Canonical Allele Identifier: CA463536822

Gene: PLEC

Linked Data

• ClinVar Variation Id: 497859
• ClinVar RCV Id: RCV000598151 ; RCV001444100
• dbSNP Id: rs1554722232
• gnomAD v4: 8-143935289-C-T
• MyVariant Identifiers: chr8:g.145009457C>T (hg19) ; chr8:g.143935289C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143935289C>T , CM000670.2:g.143935289C>T	GRCh38
NC_000008.10:g.145009457C>T , CM000670.1:g.145009457C>T	GRCh37
NC_000008.9:g.145081445C>T	NCBI36
NG_012492.1:g.46457G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.759G>A	ENSP00000437303.2:p.Lys253=
ENST00000685198.1:c.678G>A	ENSP00000510528.1:p.Lys226=
ENST00000687971.1:c.345G>A	ENSP00000510788.1:p.Lys115=
ENST00000693060.1:c.558G>A	ENSP00000510329.1:p.Lys186=
ENST00000345136.8:c.627G>A MANE Select	ENSP00000344848.3:p.Lys209=
ENST00000527303.2:c.708G>A	ENSP00000433982.2:p.Lys236=
ENST00000322810.8:c.1038G>A	ENSP00000323856.4:p.Lys346=
ENST00000345136.7:c.627G>A	ENSP00000344848.3:p.Lys209=
ENST00000354589.7:c.627G>A	ENSP00000346602.3:p.Lys209=
ENST00000354958.6:c.561G>A	ENSP00000347044.2:p.Lys187=
ENST00000356346.7:c.585G>A MANE Plus Clinical	ENSP00000348702.3:p.Lys195=
ENST00000357649.6:c.639G>A	ENSP00000350277.2:p.Lys213=
ENST00000398774.6:c.531G>A	ENSP00000381756.2:p.Lys177=
ENST00000436759.6:c.708G>A	ENSP00000388180.2:p.Lys236=
ENST00000526416.5:c.558G>A	ENSP00000433557.1:p.Lys186=
ENST00000527096.5:c.708G>A	ENSP00000434583.1:p.Lys236=
ENST00000528025.5:c.759G>A	ENSP00000437303.1:p.Lys253=
NM_000445.4:c.708G>A	NP_000436.2:p.Lys236=
NM_201378.3:c.585G>A	NP_958780.1:p.Lys195=
NM_201379.2:c.561G>A	NP_958781.1:p.Lys187=
NM_201380.3:c.1038G>A	NP_958782.1:p.Lys346=
NM_201381.2:c.531G>A	NP_958783.1:p.Lys177=
NM_201382.3:c.627G>A	NP_958784.1:p.Lys209=
NM_201383.2:c.639G>A	NP_958785.1:p.Lys213=
NM_201384.2:c.627G>A	NP_958786.1:p.Lys209=
XM_005250976.2:c.1053G>A	XP_005251033.1:p.Lys351=
XM_005250978.2:c.654G>A	XP_005251035.1:p.Lys218=
XM_005250979.3:c.642G>A	XP_005251036.1:p.Lys214=
XM_005250980.3:c.642G>A	XP_005251037.1:p.Lys214=
XM_005250981.2:c.600G>A	XP_005251038.1:p.Lys200=
XM_005250982.2:c.576G>A	XP_005251039.1:p.Lys192=
XM_005250983.2:c.558G>A	XP_005251040.1:p.Lys186=
XM_005250984.3:c.546G>A	XP_005251041.1:p.Lys182=
XM_006716588.2:c.723G>A	XP_006716651.1:p.Lys241=
XM_006716589.2:c.573G>A	XP_006716652.1:p.Lys191=
XM_006716590.2:c.573G>A	XP_006716653.1:p.Lys191=
XM_011517130.1:c.654G>A	XP_011515432.1:p.Lys218=
XM_011517131.1:c.558G>A	XP_011515433.1:p.Lys186=
XM_011517132.1:c.654G>A	XP_011515434.1:p.Lys218=
XM_005250976.4:c.1053G>A	XP_005251033.1:p.Lys351=
XM_005250978.3:c.654G>A	XP_005251035.1:p.Lys218=
XM_005250979.4:c.642G>A	XP_005251036.1:p.Lys214=
XM_005250980.4:c.642G>A	XP_005251037.1:p.Lys214=
XM_005250981.3:c.600G>A	XP_005251038.1:p.Lys200=
XM_005250982.4:c.576G>A	XP_005251039.1:p.Lys192=
XM_005250984.5:c.546G>A	XP_005251041.1:p.Lys182=
XM_006716588.3:c.723G>A	XP_006716651.1:p.Lys241=
XM_006716590.3:c.573G>A	XP_006716653.1:p.Lys191=
XM_011517130.2:c.654G>A	XP_011515432.1:p.Lys218=
XM_011517131.2:c.558G>A	XP_011515433.1:p.Lys186=
XM_011517132.2:c.654G>A	XP_011515434.1:p.Lys218=
NM_000445.5:c.708G>A	NP_000436.2:p.Lys236=
NM_201378.4:c.585G>A MANE Plus Clinical	NP_958780.1:p.Lys195=
NM_201379.3:c.561G>A	NP_958781.1:p.Lys187=
NM_201380.4:c.1038G>A	NP_958782.1:p.Lys346=
NM_201381.3:c.531G>A	NP_958783.1:p.Lys177=
NM_201382.4:c.627G>A	NP_958784.1:p.Lys209=
NM_201383.3:c.639G>A	NP_958785.1:p.Lys213=
NM_201384.3:c.627G>A MANE Select	NP_958786.1:p.Lys209=