Canonical Allele Identifier: CA4923831

Gene: PLEC

Linked Data

• ClinVar Variation Id: 2046267
• ClinVar RCV Id: RCV002913572 ; RCV003134531
• dbSNP Id: rs782264132
• ExAC: 8:144990634 C / T
• gnomAD v2: 8-144990634-C-T
• gnomAD v3: 8-143916466-C-T
• gnomAD v4: 8-143916466-C-T
• COSMIC: COSM1221075 ; COSM1221076 ; COSM1221077
• MyVariant Identifiers: chr8:g.144990634C>T (hg19) ; chr8:g.143916466C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916466C>T , CM000670.2:g.143916466C>T	GRCh38
NC_000008.10:g.144990634C>T , CM000670.1:g.144990634C>T	GRCh37
NC_000008.9:g.145062622C>T	NCBI36
NG_012492.1:g.65280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13487G>A	ENSP00000437303.2:p.Arg4496His
ENST00000685198.1:c.13406G>A	ENSP00000510528.1:p.Arg4469His
ENST00000687971.1:c.13073G>A	ENSP00000510788.1:p.Arg4358His
ENST00000693060.1:c.13286G>A	ENSP00000510329.1:p.Arg4429His
ENST00000345136.8:c.13355G>A MANE Select	ENSP00000344848.3:p.Arg4452His
ENST00000527303.2:c.10055G>A	ENSP00000433982.2:p.Arg3352His
ENST00000322810.8:c.13766G>A	ENSP00000323856.4:p.Arg4589His
ENST00000345136.7:c.13355G>A	ENSP00000344848.3:p.Arg4452His
ENST00000354589.7:c.13355G>A	ENSP00000346602.3:p.Arg4452His
ENST00000354958.6:c.13289G>A	ENSP00000347044.2:p.Arg4430His
ENST00000356346.7:c.13313G>A MANE Plus Clinical	ENSP00000348702.3:p.Arg4438His
ENST00000357649.6:c.13367G>A	ENSP00000350277.2:p.Arg4456His
ENST00000398774.6:c.13259G>A	ENSP00000381756.2:p.Arg4420His
ENST00000436759.6:c.13436G>A	ENSP00000388180.2:p.Arg4479His
ENST00000527096.5:c.13424G>A	ENSP00000434583.1:p.Arg4475His
NM_000445.4:c.13436G>A	NP_000436.2:p.Arg4479His
NM_201378.3:c.13313G>A	NP_958780.1:p.Arg4438His
NM_201379.2:c.13289G>A	NP_958781.1:p.Arg4430His
NM_201380.3:c.13766G>A	NP_958782.1:p.Arg4589His
NM_201381.2:c.13259G>A	NP_958783.1:p.Arg4420His
NM_201382.3:c.13355G>A	NP_958784.1:p.Arg4452His
NM_201383.2:c.13367G>A	NP_958785.1:p.Arg4456His
NM_201384.2:c.13355G>A	NP_958786.1:p.Arg4452His
XM_005250976.2:c.13781G>A	XP_005251033.1:p.Arg4594His
XM_005250978.2:c.13382G>A	XP_005251035.1:p.Arg4461His
XM_005250979.3:c.13370G>A	XP_005251036.1:p.Arg4457His
XM_005250980.3:c.13370G>A	XP_005251037.1:p.Arg4457His
XM_005250981.2:c.13328G>A	XP_005251038.1:p.Arg4443His
XM_005250982.2:c.13304G>A	XP_005251039.1:p.Arg4435His
XM_005250983.2:c.13286G>A	XP_005251040.1:p.Arg4429His
XM_005250984.3:c.13274G>A	XP_005251041.1:p.Arg4425His
XM_006716588.2:c.13451G>A	XP_006716651.1:p.Arg4484His
XM_006716589.2:c.13301G>A	XP_006716652.1:p.Arg4434His
XM_006716590.2:c.13301G>A	XP_006716653.1:p.Arg4434His
XM_011517130.1:c.13370G>A	XP_011515432.1:p.Arg4457His
XM_011517131.1:c.13286G>A	XP_011515433.1:p.Arg4429His
XM_011517132.1:c.10001G>A	XP_011515434.1:p.Arg3334His
XM_005250976.4:c.13781G>A	XP_005251033.1:p.Arg4594His
XM_005250978.3:c.13382G>A	XP_005251035.1:p.Arg4461His
XM_005250979.4:c.13370G>A	XP_005251036.1:p.Arg4457His
XM_005250980.4:c.13370G>A	XP_005251037.1:p.Arg4457His
XM_005250981.3:c.13328G>A	XP_005251038.1:p.Arg4443His
XM_005250982.4:c.13304G>A	XP_005251039.1:p.Arg4435His
XM_005250984.5:c.13274G>A	XP_005251041.1:p.Arg4425His
XM_006716588.3:c.13451G>A	XP_006716651.1:p.Arg4484His
XM_006716590.3:c.13301G>A	XP_006716653.1:p.Arg4434His
XM_011517130.2:c.13370G>A	XP_011515432.1:p.Arg4457His
XM_011517131.2:c.13286G>A	XP_011515433.1:p.Arg4429His
XM_011517132.2:c.10001G>A	XP_011515434.1:p.Arg3334His
NM_000445.5:c.13436G>A	NP_000436.2:p.Arg4479His
NM_201378.4:c.13313G>A MANE Plus Clinical	NP_958780.1:p.Arg4438His
NM_201379.3:c.13289G>A	NP_958781.1:p.Arg4430His
NM_201380.4:c.13766G>A	NP_958782.1:p.Arg4589His
NM_201381.3:c.13259G>A	NP_958783.1:p.Arg4420His
NM_201382.4:c.13355G>A	NP_958784.1:p.Arg4452His
NM_201383.3:c.13367G>A	NP_958785.1:p.Arg4456His
NM_201384.3:c.13355G>A MANE Select	NP_958786.1:p.Arg4452His