Canonical Allele Identifier: CA4923807

Gene: PLEC

Linked Data

• ClinVar Variation Id: 471543
• ClinVar RCV Id: RCV000538276 ; RCV001755869 ; RCV002248776
• dbSNP Id: rs373807877
• ExAC: 8:144990545 C / T
• gnomAD v2: 8-144990545-C-T
• gnomAD v3: 8-143916377-C-T
• gnomAD v4: 8-143916377-C-T
• MyVariant Identifiers: chr8:g.144990545C>T (hg19) ; chr8:g.143916377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916377C>T , CM000670.2:g.143916377C>T	GRCh38
NC_000008.10:g.144990545C>T , CM000670.1:g.144990545C>T	GRCh37
NC_000008.9:g.145062533C>T	NCBI36
NG_012492.1:g.65369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13576G>A	ENSP00000437303.2:p.Gly4526Ser
ENST00000685198.1:c.13495G>A	ENSP00000510528.1:p.Gly4499Ser
ENST00000687971.1:c.13162G>A	ENSP00000510788.1:p.Gly4388Ser
ENST00000693060.1:c.13375G>A	ENSP00000510329.1:p.Gly4459Ser
ENST00000345136.8:c.13444G>A MANE Select	ENSP00000344848.3:p.Gly4482Ser
ENST00000527303.2:c.10144G>A	ENSP00000433982.2:p.Gly3382Ser
ENST00000322810.8:c.13855G>A	ENSP00000323856.4:p.Gly4619Ser
ENST00000345136.7:c.13444G>A	ENSP00000344848.3:p.Gly4482Ser
ENST00000354589.7:c.13444G>A	ENSP00000346602.3:p.Gly4482Ser
ENST00000354958.6:c.13378G>A	ENSP00000347044.2:p.Gly4460Ser
ENST00000356346.7:c.13402G>A MANE Plus Clinical	ENSP00000348702.3:p.Gly4468Ser
ENST00000357649.6:c.13456G>A	ENSP00000350277.2:p.Gly4486Ser
ENST00000398774.6:c.13348G>A	ENSP00000381756.2:p.Gly4450Ser
ENST00000436759.6:c.13525G>A	ENSP00000388180.2:p.Gly4509Ser
ENST00000527096.5:c.13513G>A	ENSP00000434583.1:p.Gly4505Ser
NM_000445.4:c.13525G>A	NP_000436.2:p.Gly4509Ser
NM_201378.3:c.13402G>A	NP_958780.1:p.Gly4468Ser
NM_201379.2:c.13378G>A	NP_958781.1:p.Gly4460Ser
NM_201380.3:c.13855G>A	NP_958782.1:p.Gly4619Ser
NM_201381.2:c.13348G>A	NP_958783.1:p.Gly4450Ser
NM_201382.3:c.13444G>A	NP_958784.1:p.Gly4482Ser
NM_201383.2:c.13456G>A	NP_958785.1:p.Gly4486Ser
NM_201384.2:c.13444G>A	NP_958786.1:p.Gly4482Ser
XM_005250976.2:c.13870G>A	XP_005251033.1:p.Gly4624Ser
XM_005250978.2:c.13471G>A	XP_005251035.1:p.Gly4491Ser
XM_005250979.3:c.13459G>A	XP_005251036.1:p.Gly4487Ser
XM_005250980.3:c.13459G>A	XP_005251037.1:p.Gly4487Ser
XM_005250981.2:c.13417G>A	XP_005251038.1:p.Gly4473Ser
XM_005250982.2:c.13393G>A	XP_005251039.1:p.Gly4465Ser
XM_005250983.2:c.13375G>A	XP_005251040.1:p.Gly4459Ser
XM_005250984.3:c.13363G>A	XP_005251041.1:p.Gly4455Ser
XM_006716588.2:c.13540G>A	XP_006716651.1:p.Gly4514Ser
XM_006716589.2:c.13390G>A	XP_006716652.1:p.Gly4464Ser
XM_006716590.2:c.13390G>A	XP_006716653.1:p.Gly4464Ser
XM_011517130.1:c.13459G>A	XP_011515432.1:p.Gly4487Ser
XM_011517131.1:c.13375G>A	XP_011515433.1:p.Gly4459Ser
XM_011517132.1:c.10090G>A	XP_011515434.1:p.Gly3364Ser
XM_005250976.4:c.13870G>A	XP_005251033.1:p.Gly4624Ser
XM_005250978.3:c.13471G>A	XP_005251035.1:p.Gly4491Ser
XM_005250979.4:c.13459G>A	XP_005251036.1:p.Gly4487Ser
XM_005250980.4:c.13459G>A	XP_005251037.1:p.Gly4487Ser
XM_005250981.3:c.13417G>A	XP_005251038.1:p.Gly4473Ser
XM_005250982.4:c.13393G>A	XP_005251039.1:p.Gly4465Ser
XM_005250984.5:c.13363G>A	XP_005251041.1:p.Gly4455Ser
XM_006716588.3:c.13540G>A	XP_006716651.1:p.Gly4514Ser
XM_006716590.3:c.13390G>A	XP_006716653.1:p.Gly4464Ser
XM_011517130.2:c.13459G>A	XP_011515432.1:p.Gly4487Ser
XM_011517131.2:c.13375G>A	XP_011515433.1:p.Gly4459Ser
XM_011517132.2:c.10090G>A	XP_011515434.1:p.Gly3364Ser
NM_000445.5:c.13525G>A	NP_000436.2:p.Gly4509Ser
NM_201378.4:c.13402G>A MANE Plus Clinical	NP_958780.1:p.Gly4468Ser
NM_201379.3:c.13378G>A	NP_958781.1:p.Gly4460Ser
NM_201380.4:c.13855G>A	NP_958782.1:p.Gly4619Ser
NM_201381.3:c.13348G>A	NP_958783.1:p.Gly4450Ser
NM_201382.4:c.13444G>A	NP_958784.1:p.Gly4482Ser
NM_201383.3:c.13456G>A	NP_958785.1:p.Gly4486Ser
NM_201384.3:c.13444G>A MANE Select	NP_958786.1:p.Gly4482Ser