Canonical Allele Identifier: CA202596

Gene: PLEC

Linked Data

• ClinVar Variation Id: 196810
• ClinVar RCV Id: RCV000177679 ; RCV000877106 ; RCV001087406 ; RCV004539655
• dbSNP Id: rs549882307
• ExAC: 8:144990414 C / T
• gnomAD v2: 8-144990414-C-T
• gnomAD v3: 8-143916246-C-T
• gnomAD v4: 8-143916246-C-T
• MyVariant Identifiers: chr8:g.144990414C>T (hg19) ; chr8:g.143916246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916246C>T , CM000670.2:g.143916246C>T	GRCh38
NC_000008.10:g.144990414C>T , CM000670.1:g.144990414C>T	GRCh37
NC_000008.9:g.145062402C>T	NCBI36
NG_012492.1:g.65500G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13707G>A	ENSP00000437303.2:p.Ser4569=
ENST00000685198.1:c.13626G>A	ENSP00000510528.1:p.Ser4542=
ENST00000687971.1:c.13293G>A	ENSP00000510788.1:p.Ser4431=
ENST00000693060.1:c.13506G>A	ENSP00000510329.1:p.Ser4502=
ENST00000345136.8:c.13575G>A MANE Select	ENSP00000344848.3:p.Ser4525=
ENST00000527303.2:c.10275G>A	ENSP00000433982.2:p.Ser3425=
ENST00000322810.8:c.13986G>A	ENSP00000323856.4:p.Ser4662=
ENST00000345136.7:c.13575G>A	ENSP00000344848.3:p.Ser4525=
ENST00000354589.7:c.13575G>A	ENSP00000346602.3:p.Ser4525=
ENST00000354958.6:c.13509G>A	ENSP00000347044.2:p.Ser4503=
ENST00000356346.7:c.13533G>A MANE Plus Clinical	ENSP00000348702.3:p.Ser4511=
ENST00000357649.6:c.13587G>A	ENSP00000350277.2:p.Ser4529=
ENST00000398774.6:c.13479G>A	ENSP00000381756.2:p.Ser4493=
ENST00000436759.6:c.13656G>A	ENSP00000388180.2:p.Ser4552=
ENST00000527096.5:c.13644G>A	ENSP00000434583.1:p.Ser4548=
NM_000445.4:c.13656G>A	NP_000436.2:p.Ser4552=
NM_201378.3:c.13533G>A	NP_958780.1:p.Ser4511=
NM_201379.2:c.13509G>A	NP_958781.1:p.Ser4503=
NM_201380.3:c.13986G>A	NP_958782.1:p.Ser4662=
NM_201381.2:c.13479G>A	NP_958783.1:p.Ser4493=
NM_201382.3:c.13575G>A	NP_958784.1:p.Ser4525=
NM_201383.2:c.13587G>A	NP_958785.1:p.Ser4529=
NM_201384.2:c.13575G>A	NP_958786.1:p.Ser4525=
XM_005250976.2:c.14001G>A	XP_005251033.1:p.Ser4667=
XM_005250978.2:c.13602G>A	XP_005251035.1:p.Ser4534=
XM_005250979.3:c.13590G>A	XP_005251036.1:p.Ser4530=
XM_005250980.3:c.13590G>A	XP_005251037.1:p.Ser4530=
XM_005250981.2:c.13548G>A	XP_005251038.1:p.Ser4516=
XM_005250982.2:c.13524G>A	XP_005251039.1:p.Ser4508=
XM_005250983.2:c.13506G>A	XP_005251040.1:p.Ser4502=
XM_005250984.3:c.13494G>A	XP_005251041.1:p.Ser4498=
XM_006716588.2:c.13671G>A	XP_006716651.1:p.Ser4557=
XM_006716589.2:c.13521G>A	XP_006716652.1:p.Ser4507=
XM_006716590.2:c.13521G>A	XP_006716653.1:p.Ser4507=
XM_011517130.1:c.13590G>A	XP_011515432.1:p.Ser4530=
XM_011517131.1:c.13506G>A	XP_011515433.1:p.Ser4502=
XM_011517132.1:c.10221G>A	XP_011515434.1:p.Ser3407=
XM_005250976.4:c.14001G>A	XP_005251033.1:p.Ser4667=
XM_005250978.3:c.13602G>A	XP_005251035.1:p.Ser4534=
XM_005250979.4:c.13590G>A	XP_005251036.1:p.Ser4530=
XM_005250980.4:c.13590G>A	XP_005251037.1:p.Ser4530=
XM_005250981.3:c.13548G>A	XP_005251038.1:p.Ser4516=
XM_005250982.4:c.13524G>A	XP_005251039.1:p.Ser4508=
XM_005250984.5:c.13494G>A	XP_005251041.1:p.Ser4498=
XM_006716588.3:c.13671G>A	XP_006716651.1:p.Ser4557=
XM_006716590.3:c.13521G>A	XP_006716653.1:p.Ser4507=
XM_011517130.2:c.13590G>A	XP_011515432.1:p.Ser4530=
XM_011517131.2:c.13506G>A	XP_011515433.1:p.Ser4502=
XM_011517132.2:c.10221G>A	XP_011515434.1:p.Ser3407=
NM_000445.5:c.13656G>A	NP_000436.2:p.Ser4552=
NM_201378.4:c.13533G>A MANE Plus Clinical	NP_958780.1:p.Ser4511=
NM_201379.3:c.13509G>A	NP_958781.1:p.Ser4503=
NM_201380.4:c.13986G>A	NP_958782.1:p.Ser4662=
NM_201381.3:c.13479G>A	NP_958783.1:p.Ser4493=
NM_201382.4:c.13575G>A	NP_958784.1:p.Ser4525=
NM_201383.3:c.13587G>A	NP_958785.1:p.Ser4529=
NM_201384.3:c.13575G>A MANE Select	NP_958786.1:p.Ser4525=