Canonical Allele Identifier: CA4923780

Gene: PLEC

Linked Data

• ClinVar Variation Id: 649193
• ClinVar RCV Id: RCV000804070
• dbSNP Id: rs781892954
• ExAC: 8:144990493 G / A
• gnomAD v2: 8-144990493-G-A
• gnomAD v3: 8-143916325-G-A
• gnomAD v4: 8-143916325-G-A
• MyVariant Identifiers: chr8:g.144990493G>A (hg19) ; chr8:g.143916325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916325G>A , CM000670.2:g.143916325G>A	GRCh38
NC_000008.10:g.144990493G>A , CM000670.1:g.144990493G>A	GRCh37
NC_000008.9:g.145062481G>A	NCBI36
NG_012492.1:g.65421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13628C>T	ENSP00000437303.2:p.Ala4543Val
ENST00000685198.1:c.13547C>T	ENSP00000510528.1:p.Ala4516Val
ENST00000687971.1:c.13214C>T	ENSP00000510788.1:p.Ala4405Val
ENST00000693060.1:c.13427C>T	ENSP00000510329.1:p.Ala4476Val
ENST00000345136.8:c.13496C>T MANE Select	ENSP00000344848.3:p.Ala4499Val
ENST00000527303.2:c.10196C>T	ENSP00000433982.2:p.Ala3399Val
ENST00000322810.8:c.13907C>T	ENSP00000323856.4:p.Ala4636Val
ENST00000345136.7:c.13496C>T	ENSP00000344848.3:p.Ala4499Val
ENST00000354589.7:c.13496C>T	ENSP00000346602.3:p.Ala4499Val
ENST00000354958.6:c.13430C>T	ENSP00000347044.2:p.Ala4477Val
ENST00000356346.7:c.13454C>T MANE Plus Clinical	ENSP00000348702.3:p.Ala4485Val
ENST00000357649.6:c.13508C>T	ENSP00000350277.2:p.Ala4503Val
ENST00000398774.6:c.13400C>T	ENSP00000381756.2:p.Ala4467Val
ENST00000436759.6:c.13577C>T	ENSP00000388180.2:p.Ala4526Val
ENST00000527096.5:c.13565C>T	ENSP00000434583.1:p.Ala4522Val
NM_000445.4:c.13577C>T	NP_000436.2:p.Ala4526Val
NM_201378.3:c.13454C>T	NP_958780.1:p.Ala4485Val
NM_201379.2:c.13430C>T	NP_958781.1:p.Ala4477Val
NM_201380.3:c.13907C>T	NP_958782.1:p.Ala4636Val
NM_201381.2:c.13400C>T	NP_958783.1:p.Ala4467Val
NM_201382.3:c.13496C>T	NP_958784.1:p.Ala4499Val
NM_201383.2:c.13508C>T	NP_958785.1:p.Ala4503Val
NM_201384.2:c.13496C>T	NP_958786.1:p.Ala4499Val
XM_005250976.2:c.13922C>T	XP_005251033.1:p.Ala4641Val
XM_005250978.2:c.13523C>T	XP_005251035.1:p.Ala4508Val
XM_005250979.3:c.13511C>T	XP_005251036.1:p.Ala4504Val
XM_005250980.3:c.13511C>T	XP_005251037.1:p.Ala4504Val
XM_005250981.2:c.13469C>T	XP_005251038.1:p.Ala4490Val
XM_005250982.2:c.13445C>T	XP_005251039.1:p.Ala4482Val
XM_005250983.2:c.13427C>T	XP_005251040.1:p.Ala4476Val
XM_005250984.3:c.13415C>T	XP_005251041.1:p.Ala4472Val
XM_006716588.2:c.13592C>T	XP_006716651.1:p.Ala4531Val
XM_006716589.2:c.13442C>T	XP_006716652.1:p.Ala4481Val
XM_006716590.2:c.13442C>T	XP_006716653.1:p.Ala4481Val
XM_011517130.1:c.13511C>T	XP_011515432.1:p.Ala4504Val
XM_011517131.1:c.13427C>T	XP_011515433.1:p.Ala4476Val
XM_011517132.1:c.10142C>T	XP_011515434.1:p.Ala3381Val
XM_005250976.4:c.13922C>T	XP_005251033.1:p.Ala4641Val
XM_005250978.3:c.13523C>T	XP_005251035.1:p.Ala4508Val
XM_005250979.4:c.13511C>T	XP_005251036.1:p.Ala4504Val
XM_005250980.4:c.13511C>T	XP_005251037.1:p.Ala4504Val
XM_005250981.3:c.13469C>T	XP_005251038.1:p.Ala4490Val
XM_005250982.4:c.13445C>T	XP_005251039.1:p.Ala4482Val
XM_005250984.5:c.13415C>T	XP_005251041.1:p.Ala4472Val
XM_006716588.3:c.13592C>T	XP_006716651.1:p.Ala4531Val
XM_006716590.3:c.13442C>T	XP_006716653.1:p.Ala4481Val
XM_011517130.2:c.13511C>T	XP_011515432.1:p.Ala4504Val
XM_011517131.2:c.13427C>T	XP_011515433.1:p.Ala4476Val
XM_011517132.2:c.10142C>T	XP_011515434.1:p.Ala3381Val
NM_000445.5:c.13577C>T	NP_000436.2:p.Ala4526Val
NM_201378.4:c.13454C>T MANE Plus Clinical	NP_958780.1:p.Ala4485Val
NM_201379.3:c.13430C>T	NP_958781.1:p.Ala4477Val
NM_201380.4:c.13907C>T	NP_958782.1:p.Ala4636Val
NM_201381.3:c.13400C>T	NP_958783.1:p.Ala4467Val
NM_201382.4:c.13496C>T	NP_958784.1:p.Ala4499Val
NM_201383.3:c.13508C>T	NP_958785.1:p.Ala4503Val
NM_201384.3:c.13496C>T MANE Select	NP_958786.1:p.Ala4499Val