Canonical Allele Identifier: CA372584517

Gene: PLEC

Linked Data

• COSMIC: COSM6208241 ; COSM6208242 ; COSM6208243 ; COSM6208244 ; COSM6208245 ; COSM6208246 ; COSM6208247
• MyVariant Identifiers: chr8:g.145008499T>G (hg19) ; chr8:g.143934331T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143934331T>G , CM000670.2:g.143934331T>G	GRCh38
NC_000008.10:g.145008499T>G , CM000670.1:g.145008499T>G	GRCh37
NC_000008.9:g.145080487T>G	NCBI36
NG_012492.1:g.47415A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.1288A>C	ENSP00000437303.2:p.Ser430Arg
ENST00000685198.1:c.1207A>C	ENSP00000510528.1:p.Ser403Arg
ENST00000687971.1:c.874A>C	ENSP00000510788.1:p.Ser292Arg
ENST00000693060.1:c.1087A>C	ENSP00000510329.1:p.Ser363Arg
ENST00000345136.8:c.1156A>C MANE Select	ENSP00000344848.3:p.Ser386Arg
ENST00000527303.2:c.1237A>C	ENSP00000433982.2:p.Ser413Arg
ENST00000322810.8:c.1567A>C	ENSP00000323856.4:p.Ser523Arg
ENST00000345136.7:c.1156A>C	ENSP00000344848.3:p.Ser386Arg
ENST00000354589.7:c.1156A>C	ENSP00000346602.3:p.Ser386Arg
ENST00000354958.6:c.1090A>C	ENSP00000347044.2:p.Ser364Arg
ENST00000356346.7:c.1114A>C MANE Plus Clinical	ENSP00000348702.3:p.Ser372Arg
ENST00000357649.6:c.1168A>C	ENSP00000350277.2:p.Ser390Arg
ENST00000398774.6:c.1060A>C	ENSP00000381756.2:p.Ser354Arg
ENST00000436759.6:c.1237A>C	ENSP00000388180.2:p.Ser413Arg
ENST00000527096.5:c.1225A>C	ENSP00000434583.1:p.Ser409Arg
ENST00000528025.5:c.1288A>C	ENSP00000437303.1:p.Ser430Arg
NM_000445.4:c.1237A>C	NP_000436.2:p.Ser413Arg
NM_201378.3:c.1114A>C	NP_958780.1:p.Ser372Arg
NM_201379.2:c.1090A>C	NP_958781.1:p.Ser364Arg
NM_201380.3:c.1567A>C	NP_958782.1:p.Ser523Arg
NM_201381.2:c.1060A>C	NP_958783.1:p.Ser354Arg
NM_201382.3:c.1156A>C	NP_958784.1:p.Ser386Arg
NM_201383.2:c.1168A>C	NP_958785.1:p.Ser390Arg
NM_201384.2:c.1156A>C	NP_958786.1:p.Ser386Arg
XM_005250976.2:c.1582A>C	XP_005251033.1:p.Ser528Arg
XM_005250978.2:c.1183A>C	XP_005251035.1:p.Ser395Arg
XM_005250979.3:c.1171A>C	XP_005251036.1:p.Ser391Arg
XM_005250980.3:c.1171A>C	XP_005251037.1:p.Ser391Arg
XM_005250981.2:c.1129A>C	XP_005251038.1:p.Ser377Arg
XM_005250982.2:c.1105A>C	XP_005251039.1:p.Ser369Arg
XM_005250983.2:c.1087A>C	XP_005251040.1:p.Ser363Arg
XM_005250984.3:c.1075A>C	XP_005251041.1:p.Ser359Arg
XM_006716588.2:c.1252A>C	XP_006716651.1:p.Ser418Arg
XM_006716589.2:c.1102A>C	XP_006716652.1:p.Ser368Arg
XM_006716590.2:c.1102A>C	XP_006716653.1:p.Ser368Arg
XM_011517130.1:c.1171A>C	XP_011515432.1:p.Ser391Arg
XM_011517131.1:c.1087A>C	XP_011515433.1:p.Ser363Arg
XM_011517132.1:c.1183A>C	XP_011515434.1:p.Ser395Arg
XM_005250976.4:c.1582A>C	XP_005251033.1:p.Ser528Arg
XM_005250978.3:c.1183A>C	XP_005251035.1:p.Ser395Arg
XM_005250979.4:c.1171A>C	XP_005251036.1:p.Ser391Arg
XM_005250980.4:c.1171A>C	XP_005251037.1:p.Ser391Arg
XM_005250981.3:c.1129A>C	XP_005251038.1:p.Ser377Arg
XM_005250982.4:c.1105A>C	XP_005251039.1:p.Ser369Arg
XM_005250984.5:c.1075A>C	XP_005251041.1:p.Ser359Arg
XM_006716588.3:c.1252A>C	XP_006716651.1:p.Ser418Arg
XM_006716590.3:c.1102A>C	XP_006716653.1:p.Ser368Arg
XM_011517130.2:c.1171A>C	XP_011515432.1:p.Ser391Arg
XM_011517131.2:c.1087A>C	XP_011515433.1:p.Ser363Arg
XM_011517132.2:c.1183A>C	XP_011515434.1:p.Ser395Arg
NM_000445.5:c.1237A>C	NP_000436.2:p.Ser413Arg
NM_201378.4:c.1114A>C MANE Plus Clinical	NP_958780.1:p.Ser372Arg
NM_201379.3:c.1090A>C	NP_958781.1:p.Ser364Arg
NM_201380.4:c.1567A>C	NP_958782.1:p.Ser523Arg
NM_201381.3:c.1060A>C	NP_958783.1:p.Ser354Arg
NM_201382.4:c.1156A>C	NP_958784.1:p.Ser386Arg
NM_201383.3:c.1168A>C	NP_958785.1:p.Ser390Arg
NM_201384.3:c.1156A>C MANE Select	NP_958786.1:p.Ser386Arg