Canonical Allele Identifier: CA4923833

Gene: PLEC

Linked Data

• ClinVar Variation Id: 539053
• ClinVar RCV Id: RCV000648685 ; RCV003437371
• dbSNP Id: rs534414054
• ExAC: 8:144990639 C / T
• gnomAD v2: 8-144990639-C-T
• gnomAD v3: 8-143916471-C-T
• gnomAD v4: 8-143916471-C-T
• MyVariant Identifiers: chr8:g.144990639C>T (hg19) ; chr8:g.143916471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916471C>T , CM000670.2:g.143916471C>T	GRCh38
NC_000008.10:g.144990639C>T , CM000670.1:g.144990639C>T	GRCh37
NC_000008.9:g.145062627C>T	NCBI36
NG_012492.1:g.65275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13482G>A	ENSP00000437303.2:p.Leu4494=
ENST00000685198.1:c.13401G>A	ENSP00000510528.1:p.Leu4467=
ENST00000687971.1:c.13068G>A	ENSP00000510788.1:p.Leu4356=
ENST00000693060.1:c.13281G>A	ENSP00000510329.1:p.Leu4427=
ENST00000345136.8:c.13350G>A MANE Select	ENSP00000344848.3:p.Leu4450=
ENST00000527303.2:c.10050G>A	ENSP00000433982.2:p.Leu3350=
ENST00000322810.8:c.13761G>A	ENSP00000323856.4:p.Leu4587=
ENST00000345136.7:c.13350G>A	ENSP00000344848.3:p.Leu4450=
ENST00000354589.7:c.13350G>A	ENSP00000346602.3:p.Leu4450=
ENST00000354958.6:c.13284G>A	ENSP00000347044.2:p.Leu4428=
ENST00000356346.7:c.13308G>A MANE Plus Clinical	ENSP00000348702.3:p.Leu4436=
ENST00000357649.6:c.13362G>A	ENSP00000350277.2:p.Leu4454=
ENST00000398774.6:c.13254G>A	ENSP00000381756.2:p.Leu4418=
ENST00000436759.6:c.13431G>A	ENSP00000388180.2:p.Leu4477=
ENST00000527096.5:c.13419G>A	ENSP00000434583.1:p.Leu4473=
NM_000445.4:c.13431G>A	NP_000436.2:p.Leu4477=
NM_201378.3:c.13308G>A	NP_958780.1:p.Leu4436=
NM_201379.2:c.13284G>A	NP_958781.1:p.Leu4428=
NM_201380.3:c.13761G>A	NP_958782.1:p.Leu4587=
NM_201381.2:c.13254G>A	NP_958783.1:p.Leu4418=
NM_201382.3:c.13350G>A	NP_958784.1:p.Leu4450=
NM_201383.2:c.13362G>A	NP_958785.1:p.Leu4454=
NM_201384.2:c.13350G>A	NP_958786.1:p.Leu4450=
XM_005250976.2:c.13776G>A	XP_005251033.1:p.Leu4592=
XM_005250978.2:c.13377G>A	XP_005251035.1:p.Leu4459=
XM_005250979.3:c.13365G>A	XP_005251036.1:p.Leu4455=
XM_005250980.3:c.13365G>A	XP_005251037.1:p.Leu4455=
XM_005250981.2:c.13323G>A	XP_005251038.1:p.Leu4441=
XM_005250982.2:c.13299G>A	XP_005251039.1:p.Leu4433=
XM_005250983.2:c.13281G>A	XP_005251040.1:p.Leu4427=
XM_005250984.3:c.13269G>A	XP_005251041.1:p.Leu4423=
XM_006716588.2:c.13446G>A	XP_006716651.1:p.Leu4482=
XM_006716589.2:c.13296G>A	XP_006716652.1:p.Leu4432=
XM_006716590.2:c.13296G>A	XP_006716653.1:p.Leu4432=
XM_011517130.1:c.13365G>A	XP_011515432.1:p.Leu4455=
XM_011517131.1:c.13281G>A	XP_011515433.1:p.Leu4427=
XM_011517132.1:c.9996G>A	XP_011515434.1:p.Leu3332=
XM_005250976.4:c.13776G>A	XP_005251033.1:p.Leu4592=
XM_005250978.3:c.13377G>A	XP_005251035.1:p.Leu4459=
XM_005250979.4:c.13365G>A	XP_005251036.1:p.Leu4455=
XM_005250980.4:c.13365G>A	XP_005251037.1:p.Leu4455=
XM_005250981.3:c.13323G>A	XP_005251038.1:p.Leu4441=
XM_005250982.4:c.13299G>A	XP_005251039.1:p.Leu4433=
XM_005250984.5:c.13269G>A	XP_005251041.1:p.Leu4423=
XM_006716588.3:c.13446G>A	XP_006716651.1:p.Leu4482=
XM_006716590.3:c.13296G>A	XP_006716653.1:p.Leu4432=
XM_011517130.2:c.13365G>A	XP_011515432.1:p.Leu4455=
XM_011517131.2:c.13281G>A	XP_011515433.1:p.Leu4427=
XM_011517132.2:c.9996G>A	XP_011515434.1:p.Leu3332=
NM_000445.5:c.13431G>A	NP_000436.2:p.Leu4477=
NM_201378.4:c.13308G>A MANE Plus Clinical	NP_958780.1:p.Leu4436=
NM_201379.3:c.13284G>A	NP_958781.1:p.Leu4428=
NM_201380.4:c.13761G>A	NP_958782.1:p.Leu4587=
NM_201381.3:c.13254G>A	NP_958783.1:p.Leu4418=
NM_201382.4:c.13350G>A	NP_958784.1:p.Leu4450=
NM_201383.3:c.13362G>A	NP_958785.1:p.Leu4454=
NM_201384.3:c.13350G>A MANE Select	NP_958786.1:p.Leu4450=