Canonical Allele Identifier: CA372552942

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143925134C>G , CM000670.2:g.143925134C>G	GRCh38
NC_000008.10:g.144999302C>G , CM000670.1:g.144999302C>G	GRCh37
NC_000008.9:g.145071290C>G	NCBI36
NG_012492.1:g.56612G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.4795G>C MANE Select	NP_958786.1:p.Glu1599Gln
ENST00000345136.8:c.4795G>C MANE Select	ENSP00000344848.3:p.Glu1599Gln
NM_201378.4:c.4753G>C MANE Plus Clinical	NP_958780.1:p.Glu1585Gln
ENST00000356346.7:c.4753G>C MANE Plus Clinical	ENSP00000348702.3:p.Glu1585Gln
NM_000445.4:c.4876G>C	NP_000436.2:p.Glu1626Gln
NM_000445.5:c.4876G>C	NP_000436.2:p.Glu1626Gln
NM_201378.3:c.4753G>C	NP_958780.1:p.Glu1585Gln
NM_201379.2:c.4729G>C	NP_958781.1:p.Glu1577Gln
NM_201379.3:c.4729G>C	NP_958781.1:p.Glu1577Gln
NM_201380.3:c.5206G>C	NP_958782.1:p.Glu1736Gln
NM_201380.4:c.5206G>C	NP_958782.1:p.Glu1736Gln
NM_201381.2:c.4699G>C	NP_958783.1:p.Glu1567Gln
NM_201381.3:c.4699G>C	NP_958783.1:p.Glu1567Gln
NM_201382.3:c.4795G>C	NP_958784.1:p.Glu1599Gln
NM_201382.4:c.4795G>C	NP_958784.1:p.Glu1599Gln
NM_201383.2:c.4807G>C	NP_958785.1:p.Glu1603Gln
NM_201383.3:c.4807G>C	NP_958785.1:p.Glu1603Gln
NM_201384.2:c.4795G>C	NP_958786.1:p.Glu1599Gln
ENST00000322810.8:c.5206G>C	ENSP00000323856.4:p.Glu1736Gln
ENST00000345136.7:c.4795G>C	ENSP00000344848.3:p.Glu1599Gln
ENST00000354589.7:c.4795G>C	ENSP00000346602.3:p.Glu1599Gln
ENST00000354958.6:c.4729G>C	ENSP00000347044.2:p.Glu1577Gln
ENST00000357649.6:c.4807G>C	ENSP00000350277.2:p.Glu1603Gln
ENST00000398774.6:c.4699G>C	ENSP00000381756.2:p.Glu1567Gln
ENST00000436759.6:c.4876G>C	ENSP00000388180.2:p.Glu1626Gln
ENST00000527096.5:c.4864G>C	ENSP00000434583.1:p.Glu1622Gln
ENST00000527303.1:c.134+1650G>C
ENST00000527303.2:c.4125+1650G>C	ENSP00000433982.2:n.4125+1650G>C
ENST00000528025.6:c.4927G>C	ENSP00000437303.2:p.Glu1643Gln
ENST00000685198.1:c.4846G>C	ENSP00000510528.1:p.Glu1616Gln
ENST00000687971.1:c.4513G>C	ENSP00000510788.1:p.Glu1505Gln
ENST00000693060.1:c.4726G>C	ENSP00000510329.1:p.Glu1576Gln
XM_005250976.2:c.5221G>C	XP_005251033.1:p.Glu1741Gln
XM_005250976.4:c.5221G>C	XP_005251033.1:p.Glu1741Gln
XM_005250978.2:c.4822G>C	XP_005251035.1:p.Glu1608Gln
XM_005250978.3:c.4822G>C	XP_005251035.1:p.Glu1608Gln
XM_005250979.3:c.4810G>C	XP_005251036.1:p.Glu1604Gln
XM_005250979.4:c.4810G>C	XP_005251036.1:p.Glu1604Gln
XM_005250980.3:c.4810G>C	XP_005251037.1:p.Glu1604Gln
XM_005250980.4:c.4810G>C	XP_005251037.1:p.Glu1604Gln
XM_005250981.2:c.4768G>C	XP_005251038.1:p.Glu1590Gln
XM_005250981.3:c.4768G>C	XP_005251038.1:p.Glu1590Gln
XM_005250982.2:c.4744G>C	XP_005251039.1:p.Glu1582Gln
XM_005250982.4:c.4744G>C	XP_005251039.1:p.Glu1582Gln
XM_005250983.2:c.4726G>C	XP_005251040.1:p.Glu1576Gln
XM_005250984.3:c.4714G>C	XP_005251041.1:p.Glu1572Gln
XM_005250984.5:c.4714G>C	XP_005251041.1:p.Glu1572Gln
XM_006716588.2:c.4891G>C	XP_006716651.1:p.Glu1631Gln
XM_006716588.3:c.4891G>C	XP_006716651.1:p.Glu1631Gln
XM_006716589.2:c.4741G>C	XP_006716652.1:p.Glu1581Gln
XM_006716590.2:c.4741G>C	XP_006716653.1:p.Glu1581Gln
XM_006716590.3:c.4741G>C	XP_006716653.1:p.Glu1581Gln
XM_011517130.1:c.4810G>C	XP_011515432.1:p.Glu1604Gln
XM_011517130.2:c.4810G>C	XP_011515432.1:p.Glu1604Gln
XM_011517131.1:c.4726G>C	XP_011515433.1:p.Glu1576Gln
XM_011517131.2:c.4726G>C	XP_011515433.1:p.Glu1576Gln
XM_011517132.1:c.4071+1650G>C	XP_011515434.1:n.4071+1650G>C
XM_011517132.2:c.4071+1650G>C	XP_011515434.1:n.4071+1650G>C