Canonical Allele Identifier: CA4926336

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143924402C>T , CM000670.2:g.143924402C>T	GRCh38
NC_000008.10:g.144998570C>T , CM000670.1:g.144998570C>T	GRCh37
NC_000008.9:g.145070558C>T	NCBI36
NG_012492.1:g.57344G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.5527G>A MANE Select	NP_958786.1:p.Gly1843Ser
ENST00000345136.8:c.5527G>A MANE Select	ENSP00000344848.3:p.Gly1843Ser
NM_201378.4:c.5485G>A MANE Plus Clinical	NP_958780.1:p.Gly1829Ser
ENST00000356346.7:c.5485G>A MANE Plus Clinical	ENSP00000348702.3:p.Gly1829Ser
NM_000445.4:c.5608G>A	NP_000436.2:p.Gly1870Ser
NM_000445.5:c.5608G>A	NP_000436.2:p.Gly1870Ser
NM_201378.3:c.5485G>A	NP_958780.1:p.Gly1829Ser
NM_201379.2:c.5461G>A	NP_958781.1:p.Gly1821Ser
NM_201379.3:c.5461G>A	NP_958781.1:p.Gly1821Ser
NM_201380.3:c.5938G>A	NP_958782.1:p.Gly1980Ser
NM_201380.4:c.5938G>A	NP_958782.1:p.Gly1980Ser
NM_201381.2:c.5431G>A	NP_958783.1:p.Gly1811Ser
NM_201381.3:c.5431G>A	NP_958783.1:p.Gly1811Ser
NM_201382.3:c.5527G>A	NP_958784.1:p.Gly1843Ser
NM_201382.4:c.5527G>A	NP_958784.1:p.Gly1843Ser
NM_201383.2:c.5539G>A	NP_958785.1:p.Gly1847Ser
NM_201383.3:c.5539G>A	NP_958785.1:p.Gly1847Ser
NM_201384.2:c.5527G>A	NP_958786.1:p.Gly1843Ser
ENST00000322810.8:c.5938G>A	ENSP00000323856.4:p.Gly1980Ser
ENST00000345136.7:c.5527G>A	ENSP00000344848.3:p.Gly1843Ser
ENST00000354589.7:c.5527G>A	ENSP00000346602.3:p.Gly1843Ser
ENST00000354958.6:c.5461G>A	ENSP00000347044.2:p.Gly1821Ser
ENST00000357649.6:c.5539G>A	ENSP00000350277.2:p.Gly1847Ser
ENST00000398774.6:c.5431G>A	ENSP00000381756.2:p.Gly1811Ser
ENST00000436759.6:c.5608G>A	ENSP00000388180.2:p.Gly1870Ser
ENST00000527096.5:c.5596G>A	ENSP00000434583.1:p.Gly1866Ser
ENST00000527303.1:c.135-2007G>A
ENST00000527303.2:c.4126-2007G>A	ENSP00000433982.2:n.4126-2007G>A
ENST00000528025.6:c.5659G>A	ENSP00000437303.2:p.Gly1887Ser
ENST00000685198.1:c.5578G>A	ENSP00000510528.1:p.Gly1860Ser
ENST00000687971.1:c.5245G>A	ENSP00000510788.1:p.Gly1749Ser
ENST00000693060.1:c.5458G>A	ENSP00000510329.1:p.Gly1820Ser
XM_005250976.2:c.5953G>A	XP_005251033.1:p.Gly1985Ser
XM_005250976.4:c.5953G>A	XP_005251033.1:p.Gly1985Ser
XM_005250978.2:c.5554G>A	XP_005251035.1:p.Gly1852Ser
XM_005250978.3:c.5554G>A	XP_005251035.1:p.Gly1852Ser
XM_005250979.3:c.5542G>A	XP_005251036.1:p.Gly1848Ser
XM_005250979.4:c.5542G>A	XP_005251036.1:p.Gly1848Ser
XM_005250980.3:c.5542G>A	XP_005251037.1:p.Gly1848Ser
XM_005250980.4:c.5542G>A	XP_005251037.1:p.Gly1848Ser
XM_005250981.2:c.5500G>A	XP_005251038.1:p.Gly1834Ser
XM_005250981.3:c.5500G>A	XP_005251038.1:p.Gly1834Ser
XM_005250982.2:c.5476G>A	XP_005251039.1:p.Gly1826Ser
XM_005250982.4:c.5476G>A	XP_005251039.1:p.Gly1826Ser
XM_005250983.2:c.5458G>A	XP_005251040.1:p.Gly1820Ser
XM_005250984.3:c.5446G>A	XP_005251041.1:p.Gly1816Ser
XM_005250984.5:c.5446G>A	XP_005251041.1:p.Gly1816Ser
XM_006716588.2:c.5623G>A	XP_006716651.1:p.Gly1875Ser
XM_006716588.3:c.5623G>A	XP_006716651.1:p.Gly1875Ser
XM_006716589.2:c.5473G>A	XP_006716652.1:p.Gly1825Ser
XM_006716590.2:c.5473G>A	XP_006716653.1:p.Gly1825Ser
XM_006716590.3:c.5473G>A	XP_006716653.1:p.Gly1825Ser
XM_011517130.1:c.5542G>A	XP_011515432.1:p.Gly1848Ser
XM_011517130.2:c.5542G>A	XP_011515432.1:p.Gly1848Ser
XM_011517131.1:c.5458G>A	XP_011515433.1:p.Gly1820Ser
XM_011517131.2:c.5458G>A	XP_011515433.1:p.Gly1820Ser
XM_011517132.1:c.4072-2007G>A	XP_011515434.1:n.4072-2007G>A
XM_011517132.2:c.4072-2007G>A	XP_011515434.1:n.4072-2007G>A