Canonical Allele Identifier: CA372555718

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143925395G>A , CM000670.2:g.143925395G>A	GRCh38
NC_000008.10:g.144999563G>A , CM000670.1:g.144999563G>A	GRCh37
NC_000008.9:g.145071551G>A	NCBI36
NG_012492.1:g.56351C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.4534C>T MANE Select	NP_958786.1:p.Gln1512Ter
ENST00000345136.8:c.4534C>T MANE Select	ENSP00000344848.3:p.Gln1512Ter
NM_201378.4:c.4492C>T MANE Plus Clinical	NP_958780.1:p.Gln1498Ter
ENST00000356346.7:c.4492C>T MANE Plus Clinical	ENSP00000348702.3:p.Gln1498Ter
NM_000445.4:c.4615C>T	NP_000436.2:p.Gln1539Ter
NM_000445.5:c.4615C>T	NP_000436.2:p.Gln1539Ter
NM_201378.3:c.4492C>T	NP_958780.1:p.Gln1498Ter
NM_201379.2:c.4468C>T	NP_958781.1:p.Gln1490Ter
NM_201379.3:c.4468C>T	NP_958781.1:p.Gln1490Ter
NM_201380.3:c.4945C>T	NP_958782.1:p.Gln1649Ter
NM_201380.4:c.4945C>T	NP_958782.1:p.Gln1649Ter
NM_201381.2:c.4438C>T	NP_958783.1:p.Gln1480Ter
NM_201381.3:c.4438C>T	NP_958783.1:p.Gln1480Ter
NM_201382.3:c.4534C>T	NP_958784.1:p.Gln1512Ter
NM_201382.4:c.4534C>T	NP_958784.1:p.Gln1512Ter
NM_201383.2:c.4546C>T	NP_958785.1:p.Gln1516Ter
NM_201383.3:c.4546C>T	NP_958785.1:p.Gln1516Ter
NM_201384.2:c.4534C>T	NP_958786.1:p.Gln1512Ter
ENST00000322810.8:c.4945C>T	ENSP00000323856.4:p.Gln1649Ter
ENST00000345136.7:c.4534C>T	ENSP00000344848.3:p.Gln1512Ter
ENST00000354589.7:c.4534C>T	ENSP00000346602.3:p.Gln1512Ter
ENST00000354958.6:c.4468C>T	ENSP00000347044.2:p.Gln1490Ter
ENST00000357649.6:c.4546C>T	ENSP00000350277.2:p.Gln1516Ter
ENST00000398774.6:c.4438C>T	ENSP00000381756.2:p.Gln1480Ter
ENST00000436759.6:c.4615C>T	ENSP00000388180.2:p.Gln1539Ter
ENST00000527096.5:c.4603C>T	ENSP00000434583.1:p.Gln1535Ter
ENST00000527303.1:c.134+1389C>T
ENST00000527303.2:c.4125+1389C>T	ENSP00000433982.2:n.4125+1389C>T
ENST00000528025.6:c.4666C>T	ENSP00000437303.2:p.Gln1556Ter
ENST00000685198.1:c.4585C>T	ENSP00000510528.1:p.Gln1529Ter
ENST00000687971.1:c.4252C>T	ENSP00000510788.1:p.Gln1418Ter
ENST00000693060.1:c.4465C>T	ENSP00000510329.1:p.Gln1489Ter
XM_005250976.2:c.4960C>T	XP_005251033.1:p.Gln1654Ter
XM_005250976.4:c.4960C>T	XP_005251033.1:p.Gln1654Ter
XM_005250978.2:c.4561C>T	XP_005251035.1:p.Gln1521Ter
XM_005250978.3:c.4561C>T	XP_005251035.1:p.Gln1521Ter
XM_005250979.3:c.4549C>T	XP_005251036.1:p.Gln1517Ter
XM_005250979.4:c.4549C>T	XP_005251036.1:p.Gln1517Ter
XM_005250980.3:c.4549C>T	XP_005251037.1:p.Gln1517Ter
XM_005250980.4:c.4549C>T	XP_005251037.1:p.Gln1517Ter
XM_005250981.2:c.4507C>T	XP_005251038.1:p.Gln1503Ter
XM_005250981.3:c.4507C>T	XP_005251038.1:p.Gln1503Ter
XM_005250982.2:c.4483C>T	XP_005251039.1:p.Gln1495Ter
XM_005250982.4:c.4483C>T	XP_005251039.1:p.Gln1495Ter
XM_005250983.2:c.4465C>T	XP_005251040.1:p.Gln1489Ter
XM_005250984.3:c.4453C>T	XP_005251041.1:p.Gln1485Ter
XM_005250984.5:c.4453C>T	XP_005251041.1:p.Gln1485Ter
XM_006716588.2:c.4630C>T	XP_006716651.1:p.Gln1544Ter
XM_006716588.3:c.4630C>T	XP_006716651.1:p.Gln1544Ter
XM_006716589.2:c.4480C>T	XP_006716652.1:p.Gln1494Ter
XM_006716590.2:c.4480C>T	XP_006716653.1:p.Gln1494Ter
XM_006716590.3:c.4480C>T	XP_006716653.1:p.Gln1494Ter
XM_011517130.1:c.4549C>T	XP_011515432.1:p.Gln1517Ter
XM_011517130.2:c.4549C>T	XP_011515432.1:p.Gln1517Ter
XM_011517131.1:c.4465C>T	XP_011515433.1:p.Gln1489Ter
XM_011517131.2:c.4465C>T	XP_011515433.1:p.Gln1489Ter
XM_011517132.1:c.4071+1389C>T	XP_011515434.1:n.4071+1389C>T
XM_011517132.2:c.4071+1389C>T	XP_011515434.1:n.4071+1389C>T