Canonical Allele Identifier: CA372474507

Gene: PLEC

Linked Data

• ClinVar Variation Id: 2923909
• ClinVar RCV Id: RCV003783467
• dbSNP Id: rs1554668952
• gnomAD v2: 8-144990563-T-C
• gnomAD v4: 8-143916395-T-C
• MyVariant Identifiers: chr8:g.144990563T>C (hg19) ; chr8:g.143916395T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916395T>C , CM000670.2:g.143916395T>C	GRCh38
NC_000008.10:g.144990563T>C , CM000670.1:g.144990563T>C	GRCh37
NC_000008.9:g.145062551T>C	NCBI36
NG_012492.1:g.65351A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13558A>G	ENSP00000437303.2:p.Ser4520Gly
ENST00000685198.1:c.13477A>G	ENSP00000510528.1:p.Ser4493Gly
ENST00000687971.1:c.13144A>G	ENSP00000510788.1:p.Ser4382Gly
ENST00000693060.1:c.13357A>G	ENSP00000510329.1:p.Ser4453Gly
ENST00000345136.8:c.13426A>G MANE Select	ENSP00000344848.3:p.Ser4476Gly
ENST00000527303.2:c.10126A>G	ENSP00000433982.2:p.Ser3376Gly
ENST00000322810.8:c.13837A>G	ENSP00000323856.4:p.Ser4613Gly
ENST00000345136.7:c.13426A>G	ENSP00000344848.3:p.Ser4476Gly
ENST00000354589.7:c.13426A>G	ENSP00000346602.3:p.Ser4476Gly
ENST00000354958.6:c.13360A>G	ENSP00000347044.2:p.Ser4454Gly
ENST00000356346.7:c.13384A>G MANE Plus Clinical	ENSP00000348702.3:p.Ser4462Gly
ENST00000357649.6:c.13438A>G	ENSP00000350277.2:p.Ser4480Gly
ENST00000398774.6:c.13330A>G	ENSP00000381756.2:p.Ser4444Gly
ENST00000436759.6:c.13507A>G	ENSP00000388180.2:p.Ser4503Gly
ENST00000527096.5:c.13495A>G	ENSP00000434583.1:p.Ser4499Gly
NM_000445.4:c.13507A>G	NP_000436.2:p.Ser4503Gly
NM_201378.3:c.13384A>G	NP_958780.1:p.Ser4462Gly
NM_201379.2:c.13360A>G	NP_958781.1:p.Ser4454Gly
NM_201380.3:c.13837A>G	NP_958782.1:p.Ser4613Gly
NM_201381.2:c.13330A>G	NP_958783.1:p.Ser4444Gly
NM_201382.3:c.13426A>G	NP_958784.1:p.Ser4476Gly
NM_201383.2:c.13438A>G	NP_958785.1:p.Ser4480Gly
NM_201384.2:c.13426A>G	NP_958786.1:p.Ser4476Gly
XM_005250976.2:c.13852A>G	XP_005251033.1:p.Ser4618Gly
XM_005250978.2:c.13453A>G	XP_005251035.1:p.Ser4485Gly
XM_005250979.3:c.13441A>G	XP_005251036.1:p.Ser4481Gly
XM_005250980.3:c.13441A>G	XP_005251037.1:p.Ser4481Gly
XM_005250981.2:c.13399A>G	XP_005251038.1:p.Ser4467Gly
XM_005250982.2:c.13375A>G	XP_005251039.1:p.Ser4459Gly
XM_005250983.2:c.13357A>G	XP_005251040.1:p.Ser4453Gly
XM_005250984.3:c.13345A>G	XP_005251041.1:p.Ser4449Gly
XM_006716588.2:c.13522A>G	XP_006716651.1:p.Ser4508Gly
XM_006716589.2:c.13372A>G	XP_006716652.1:p.Ser4458Gly
XM_006716590.2:c.13372A>G	XP_006716653.1:p.Ser4458Gly
XM_011517130.1:c.13441A>G	XP_011515432.1:p.Ser4481Gly
XM_011517131.1:c.13357A>G	XP_011515433.1:p.Ser4453Gly
XM_011517132.1:c.10072A>G	XP_011515434.1:p.Ser3358Gly
XM_005250976.4:c.13852A>G	XP_005251033.1:p.Ser4618Gly
XM_005250978.3:c.13453A>G	XP_005251035.1:p.Ser4485Gly
XM_005250979.4:c.13441A>G	XP_005251036.1:p.Ser4481Gly
XM_005250980.4:c.13441A>G	XP_005251037.1:p.Ser4481Gly
XM_005250981.3:c.13399A>G	XP_005251038.1:p.Ser4467Gly
XM_005250982.4:c.13375A>G	XP_005251039.1:p.Ser4459Gly
XM_005250984.5:c.13345A>G	XP_005251041.1:p.Ser4449Gly
XM_006716588.3:c.13522A>G	XP_006716651.1:p.Ser4508Gly
XM_006716590.3:c.13372A>G	XP_006716653.1:p.Ser4458Gly
XM_011517130.2:c.13441A>G	XP_011515432.1:p.Ser4481Gly
XM_011517131.2:c.13357A>G	XP_011515433.1:p.Ser4453Gly
XM_011517132.2:c.10072A>G	XP_011515434.1:p.Ser3358Gly
NM_000445.5:c.13507A>G	NP_000436.2:p.Ser4503Gly
NM_201378.4:c.13384A>G MANE Plus Clinical	NP_958780.1:p.Ser4462Gly
NM_201379.3:c.13360A>G	NP_958781.1:p.Ser4454Gly
NM_201380.4:c.13837A>G	NP_958782.1:p.Ser4613Gly
NM_201381.3:c.13330A>G	NP_958783.1:p.Ser4444Gly
NM_201382.4:c.13426A>G	NP_958784.1:p.Ser4476Gly
NM_201383.3:c.13438A>G	NP_958785.1:p.Ser4480Gly
NM_201384.3:c.13426A>G MANE Select	NP_958786.1:p.Ser4476Gly