Canonical Allele Identifier: CA463536744

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.145007382G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143933214G>T , CM000670.2:g.143933214G>T	GRCh38
NC_000008.10:g.145007382G>T , CM000670.1:g.145007382G>T	GRCh37
NC_000008.9:g.145079370G>T	NCBI36
NG_012492.1:g.48532C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.1533C>A	ENSP00000437303.2:p.Gly511=
ENST00000685198.1:c.1452C>A	ENSP00000510528.1:p.Gly484=
ENST00000687971.1:c.1119C>A	ENSP00000510788.1:p.Gly373=
ENST00000693060.1:c.1332C>A	ENSP00000510329.1:p.Gly444=
ENST00000345136.8:c.1401C>A MANE Select	ENSP00000344848.3:p.Gly467=
ENST00000527303.2:c.1482C>A	ENSP00000433982.2:p.Gly494=
ENST00000322810.8:c.1812C>A	ENSP00000323856.4:p.Gly604=
ENST00000345136.7:c.1401C>A	ENSP00000344848.3:p.Gly467=
ENST00000354589.7:c.1401C>A	ENSP00000346602.3:p.Gly467=
ENST00000354958.6:c.1335C>A	ENSP00000347044.2:p.Gly445=
ENST00000356346.7:c.1359C>A MANE Plus Clinical	ENSP00000348702.3:p.Gly453=
ENST00000357649.6:c.1413C>A	ENSP00000350277.2:p.Gly471=
ENST00000398774.6:c.1305C>A	ENSP00000381756.2:p.Gly435=
ENST00000436759.6:c.1482C>A	ENSP00000388180.2:p.Gly494=
ENST00000527096.5:c.1470C>A	ENSP00000434583.1:p.Gly490=
ENST00000528025.5:c.1533C>A	ENSP00000437303.1:p.Gly511=
NM_000445.4:c.1482C>A	NP_000436.2:p.Gly494=
NM_201378.3:c.1359C>A	NP_958780.1:p.Gly453=
NM_201379.2:c.1335C>A	NP_958781.1:p.Gly445=
NM_201380.3:c.1812C>A	NP_958782.1:p.Gly604=
NM_201381.2:c.1305C>A	NP_958783.1:p.Gly435=
NM_201382.3:c.1401C>A	NP_958784.1:p.Gly467=
NM_201383.2:c.1413C>A	NP_958785.1:p.Gly471=
NM_201384.2:c.1401C>A	NP_958786.1:p.Gly467=
XM_005250976.2:c.1827C>A	XP_005251033.1:p.Gly609=
XM_005250978.2:c.1428C>A	XP_005251035.1:p.Gly476=
XM_005250979.3:c.1416C>A	XP_005251036.1:p.Gly472=
XM_005250980.3:c.1416C>A	XP_005251037.1:p.Gly472=
XM_005250981.2:c.1374C>A	XP_005251038.1:p.Gly458=
XM_005250982.2:c.1350C>A	XP_005251039.1:p.Gly450=
XM_005250983.2:c.1332C>A	XP_005251040.1:p.Gly444=
XM_005250984.3:c.1320C>A	XP_005251041.1:p.Gly440=
XM_006716588.2:c.1497C>A	XP_006716651.1:p.Gly499=
XM_006716589.2:c.1347C>A	XP_006716652.1:p.Gly449=
XM_006716590.2:c.1347C>A	XP_006716653.1:p.Gly449=
XM_011517130.1:c.1416C>A	XP_011515432.1:p.Gly472=
XM_011517131.1:c.1332C>A	XP_011515433.1:p.Gly444=
XM_011517132.1:c.1428C>A	XP_011515434.1:p.Gly476=
XM_005250976.4:c.1827C>A	XP_005251033.1:p.Gly609=
XM_005250978.3:c.1428C>A	XP_005251035.1:p.Gly476=
XM_005250979.4:c.1416C>A	XP_005251036.1:p.Gly472=
XM_005250980.4:c.1416C>A	XP_005251037.1:p.Gly472=
XM_005250981.3:c.1374C>A	XP_005251038.1:p.Gly458=
XM_005250982.4:c.1350C>A	XP_005251039.1:p.Gly450=
XM_005250984.5:c.1320C>A	XP_005251041.1:p.Gly440=
XM_006716588.3:c.1497C>A	XP_006716651.1:p.Gly499=
XM_006716590.3:c.1347C>A	XP_006716653.1:p.Gly449=
XM_011517130.2:c.1416C>A	XP_011515432.1:p.Gly472=
XM_011517131.2:c.1332C>A	XP_011515433.1:p.Gly444=
XM_011517132.2:c.1428C>A	XP_011515434.1:p.Gly476=
NM_000445.5:c.1482C>A	NP_000436.2:p.Gly494=
NM_201378.4:c.1359C>A MANE Plus Clinical	NP_958780.1:p.Gly453=
NM_201379.3:c.1335C>A	NP_958781.1:p.Gly445=
NM_201380.4:c.1812C>A	NP_958782.1:p.Gly604=
NM_201381.3:c.1305C>A	NP_958783.1:p.Gly435=
NM_201382.4:c.1401C>A	NP_958784.1:p.Gly467=
NM_201383.3:c.1413C>A	NP_958785.1:p.Gly471=
NM_201384.3:c.1401C>A MANE Select	NP_958786.1:p.Gly467=