Canonical Allele Identifier: CA463536663

Gene: PLEC

Linked Data

• ClinVar Variation Id: 497018
• ClinVar RCV Id: RCV000592079 ; RCV000725667 ; RCV003767350
• dbSNP Id: rs1554721745
• MyVariant Identifiers: chr8:g.145009200C>T (hg19) ; chr8:g.143935032C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143935032C>T , CM000670.2:g.143935032C>T	GRCh38
NC_000008.10:g.145009200C>T , CM000670.1:g.145009200C>T	GRCh37
NC_000008.9:g.145081188C>T	NCBI36
NG_012492.1:g.46714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.936G>A	ENSP00000437303.2:p.Val312=
ENST00000685198.1:c.855G>A	ENSP00000510528.1:p.Val285=
ENST00000687971.1:c.522G>A	ENSP00000510788.1:p.Val174=
ENST00000693060.1:c.735G>A	ENSP00000510329.1:p.Val245=
ENST00000345136.8:c.804G>A MANE Select	ENSP00000344848.3:p.Val268=
ENST00000527303.2:c.885G>A	ENSP00000433982.2:p.Val295=
ENST00000322810.8:c.1215G>A	ENSP00000323856.4:p.Val405=
ENST00000345136.7:c.804G>A	ENSP00000344848.3:p.Val268=
ENST00000354589.7:c.804G>A	ENSP00000346602.3:p.Val268=
ENST00000354958.6:c.738G>A	ENSP00000347044.2:p.Val246=
ENST00000356346.7:c.762G>A MANE Plus Clinical	ENSP00000348702.3:p.Val254=
ENST00000357649.6:c.816G>A	ENSP00000350277.2:p.Val272=
ENST00000398774.6:c.708G>A	ENSP00000381756.2:p.Val236=
ENST00000436759.6:c.885G>A	ENSP00000388180.2:p.Val295=
ENST00000527096.5:c.885G>A	ENSP00000434583.1:p.Val295=
ENST00000528025.5:c.936G>A	ENSP00000437303.1:p.Val312=
NM_000445.4:c.885G>A	NP_000436.2:p.Val295=
NM_201378.3:c.762G>A	NP_958780.1:p.Val254=
NM_201379.2:c.738G>A	NP_958781.1:p.Val246=
NM_201380.3:c.1215G>A	NP_958782.1:p.Val405=
NM_201381.2:c.708G>A	NP_958783.1:p.Val236=
NM_201382.3:c.804G>A	NP_958784.1:p.Val268=
NM_201383.2:c.816G>A	NP_958785.1:p.Val272=
NM_201384.2:c.804G>A	NP_958786.1:p.Val268=
XM_005250976.2:c.1230G>A	XP_005251033.1:p.Val410=
XM_005250978.2:c.831G>A	XP_005251035.1:p.Val277=
XM_005250979.3:c.819G>A	XP_005251036.1:p.Val273=
XM_005250980.3:c.819G>A	XP_005251037.1:p.Val273=
XM_005250981.2:c.777G>A	XP_005251038.1:p.Val259=
XM_005250982.2:c.753G>A	XP_005251039.1:p.Val251=
XM_005250983.2:c.735G>A	XP_005251040.1:p.Val245=
XM_005250984.3:c.723G>A	XP_005251041.1:p.Val241=
XM_006716588.2:c.900G>A	XP_006716651.1:p.Val300=
XM_006716589.2:c.750G>A	XP_006716652.1:p.Val250=
XM_006716590.2:c.750G>A	XP_006716653.1:p.Val250=
XM_011517130.1:c.831G>A	XP_011515432.1:p.Val277=
XM_011517131.1:c.735G>A	XP_011515433.1:p.Val245=
XM_011517132.1:c.831G>A	XP_011515434.1:p.Val277=
XM_005250976.4:c.1230G>A	XP_005251033.1:p.Val410=
XM_005250978.3:c.831G>A	XP_005251035.1:p.Val277=
XM_005250979.4:c.819G>A	XP_005251036.1:p.Val273=
XM_005250980.4:c.819G>A	XP_005251037.1:p.Val273=
XM_005250981.3:c.777G>A	XP_005251038.1:p.Val259=
XM_005250982.4:c.753G>A	XP_005251039.1:p.Val251=
XM_005250984.5:c.723G>A	XP_005251041.1:p.Val241=
XM_006716588.3:c.900G>A	XP_006716651.1:p.Val300=
XM_006716590.3:c.750G>A	XP_006716653.1:p.Val250=
XM_011517130.2:c.831G>A	XP_011515432.1:p.Val277=
XM_011517131.2:c.735G>A	XP_011515433.1:p.Val245=
XM_011517132.2:c.831G>A	XP_011515434.1:p.Val277=
NM_000445.5:c.885G>A	NP_000436.2:p.Val295=
NM_201378.4:c.762G>A MANE Plus Clinical	NP_958780.1:p.Val254=
NM_201379.3:c.738G>A	NP_958781.1:p.Val246=
NM_201380.4:c.1215G>A	NP_958782.1:p.Val405=
NM_201381.3:c.708G>A	NP_958783.1:p.Val236=
NM_201382.4:c.804G>A	NP_958784.1:p.Val268=
NM_201383.3:c.816G>A	NP_958785.1:p.Val272=
NM_201384.3:c.804G>A MANE Select	NP_958786.1:p.Val268=