Canonical Allele Identifier: CA1826052359
Gene: PLEC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143934923G= , CM000670.2:g.143934923G= GRCh38
NC_000008.10:g.145009091G= , CM000670.1:g.145009091G= GRCh37
NC_000008.9:g.145081079G= NCBI36
NG_012492.1:g.46823C=

Transcript Alleles

HGVS Amino-acid Change
NM_201384.3:c.832C= MANE Select NP_958786.1:p.Gln278=
ENST00000345136.8:c.832C= MANE Select ENSP00000344848.3:p.Gln278=
NM_201378.4:c.790C= MANE Plus Clinical NP_958780.1:p.Gln264=
ENST00000356346.7:c.790C= MANE Plus Clinical ENSP00000348702.3:p.Gln264=
NM_000445.4:c.913C= NP_000436.2:p.Gln305=
NM_000445.5:c.913C= NP_000436.2:p.Gln305=
NM_201378.3:c.790C= NP_958780.1:p.Gln264=
NM_201379.2:c.766C= NP_958781.1:p.Gln256=
NM_201379.3:c.766C= NP_958781.1:p.Gln256=
NM_201380.3:c.1243C= NP_958782.1:p.Gln415=
NM_201380.4:c.1243C= NP_958782.1:p.Gln415=
NM_201381.2:c.736C= NP_958783.1:p.Gln246=
NM_201381.3:c.736C= NP_958783.1:p.Gln246=
NM_201382.3:c.832C= NP_958784.1:p.Gln278=
NM_201382.4:c.832C= NP_958784.1:p.Gln278=
NM_201383.2:c.844C= NP_958785.1:p.Gln282=
NM_201383.3:c.844C= NP_958785.1:p.Gln282=
NM_201384.2:c.832C= NP_958786.1:p.Gln278=
ENST00000322810.8:c.1243C= ENSP00000323856.4:p.Gln415=
ENST00000345136.7:c.832C= ENSP00000344848.3:p.Gln278=
ENST00000354589.7:c.832C= ENSP00000346602.3:p.Gln278=
ENST00000354958.6:c.766C= ENSP00000347044.2:p.Gln256=
ENST00000357649.6:c.844C= ENSP00000350277.2:p.Gln282=
ENST00000398774.6:c.736C= ENSP00000381756.2:p.Gln246=
ENST00000436759.6:c.913C= ENSP00000388180.2:p.Gln305=
ENST00000527096.5:c.901C= ENSP00000434583.1:p.Gln301=
ENST00000527303.2:c.913C= ENSP00000433982.2:p.Gln305=
ENST00000528025.5:c.964C= ENSP00000437303.1:p.Gln322=
ENST00000528025.6:c.964C= ENSP00000437303.2:p.Gln322=
ENST00000685198.1:c.883C= ENSP00000510528.1:p.Gln295=
ENST00000687971.1:c.550C= ENSP00000510788.1:p.Gln184=
ENST00000693060.1:c.763C= ENSP00000510329.1:p.Gln255=
XM_005250976.2:c.1258C= XP_005251033.1:p.Gln420=
XM_005250976.4:c.1258C= XP_005251033.1:p.Gln420=
XM_005250978.2:c.859C= XP_005251035.1:p.Gln287=
XM_005250978.3:c.859C= XP_005251035.1:p.Gln287=
XM_005250979.3:c.847C= XP_005251036.1:p.Gln283=
XM_005250979.4:c.847C= XP_005251036.1:p.Gln283=
XM_005250980.3:c.847C= XP_005251037.1:p.Gln283=
XM_005250980.4:c.847C= XP_005251037.1:p.Gln283=
XM_005250981.2:c.805C= XP_005251038.1:p.Gln269=
XM_005250981.3:c.805C= XP_005251038.1:p.Gln269=
XM_005250982.2:c.781C= XP_005251039.1:p.Gln261=
XM_005250982.4:c.781C= XP_005251039.1:p.Gln261=
XM_005250983.2:c.763C= XP_005251040.1:p.Gln255=
XM_005250984.3:c.751C= XP_005251041.1:p.Gln251=
XM_005250984.5:c.751C= XP_005251041.1:p.Gln251=
XM_006716588.2:c.928C= XP_006716651.1:p.Gln310=
XM_006716588.3:c.928C= XP_006716651.1:p.Gln310=
XM_006716589.2:c.778C= XP_006716652.1:p.Gln260=
XM_006716590.2:c.778C= XP_006716653.1:p.Gln260=
XM_006716590.3:c.778C= XP_006716653.1:p.Gln260=
XM_011517130.1:c.847C= XP_011515432.1:p.Gln283=
XM_011517130.2:c.847C= XP_011515432.1:p.Gln283=
XM_011517131.1:c.763C= XP_011515433.1:p.Gln255=
XM_011517131.2:c.763C= XP_011515433.1:p.Gln255=
XM_011517132.1:c.859C= XP_011515434.1:p.Gln287=
XM_011517132.2:c.859C= XP_011515434.1:p.Gln287=