Canonical Allele Identifier: CA372581947

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.145007386T>A (hg19) ; chr8:g.143933218T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143933218T>A , CM000670.2:g.143933218T>A	GRCh38
NC_000008.10:g.145007386T>A , CM000670.1:g.145007386T>A	GRCh37
NC_000008.9:g.145079374T>A	NCBI36
NG_012492.1:g.48528A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.1529A>T	ENSP00000437303.2:p.Gln510Leu
ENST00000685198.1:c.1448A>T	ENSP00000510528.1:p.Gln483Leu
ENST00000687971.1:c.1115A>T	ENSP00000510788.1:p.Gln372Leu
ENST00000693060.1:c.1328A>T	ENSP00000510329.1:p.Gln443Leu
ENST00000345136.8:c.1397A>T MANE Select	ENSP00000344848.3:p.Gln466Leu
ENST00000527303.2:c.1478A>T	ENSP00000433982.2:p.Gln493Leu
ENST00000322810.8:c.1808A>T	ENSP00000323856.4:p.Gln603Leu
ENST00000345136.7:c.1397A>T	ENSP00000344848.3:p.Gln466Leu
ENST00000354589.7:c.1397A>T	ENSP00000346602.3:p.Gln466Leu
ENST00000354958.6:c.1331A>T	ENSP00000347044.2:p.Gln444Leu
ENST00000356346.7:c.1355A>T MANE Plus Clinical	ENSP00000348702.3:p.Gln452Leu
ENST00000357649.6:c.1409A>T	ENSP00000350277.2:p.Gln470Leu
ENST00000398774.6:c.1301A>T	ENSP00000381756.2:p.Gln434Leu
ENST00000436759.6:c.1478A>T	ENSP00000388180.2:p.Gln493Leu
ENST00000527096.5:c.1466A>T	ENSP00000434583.1:p.Gln489Leu
ENST00000528025.5:c.1529A>T	ENSP00000437303.1:p.Gln510Leu
NM_000445.4:c.1478A>T	NP_000436.2:p.Gln493Leu
NM_201378.3:c.1355A>T	NP_958780.1:p.Gln452Leu
NM_201379.2:c.1331A>T	NP_958781.1:p.Gln444Leu
NM_201380.3:c.1808A>T	NP_958782.1:p.Gln603Leu
NM_201381.2:c.1301A>T	NP_958783.1:p.Gln434Leu
NM_201382.3:c.1397A>T	NP_958784.1:p.Gln466Leu
NM_201383.2:c.1409A>T	NP_958785.1:p.Gln470Leu
NM_201384.2:c.1397A>T	NP_958786.1:p.Gln466Leu
XM_005250976.2:c.1823A>T	XP_005251033.1:p.Gln608Leu
XM_005250978.2:c.1424A>T	XP_005251035.1:p.Gln475Leu
XM_005250979.3:c.1412A>T	XP_005251036.1:p.Gln471Leu
XM_005250980.3:c.1412A>T	XP_005251037.1:p.Gln471Leu
XM_005250981.2:c.1370A>T	XP_005251038.1:p.Gln457Leu
XM_005250982.2:c.1346A>T	XP_005251039.1:p.Gln449Leu
XM_005250983.2:c.1328A>T	XP_005251040.1:p.Gln443Leu
XM_005250984.3:c.1316A>T	XP_005251041.1:p.Gln439Leu
XM_006716588.2:c.1493A>T	XP_006716651.1:p.Gln498Leu
XM_006716589.2:c.1343A>T	XP_006716652.1:p.Gln448Leu
XM_006716590.2:c.1343A>T	XP_006716653.1:p.Gln448Leu
XM_011517130.1:c.1412A>T	XP_011515432.1:p.Gln471Leu
XM_011517131.1:c.1328A>T	XP_011515433.1:p.Gln443Leu
XM_011517132.1:c.1424A>T	XP_011515434.1:p.Gln475Leu
XM_005250976.4:c.1823A>T	XP_005251033.1:p.Gln608Leu
XM_005250978.3:c.1424A>T	XP_005251035.1:p.Gln475Leu
XM_005250979.4:c.1412A>T	XP_005251036.1:p.Gln471Leu
XM_005250980.4:c.1412A>T	XP_005251037.1:p.Gln471Leu
XM_005250981.3:c.1370A>T	XP_005251038.1:p.Gln457Leu
XM_005250982.4:c.1346A>T	XP_005251039.1:p.Gln449Leu
XM_005250984.5:c.1316A>T	XP_005251041.1:p.Gln439Leu
XM_006716588.3:c.1493A>T	XP_006716651.1:p.Gln498Leu
XM_006716590.3:c.1343A>T	XP_006716653.1:p.Gln448Leu
XM_011517130.2:c.1412A>T	XP_011515432.1:p.Gln471Leu
XM_011517131.2:c.1328A>T	XP_011515433.1:p.Gln443Leu
XM_011517132.2:c.1424A>T	XP_011515434.1:p.Gln475Leu
NM_000445.5:c.1478A>T	NP_000436.2:p.Gln493Leu
NM_201378.4:c.1355A>T MANE Plus Clinical	NP_958780.1:p.Gln452Leu
NM_201379.3:c.1331A>T	NP_958781.1:p.Gln444Leu
NM_201380.4:c.1808A>T	NP_958782.1:p.Gln603Leu
NM_201381.3:c.1301A>T	NP_958783.1:p.Gln434Leu
NM_201382.4:c.1397A>T	NP_958784.1:p.Gln466Leu
NM_201383.3:c.1409A>T	NP_958785.1:p.Gln470Leu
NM_201384.3:c.1397A>T MANE Select	NP_958786.1:p.Gln466Leu