Canonical Allele Identifier: CA372481438

Gene: PLEC

Linked Data

• ClinVar Variation Id: 487243
• ClinVar RCV Id: RCV000576249
• dbSNP Id: rs1554671816
• MyVariant Identifiers: chr8:g.144991505G>C (hg19) ; chr8:g.143917337G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143917337G>C , CM000670.2:g.143917337G>C	GRCh38
NC_000008.10:g.144991505G>C , CM000670.1:g.144991505G>C	GRCh37
NC_000008.9:g.145063493G>C	NCBI36
NG_012492.1:g.64409C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000528025.6:c.12616C>G	ENSP00000437303.2:p.Leu4206Val
ENST00000685198.1:c.12535C>G	ENSP00000510528.1:p.Leu4179Val
ENST00000687971.1:c.12202C>G	ENSP00000510788.1:p.Leu4068Val
ENST00000693060.1:c.12415C>G	ENSP00000510329.1:p.Leu4139Val
ENST00000345136.8:c.12484C>G MANE Select	ENSP00000344848.3:p.Leu4162Val
ENST00000527303.2:c.9184C>G	ENSP00000433982.2:p.Leu3062Val
ENST00000322810.8:c.12895C>G	ENSP00000323856.4:p.Leu4299Val
ENST00000345136.7:c.12484C>G	ENSP00000344848.3:p.Leu4162Val
ENST00000354589.7:c.12484C>G	ENSP00000346602.3:p.Leu4162Val
ENST00000354958.6:c.12418C>G	ENSP00000347044.2:p.Leu4140Val
ENST00000356346.7:c.12442C>G MANE Plus Clinical	ENSP00000348702.3:p.Leu4148Val
ENST00000357649.6:c.12496C>G	ENSP00000350277.2:p.Leu4166Val
ENST00000398774.6:c.12388C>G	ENSP00000381756.2:p.Leu4130Val
ENST00000436759.6:c.12565C>G	ENSP00000388180.2:p.Leu4189Val
ENST00000527096.5:c.12553C>G	ENSP00000434583.1:p.Leu4185Val
NM_000445.4:c.12565C>G	NP_000436.2:p.Leu4189Val
NM_201378.3:c.12442C>G	NP_958780.1:p.Leu4148Val
NM_201379.2:c.12418C>G	NP_958781.1:p.Leu4140Val
NM_201380.3:c.12895C>G	NP_958782.1:p.Leu4299Val
NM_201381.2:c.12388C>G	NP_958783.1:p.Leu4130Val
NM_201382.3:c.12484C>G	NP_958784.1:p.Leu4162Val
NM_201383.2:c.12496C>G	NP_958785.1:p.Leu4166Val
NM_201384.2:c.12484C>G	NP_958786.1:p.Leu4162Val
XM_005250976.2:c.12910C>G	XP_005251033.1:p.Leu4304Val
XM_005250978.2:c.12511C>G	XP_005251035.1:p.Leu4171Val
XM_005250979.3:c.12499C>G	XP_005251036.1:p.Leu4167Val
XM_005250980.3:c.12499C>G	XP_005251037.1:p.Leu4167Val
XM_005250981.2:c.12457C>G	XP_005251038.1:p.Leu4153Val
XM_005250982.2:c.12433C>G	XP_005251039.1:p.Leu4145Val
XM_005250983.2:c.12415C>G	XP_005251040.1:p.Leu4139Val
XM_005250984.3:c.12403C>G	XP_005251041.1:p.Leu4135Val
XM_006716588.2:c.12580C>G	XP_006716651.1:p.Leu4194Val
XM_006716589.2:c.12430C>G	XP_006716652.1:p.Leu4144Val
XM_006716590.2:c.12430C>G	XP_006716653.1:p.Leu4144Val
XM_011517130.1:c.12499C>G	XP_011515432.1:p.Leu4167Val
XM_011517131.1:c.12415C>G	XP_011515433.1:p.Leu4139Val
XM_011517132.1:c.9130C>G	XP_011515434.1:p.Leu3044Val
XM_005250976.4:c.12910C>G	XP_005251033.1:p.Leu4304Val
XM_005250978.3:c.12511C>G	XP_005251035.1:p.Leu4171Val
XM_005250979.4:c.12499C>G	XP_005251036.1:p.Leu4167Val
XM_005250980.4:c.12499C>G	XP_005251037.1:p.Leu4167Val
XM_005250981.3:c.12457C>G	XP_005251038.1:p.Leu4153Val
XM_005250982.4:c.12433C>G	XP_005251039.1:p.Leu4145Val
XM_005250984.5:c.12403C>G	XP_005251041.1:p.Leu4135Val
XM_006716588.3:c.12580C>G	XP_006716651.1:p.Leu4194Val
XM_006716590.3:c.12430C>G	XP_006716653.1:p.Leu4144Val
XM_011517130.2:c.12499C>G	XP_011515432.1:p.Leu4167Val
XM_011517131.2:c.12415C>G	XP_011515433.1:p.Leu4139Val
XM_011517132.2:c.9130C>G	XP_011515434.1:p.Leu3044Val
NM_000445.5:c.12565C>G	NP_000436.2:p.Leu4189Val
NM_201378.4:c.12442C>G MANE Plus Clinical	NP_958780.1:p.Leu4148Val
NM_201379.3:c.12418C>G	NP_958781.1:p.Leu4140Val
NM_201380.4:c.12895C>G	NP_958782.1:p.Leu4299Val
NM_201381.3:c.12388C>G	NP_958783.1:p.Leu4130Val
NM_201382.4:c.12484C>G	NP_958784.1:p.Leu4162Val
NM_201383.3:c.12496C>G	NP_958785.1:p.Leu4166Val
NM_201384.3:c.12484C>G MANE Select	NP_958786.1:p.Leu4162Val