Canonical Allele Identifier: CA372475635
Gene: PLEC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916493T>A , CM000670.2:g.143916493T>A GRCh38
NC_000008.10:g.144990661T>A , CM000670.1:g.144990661T>A GRCh37
NC_000008.9:g.145062649T>A NCBI36
NG_012492.1:g.65253A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13460A>T ENSP00000437303.2:p.Lys4487Met
ENST00000685198.1:c.13379A>T ENSP00000510528.1:p.Lys4460Met
ENST00000687971.1:c.13046A>T ENSP00000510788.1:p.Lys4349Met
ENST00000693060.1:c.13259A>T ENSP00000510329.1:p.Lys4420Met
ENST00000345136.8:c.13328A>T MANE Select ENSP00000344848.3:p.Lys4443Met
ENST00000527303.2:c.10028A>T ENSP00000433982.2:p.Lys3343Met
ENST00000322810.8:c.13739A>T ENSP00000323856.4:p.Lys4580Met
ENST00000345136.7:c.13328A>T ENSP00000344848.3:p.Lys4443Met
ENST00000354589.7:c.13328A>T ENSP00000346602.3:p.Lys4443Met
ENST00000354958.6:c.13262A>T ENSP00000347044.2:p.Lys4421Met
ENST00000356346.7:c.13286A>T MANE Plus Clinical ENSP00000348702.3:p.Lys4429Met
ENST00000357649.6:c.13340A>T ENSP00000350277.2:p.Lys4447Met
ENST00000398774.6:c.13232A>T ENSP00000381756.2:p.Lys4411Met
ENST00000436759.6:c.13409A>T ENSP00000388180.2:p.Lys4470Met
ENST00000527096.5:c.13397A>T ENSP00000434583.1:p.Lys4466Met
NM_000445.4:c.13409A>T NP_000436.2:p.Lys4470Met
NM_201378.3:c.13286A>T NP_958780.1:p.Lys4429Met
NM_201379.2:c.13262A>T NP_958781.1:p.Lys4421Met
NM_201380.3:c.13739A>T NP_958782.1:p.Lys4580Met
NM_201381.2:c.13232A>T NP_958783.1:p.Lys4411Met
NM_201382.3:c.13328A>T NP_958784.1:p.Lys4443Met
NM_201383.2:c.13340A>T NP_958785.1:p.Lys4447Met
NM_201384.2:c.13328A>T NP_958786.1:p.Lys4443Met
XM_005250976.2:c.13754A>T XP_005251033.1:p.Lys4585Met
XM_005250978.2:c.13355A>T XP_005251035.1:p.Lys4452Met
XM_005250979.3:c.13343A>T XP_005251036.1:p.Lys4448Met
XM_005250980.3:c.13343A>T XP_005251037.1:p.Lys4448Met
XM_005250981.2:c.13301A>T XP_005251038.1:p.Lys4434Met
XM_005250982.2:c.13277A>T XP_005251039.1:p.Lys4426Met
XM_005250983.2:c.13259A>T XP_005251040.1:p.Lys4420Met
XM_005250984.3:c.13247A>T XP_005251041.1:p.Lys4416Met
XM_006716588.2:c.13424A>T XP_006716651.1:p.Lys4475Met
XM_006716589.2:c.13274A>T XP_006716652.1:p.Lys4425Met
XM_006716590.2:c.13274A>T XP_006716653.1:p.Lys4425Met
XM_011517130.1:c.13343A>T XP_011515432.1:p.Lys4448Met
XM_011517131.1:c.13259A>T XP_011515433.1:p.Lys4420Met
XM_011517132.1:c.9974A>T XP_011515434.1:p.Lys3325Met
XM_005250976.4:c.13754A>T XP_005251033.1:p.Lys4585Met
XM_005250978.3:c.13355A>T XP_005251035.1:p.Lys4452Met
XM_005250979.4:c.13343A>T XP_005251036.1:p.Lys4448Met
XM_005250980.4:c.13343A>T XP_005251037.1:p.Lys4448Met
XM_005250981.3:c.13301A>T XP_005251038.1:p.Lys4434Met
XM_005250982.4:c.13277A>T XP_005251039.1:p.Lys4426Met
XM_005250984.5:c.13247A>T XP_005251041.1:p.Lys4416Met
XM_006716588.3:c.13424A>T XP_006716651.1:p.Lys4475Met
XM_006716590.3:c.13274A>T XP_006716653.1:p.Lys4425Met
XM_011517130.2:c.13343A>T XP_011515432.1:p.Lys4448Met
XM_011517131.2:c.13259A>T XP_011515433.1:p.Lys4420Met
XM_011517132.2:c.9974A>T XP_011515434.1:p.Lys3325Met
NM_000445.5:c.13409A>T NP_000436.2:p.Lys4470Met
NM_201378.4:c.13286A>T MANE Plus Clinical NP_958780.1:p.Lys4429Met
NM_201379.3:c.13262A>T NP_958781.1:p.Lys4421Met
NM_201380.4:c.13739A>T NP_958782.1:p.Lys4580Met
NM_201381.3:c.13232A>T NP_958783.1:p.Lys4411Met
NM_201382.4:c.13328A>T NP_958784.1:p.Lys4443Met
NM_201383.3:c.13340A>T NP_958785.1:p.Lys4447Met
NM_201384.3:c.13328A>T MANE Select NP_958786.1:p.Lys4443Met