Canonical Allele Identifier: CA372474544
Gene: PLEC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916404C>G , CM000670.2:g.143916404C>G GRCh38
NC_000008.10:g.144990572C>G , CM000670.1:g.144990572C>G GRCh37
NC_000008.9:g.145062560C>G NCBI36
NG_012492.1:g.65342G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13549G>C ENSP00000437303.2:p.Gly4517Arg
ENST00000685198.1:c.13468G>C ENSP00000510528.1:p.Gly4490Arg
ENST00000687971.1:c.13135G>C ENSP00000510788.1:p.Gly4379Arg
ENST00000693060.1:c.13348G>C ENSP00000510329.1:p.Gly4450Arg
ENST00000345136.8:c.13417G>C MANE Select ENSP00000344848.3:p.Gly4473Arg
ENST00000527303.2:c.10117G>C ENSP00000433982.2:p.Gly3373Arg
ENST00000322810.8:c.13828G>C ENSP00000323856.4:p.Gly4610Arg
ENST00000345136.7:c.13417G>C ENSP00000344848.3:p.Gly4473Arg
ENST00000354589.7:c.13417G>C ENSP00000346602.3:p.Gly4473Arg
ENST00000354958.6:c.13351G>C ENSP00000347044.2:p.Gly4451Arg
ENST00000356346.7:c.13375G>C MANE Plus Clinical ENSP00000348702.3:p.Gly4459Arg
ENST00000357649.6:c.13429G>C ENSP00000350277.2:p.Gly4477Arg
ENST00000398774.6:c.13321G>C ENSP00000381756.2:p.Gly4441Arg
ENST00000436759.6:c.13498G>C ENSP00000388180.2:p.Gly4500Arg
ENST00000527096.5:c.13486G>C ENSP00000434583.1:p.Gly4496Arg
NM_000445.4:c.13498G>C NP_000436.2:p.Gly4500Arg
NM_201378.3:c.13375G>C NP_958780.1:p.Gly4459Arg
NM_201379.2:c.13351G>C NP_958781.1:p.Gly4451Arg
NM_201380.3:c.13828G>C NP_958782.1:p.Gly4610Arg
NM_201381.2:c.13321G>C NP_958783.1:p.Gly4441Arg
NM_201382.3:c.13417G>C NP_958784.1:p.Gly4473Arg
NM_201383.2:c.13429G>C NP_958785.1:p.Gly4477Arg
NM_201384.2:c.13417G>C NP_958786.1:p.Gly4473Arg
XM_005250976.2:c.13843G>C XP_005251033.1:p.Gly4615Arg
XM_005250978.2:c.13444G>C XP_005251035.1:p.Gly4482Arg
XM_005250979.3:c.13432G>C XP_005251036.1:p.Gly4478Arg
XM_005250980.3:c.13432G>C XP_005251037.1:p.Gly4478Arg
XM_005250981.2:c.13390G>C XP_005251038.1:p.Gly4464Arg
XM_005250982.2:c.13366G>C XP_005251039.1:p.Gly4456Arg
XM_005250983.2:c.13348G>C XP_005251040.1:p.Gly4450Arg
XM_005250984.3:c.13336G>C XP_005251041.1:p.Gly4446Arg
XM_006716588.2:c.13513G>C XP_006716651.1:p.Gly4505Arg
XM_006716589.2:c.13363G>C XP_006716652.1:p.Gly4455Arg
XM_006716590.2:c.13363G>C XP_006716653.1:p.Gly4455Arg
XM_011517130.1:c.13432G>C XP_011515432.1:p.Gly4478Arg
XM_011517131.1:c.13348G>C XP_011515433.1:p.Gly4450Arg
XM_011517132.1:c.10063G>C XP_011515434.1:p.Gly3355Arg
XM_005250976.4:c.13843G>C XP_005251033.1:p.Gly4615Arg
XM_005250978.3:c.13444G>C XP_005251035.1:p.Gly4482Arg
XM_005250979.4:c.13432G>C XP_005251036.1:p.Gly4478Arg
XM_005250980.4:c.13432G>C XP_005251037.1:p.Gly4478Arg
XM_005250981.3:c.13390G>C XP_005251038.1:p.Gly4464Arg
XM_005250982.4:c.13366G>C XP_005251039.1:p.Gly4456Arg
XM_005250984.5:c.13336G>C XP_005251041.1:p.Gly4446Arg
XM_006716588.3:c.13513G>C XP_006716651.1:p.Gly4505Arg
XM_006716590.3:c.13363G>C XP_006716653.1:p.Gly4455Arg
XM_011517130.2:c.13432G>C XP_011515432.1:p.Gly4478Arg
XM_011517131.2:c.13348G>C XP_011515433.1:p.Gly4450Arg
XM_011517132.2:c.10063G>C XP_011515434.1:p.Gly3355Arg
NM_000445.5:c.13498G>C NP_000436.2:p.Gly4500Arg
NM_201378.4:c.13375G>C MANE Plus Clinical NP_958780.1:p.Gly4459Arg
NM_201379.3:c.13351G>C NP_958781.1:p.Gly4451Arg
NM_201380.4:c.13828G>C NP_958782.1:p.Gly4610Arg
NM_201381.3:c.13321G>C NP_958783.1:p.Gly4441Arg
NM_201382.4:c.13417G>C NP_958784.1:p.Gly4473Arg
NM_201383.3:c.13429G>C NP_958785.1:p.Gly4477Arg
NM_201384.3:c.13417G>C MANE Select NP_958786.1:p.Gly4473Arg