Canonical Allele Identifier: CA242910
Gene: PLEC HGNC NCBI

Linked Data

ClinVar Variation Id: 196104
dbSNP Id: rs201552166

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143927421G>T , CM000670.2:g.143927421G>T GRCh38
NC_000008.10:g.145001589G>T , CM000670.1:g.145001589G>T GRCh37
NC_000008.9:g.145073577G>T NCBI36
NG_012492.1:g.54325C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000528025.6:c.3877C>A ENSP00000437303.2:p.Arg1293=
ENST00000685198.1:c.3796C>A ENSP00000510528.1:p.Arg1266=
ENST00000687971.1:c.3463C>A ENSP00000510788.1:p.Arg1155=
ENST00000693060.1:c.3676C>A ENSP00000510329.1:p.Arg1226=
ENST00000345136.8:c.3745C>A MANE Select ENSP00000344848.3:p.Arg1249=
ENST00000527303.2:c.3826C>A ENSP00000433982.2:p.Arg1276=
ENST00000322810.8:c.4156C>A ENSP00000323856.4:p.Arg1386=
ENST00000345136.7:c.3745C>A ENSP00000344848.3:p.Arg1249=
ENST00000354589.7:c.3745C>A ENSP00000346602.3:p.Arg1249=
ENST00000354958.6:c.3679C>A ENSP00000347044.2:p.Arg1227=
ENST00000356346.7:c.3703C>A MANE Plus Clinical ENSP00000348702.3:p.Arg1235=
ENST00000357649.6:c.3757C>A ENSP00000350277.2:p.Arg1253=
ENST00000398774.6:c.3649C>A ENSP00000381756.2:p.Arg1217=
ENST00000436759.6:c.3826C>A ENSP00000388180.2:p.Arg1276=
ENST00000527096.5:c.3814C>A ENSP00000434583.1:p.Arg1272=
NM_000445.4:c.3826C>A NP_000436.2:p.Arg1276=
NM_201378.3:c.3703C>A NP_958780.1:p.Arg1235=
NM_201379.2:c.3679C>A NP_958781.1:p.Arg1227=
NM_201380.3:c.4156C>A NP_958782.1:p.Arg1386=
NM_201381.2:c.3649C>A NP_958783.1:p.Arg1217=
NM_201382.3:c.3745C>A NP_958784.1:p.Arg1249=
NM_201383.2:c.3757C>A NP_958785.1:p.Arg1253=
NM_201384.2:c.3745C>A NP_958786.1:p.Arg1249=
XM_005250976.2:c.4171C>A XP_005251033.1:p.Arg1391=
XM_005250978.2:c.3772C>A XP_005251035.1:p.Arg1258=
XM_005250979.3:c.3760C>A XP_005251036.1:p.Arg1254=
XM_005250980.3:c.3760C>A XP_005251037.1:p.Arg1254=
XM_005250981.2:c.3718C>A XP_005251038.1:p.Arg1240=
XM_005250982.2:c.3694C>A XP_005251039.1:p.Arg1232=
XM_005250983.2:c.3676C>A XP_005251040.1:p.Arg1226=
XM_005250984.3:c.3664C>A XP_005251041.1:p.Arg1222=
XM_006716588.2:c.3841C>A XP_006716651.1:p.Arg1281=
XM_006716589.2:c.3691C>A XP_006716652.1:p.Arg1231=
XM_006716590.2:c.3691C>A XP_006716653.1:p.Arg1231=
XM_011517130.1:c.3760C>A XP_011515432.1:p.Arg1254=
XM_011517131.1:c.3676C>A XP_011515433.1:p.Arg1226=
XM_011517132.1:c.3772C>A XP_011515434.1:p.Arg1258=
XM_005250976.4:c.4171C>A XP_005251033.1:p.Arg1391=
XM_005250978.3:c.3772C>A XP_005251035.1:p.Arg1258=
XM_005250979.4:c.3760C>A XP_005251036.1:p.Arg1254=
XM_005250980.4:c.3760C>A XP_005251037.1:p.Arg1254=
XM_005250981.3:c.3718C>A XP_005251038.1:p.Arg1240=
XM_005250982.4:c.3694C>A XP_005251039.1:p.Arg1232=
XM_005250984.5:c.3664C>A XP_005251041.1:p.Arg1222=
XM_006716588.3:c.3841C>A XP_006716651.1:p.Arg1281=
XM_006716590.3:c.3691C>A XP_006716653.1:p.Arg1231=
XM_011517130.2:c.3760C>A XP_011515432.1:p.Arg1254=
XM_011517131.2:c.3676C>A XP_011515433.1:p.Arg1226=
XM_011517132.2:c.3772C>A XP_011515434.1:p.Arg1258=
NM_000445.5:c.3826C>A NP_000436.2:p.Arg1276=
NM_201378.4:c.3703C>A MANE Plus Clinical NP_958780.1:p.Arg1235=
NM_201379.3:c.3679C>A NP_958781.1:p.Arg1227=
NM_201380.4:c.4156C>A NP_958782.1:p.Arg1386=
NM_201381.3:c.3649C>A NP_958783.1:p.Arg1217=
NM_201382.4:c.3745C>A NP_958784.1:p.Arg1249=
NM_201383.3:c.3757C>A NP_958785.1:p.Arg1253=
NM_201384.3:c.3745C>A MANE Select NP_958786.1:p.Arg1249=