Canonical Allele Identifier: CA372581745

Gene: PLEC

Linked Data

• gnomAD v4: 8-143933111-C-G
• MyVariant Identifiers: chr8:g.145007279C>G (hg19) ; chr8:g.143933111C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143933111C>G , CM000670.2:g.143933111C>G	GRCh38
NC_000008.10:g.145007279C>G , CM000670.1:g.145007279C>G	GRCh37
NC_000008.9:g.145079267C>G	NCBI36
NG_012492.1:g.48635G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.1551G>C	ENSP00000437303.2:p.Arg517Ser
ENST00000685198.1:c.1470G>C	ENSP00000510528.1:p.Arg490Ser
ENST00000687971.1:c.1137G>C	ENSP00000510788.1:p.Arg379Ser
ENST00000693060.1:c.1350G>C	ENSP00000510329.1:p.Arg450Ser
ENST00000345136.8:c.1419G>C MANE Select	ENSP00000344848.3:p.Arg473Ser
ENST00000527303.2:c.1500G>C	ENSP00000433982.2:p.Arg500Ser
ENST00000322810.8:c.1830G>C	ENSP00000323856.4:p.Arg610Ser
ENST00000345136.7:c.1419G>C	ENSP00000344848.3:p.Arg473Ser
ENST00000354589.7:c.1419G>C	ENSP00000346602.3:p.Arg473Ser
ENST00000354958.6:c.1353G>C	ENSP00000347044.2:p.Arg451Ser
ENST00000356346.7:c.1377G>C MANE Plus Clinical	ENSP00000348702.3:p.Arg459Ser
ENST00000357649.6:c.1431G>C	ENSP00000350277.2:p.Arg477Ser
ENST00000398774.6:c.1323G>C	ENSP00000381756.2:p.Arg441Ser
ENST00000436759.6:c.1500G>C	ENSP00000388180.2:p.Arg500Ser
ENST00000527096.5:c.1488G>C	ENSP00000434583.1:p.Arg496Ser
ENST00000528025.5:c.1551G>C	ENSP00000437303.1:p.Arg517Ser
NM_000445.4:c.1500G>C	NP_000436.2:p.Arg500Ser
NM_201378.3:c.1377G>C	NP_958780.1:p.Arg459Ser
NM_201379.2:c.1353G>C	NP_958781.1:p.Arg451Ser
NM_201380.3:c.1830G>C	NP_958782.1:p.Arg610Ser
NM_201381.2:c.1323G>C	NP_958783.1:p.Arg441Ser
NM_201382.3:c.1419G>C	NP_958784.1:p.Arg473Ser
NM_201383.2:c.1431G>C	NP_958785.1:p.Arg477Ser
NM_201384.2:c.1419G>C	NP_958786.1:p.Arg473Ser
XM_005250976.2:c.1845G>C	XP_005251033.1:p.Arg615Ser
XM_005250978.2:c.1446G>C	XP_005251035.1:p.Arg482Ser
XM_005250979.3:c.1434G>C	XP_005251036.1:p.Arg478Ser
XM_005250980.3:c.1434G>C	XP_005251037.1:p.Arg478Ser
XM_005250981.2:c.1392G>C	XP_005251038.1:p.Arg464Ser
XM_005250982.2:c.1368G>C	XP_005251039.1:p.Arg456Ser
XM_005250983.2:c.1350G>C	XP_005251040.1:p.Arg450Ser
XM_005250984.3:c.1338G>C	XP_005251041.1:p.Arg446Ser
XM_006716588.2:c.1515G>C	XP_006716651.1:p.Arg505Ser
XM_006716589.2:c.1365G>C	XP_006716652.1:p.Arg455Ser
XM_006716590.2:c.1365G>C	XP_006716653.1:p.Arg455Ser
XM_011517130.1:c.1434G>C	XP_011515432.1:p.Arg478Ser
XM_011517131.1:c.1350G>C	XP_011515433.1:p.Arg450Ser
XM_011517132.1:c.1446G>C	XP_011515434.1:p.Arg482Ser
XM_005250976.4:c.1845G>C	XP_005251033.1:p.Arg615Ser
XM_005250978.3:c.1446G>C	XP_005251035.1:p.Arg482Ser
XM_005250979.4:c.1434G>C	XP_005251036.1:p.Arg478Ser
XM_005250980.4:c.1434G>C	XP_005251037.1:p.Arg478Ser
XM_005250981.3:c.1392G>C	XP_005251038.1:p.Arg464Ser
XM_005250982.4:c.1368G>C	XP_005251039.1:p.Arg456Ser
XM_005250984.5:c.1338G>C	XP_005251041.1:p.Arg446Ser
XM_006716588.3:c.1515G>C	XP_006716651.1:p.Arg505Ser
XM_006716590.3:c.1365G>C	XP_006716653.1:p.Arg455Ser
XM_011517130.2:c.1434G>C	XP_011515432.1:p.Arg478Ser
XM_011517131.2:c.1350G>C	XP_011515433.1:p.Arg450Ser
XM_011517132.2:c.1446G>C	XP_011515434.1:p.Arg482Ser
NM_000445.5:c.1500G>C	NP_000436.2:p.Arg500Ser
NM_201378.4:c.1377G>C MANE Plus Clinical	NP_958780.1:p.Arg459Ser
NM_201379.3:c.1353G>C	NP_958781.1:p.Arg451Ser
NM_201380.4:c.1830G>C	NP_958782.1:p.Arg610Ser
NM_201381.3:c.1323G>C	NP_958783.1:p.Arg441Ser
NM_201382.4:c.1419G>C	NP_958784.1:p.Arg473Ser
NM_201383.3:c.1431G>C	NP_958785.1:p.Arg477Ser
NM_201384.3:c.1419G>C MANE Select	NP_958786.1:p.Arg473Ser