336G>T	ENSP00000346602.3:p.Glu2446Ter
ENST00000354958.6:c.7270G>T	ENSP00000347044.2:p.Glu2424Ter
ENST00000357649.6:c.7348G>T	ENSP00000350277.2:p.Glu2450Ter
ENST00000398774.6:c.7240G>T	ENSP00000381756.2:p.Glu2414Ter
ENST00000436759.6:c.7417G>T	ENSP00000388180.2:p.Glu2473Ter
ENST00000527096.5:c.7405G>T	ENSP00000434583.1:p.Glu2469Ter
ENST00000527303.1:c.135-198G>T
ENST00000527303.2:c.4126-198G>T	ENSP00000433982.2:n.4126-198G>T
ENST00000528025.6:c.7468G>T	ENSP00000437303.2:p.Glu2490Ter
ENST00000685198.1:c.7387G>T	ENSP00000510528.1:p.Glu2463Ter
ENST00000687971.1:c.7054G>T	ENSP00000510788.1:p.Glu2352Ter
ENST00000693060.1:c.7267G>T	ENSP00000510329.1:p.Glu2423Ter
XM_005250976.2:c.7762G>T	XP_005251033.1:p.Glu2588Ter
XM_005250976.4:c.7762G>T	XP_005251033.1:p.Glu2588Ter
XM_005250978.2:c.7363G>T	XP_005251035.1:p.Glu2455Ter
XM_005250978.3:c.7363G>T	XP_005251035.1:p.Glu2455Ter
XM_005250979.3:c.7351G>T	XP_005251036.1:p.Glu2451Ter
XM_005250979.4:c.7351G>T	XP_005251036.1:p.Glu2451Ter
XM_005250980.3:c.7351G>T	XP_005251037.1:p.Glu2451Ter
XM_005250980.4:c.7351G>T	XP_005251037.1:p.Glu2451Ter
XM_005250981.2:c.7309G>T	XP_005251038.1:p.Glu2437Ter
XM_005250981.3:c.7309G>T	XP_005251038.1:p.Glu2437Ter
XM_005250982.2:c.7285G>T	XP_005251039.1:p.Glu2429Ter
XM_005250982.4:c.7285G>T	XP_005251039.1:p.Glu2429Ter
XM_005250983.2:c.7267G>T	XP_005251040.1:p.Glu2423Ter
XM_005250984.3:c.7255G>T	XP_005251041.1:p.Glu2419Ter
XM_005250984.5:c.7255G>T	XP_005251041.1:p.Glu2419Ter
XM_006716588.2:c.7432G>T	XP_006716651.1:p.Glu2478Ter
XM_006716588.3:c.7432G>T	XP_006716651.1:p.Glu2478Ter
XM_006716589.2:c.7282G>T	XP_006716652.1:p.Glu2428Ter
XM_006716590.2:c.7282G>T	XP_006716653.1:p.Glu2428Ter
XM_006716590.3:c.7282G>T	XP_006716653.1:p.Glu2428Ter
XM_011517130.1:c.7351G>T	XP_011515432.1:p.Glu2451Ter
XM_011517130.2:c.7351G>T	XP_011515432.1:p.Glu2451Ter
XM_011517131.1:c.7267G>T	XP_011515433.1:p.Glu2423Ter
XM_011517131.2:c.7267G>T	XP_011515433.1:p.Glu2423Ter
XM_011517132.1:c.4072-198G>T	XP_011515434.1:n.4072-198G>T
XM_011517132.2:c.4072-198G>T	XP_011515434.1:n.4072-198G>T