Canonical Allele Identifier: CA372581956

Gene: PLEC

Linked Data

• dbSNP Id: rs1827931173
• gnomAD v4: 8-143933219-G-T
• MyVariant Identifiers: chr8:g.145007387G>T (hg19) ; chr8:g.143933219G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143933219G>T , CM000670.2:g.143933219G>T	GRCh38
NC_000008.10:g.145007387G>T , CM000670.1:g.145007387G>T	GRCh37
NC_000008.9:g.145079375G>T	NCBI36
NG_012492.1:g.48527C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.1528C>A	ENSP00000437303.2:p.Gln510Lys
ENST00000685198.1:c.1447C>A	ENSP00000510528.1:p.Gln483Lys
ENST00000687971.1:c.1114C>A	ENSP00000510788.1:p.Gln372Lys
ENST00000693060.1:c.1327C>A	ENSP00000510329.1:p.Gln443Lys
ENST00000345136.8:c.1396C>A MANE Select	ENSP00000344848.3:p.Gln466Lys
ENST00000527303.2:c.1477C>A	ENSP00000433982.2:p.Gln493Lys
ENST00000322810.8:c.1807C>A	ENSP00000323856.4:p.Gln603Lys
ENST00000345136.7:c.1396C>A	ENSP00000344848.3:p.Gln466Lys
ENST00000354589.7:c.1396C>A	ENSP00000346602.3:p.Gln466Lys
ENST00000354958.6:c.1330C>A	ENSP00000347044.2:p.Gln444Lys
ENST00000356346.7:c.1354C>A MANE Plus Clinical	ENSP00000348702.3:p.Gln452Lys
ENST00000357649.6:c.1408C>A	ENSP00000350277.2:p.Gln470Lys
ENST00000398774.6:c.1300C>A	ENSP00000381756.2:p.Gln434Lys
ENST00000436759.6:c.1477C>A	ENSP00000388180.2:p.Gln493Lys
ENST00000527096.5:c.1465C>A	ENSP00000434583.1:p.Gln489Lys
ENST00000528025.5:c.1528C>A	ENSP00000437303.1:p.Gln510Lys
NM_000445.4:c.1477C>A	NP_000436.2:p.Gln493Lys
NM_201378.3:c.1354C>A	NP_958780.1:p.Gln452Lys
NM_201379.2:c.1330C>A	NP_958781.1:p.Gln444Lys
NM_201380.3:c.1807C>A	NP_958782.1:p.Gln603Lys
NM_201381.2:c.1300C>A	NP_958783.1:p.Gln434Lys
NM_201382.3:c.1396C>A	NP_958784.1:p.Gln466Lys
NM_201383.2:c.1408C>A	NP_958785.1:p.Gln470Lys
NM_201384.2:c.1396C>A	NP_958786.1:p.Gln466Lys
XM_005250976.2:c.1822C>A	XP_005251033.1:p.Gln608Lys
XM_005250978.2:c.1423C>A	XP_005251035.1:p.Gln475Lys
XM_005250979.3:c.1411C>A	XP_005251036.1:p.Gln471Lys
XM_005250980.3:c.1411C>A	XP_005251037.1:p.Gln471Lys
XM_005250981.2:c.1369C>A	XP_005251038.1:p.Gln457Lys
XM_005250982.2:c.1345C>A	XP_005251039.1:p.Gln449Lys
XM_005250983.2:c.1327C>A	XP_005251040.1:p.Gln443Lys
XM_005250984.3:c.1315C>A	XP_005251041.1:p.Gln439Lys
XM_006716588.2:c.1492C>A	XP_006716651.1:p.Gln498Lys
XM_006716589.2:c.1342C>A	XP_006716652.1:p.Gln448Lys
XM_006716590.2:c.1342C>A	XP_006716653.1:p.Gln448Lys
XM_011517130.1:c.1411C>A	XP_011515432.1:p.Gln471Lys
XM_011517131.1:c.1327C>A	XP_011515433.1:p.Gln443Lys
XM_011517132.1:c.1423C>A	XP_011515434.1:p.Gln475Lys
XM_005250976.4:c.1822C>A	XP_005251033.1:p.Gln608Lys
XM_005250978.3:c.1423C>A	XP_005251035.1:p.Gln475Lys
XM_005250979.4:c.1411C>A	XP_005251036.1:p.Gln471Lys
XM_005250980.4:c.1411C>A	XP_005251037.1:p.Gln471Lys
XM_005250981.3:c.1369C>A	XP_005251038.1:p.Gln457Lys
XM_005250982.4:c.1345C>A	XP_005251039.1:p.Gln449Lys
XM_005250984.5:c.1315C>A	XP_005251041.1:p.Gln439Lys
XM_006716588.3:c.1492C>A	XP_006716651.1:p.Gln498Lys
XM_006716590.3:c.1342C>A	XP_006716653.1:p.Gln448Lys
XM_011517130.2:c.1411C>A	XP_011515432.1:p.Gln471Lys
XM_011517131.2:c.1327C>A	XP_011515433.1:p.Gln443Lys
XM_011517132.2:c.1423C>A	XP_011515434.1:p.Gln475Lys
NM_000445.5:c.1477C>A	NP_000436.2:p.Gln493Lys
NM_201378.4:c.1354C>A MANE Plus Clinical	NP_958780.1:p.Gln452Lys
NM_201379.3:c.1330C>A	NP_958781.1:p.Gln444Lys
NM_201380.4:c.1807C>A	NP_958782.1:p.Gln603Lys
NM_201381.3:c.1300C>A	NP_958783.1:p.Gln434Lys
NM_201382.4:c.1396C>A	NP_958784.1:p.Gln466Lys
NM_201383.3:c.1408C>A	NP_958785.1:p.Gln470Lys
NM_201384.3:c.1396C>A MANE Select	NP_958786.1:p.Gln466Lys