Canonical Allele Identifier: CA372474152

Gene: PLEC

Linked Data

• ClinVar Variation Id: 2933689
• ClinVar RCV Id: RCV003793247
• gnomAD v4: 8-143916322-C-T
• MyVariant Identifiers: chr8:g.144990490C>T (hg19) ; chr8:g.143916322C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916322C>T , CM000670.2:g.143916322C>T	GRCh38
NC_000008.10:g.144990490C>T , CM000670.1:g.144990490C>T	GRCh37
NC_000008.9:g.145062478C>T	NCBI36
NG_012492.1:g.65424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13631G>A	ENSP00000437303.2:p.Gly4544Asp
ENST00000685198.1:c.13550G>A	ENSP00000510528.1:p.Gly4517Asp
ENST00000687971.1:c.13217G>A	ENSP00000510788.1:p.Gly4406Asp
ENST00000693060.1:c.13430G>A	ENSP00000510329.1:p.Gly4477Asp
ENST00000345136.8:c.13499G>A MANE Select	ENSP00000344848.3:p.Gly4500Asp
ENST00000527303.2:c.10199G>A	ENSP00000433982.2:p.Gly3400Asp
ENST00000322810.8:c.13910G>A	ENSP00000323856.4:p.Gly4637Asp
ENST00000345136.7:c.13499G>A	ENSP00000344848.3:p.Gly4500Asp
ENST00000354589.7:c.13499G>A	ENSP00000346602.3:p.Gly4500Asp
ENST00000354958.6:c.13433G>A	ENSP00000347044.2:p.Gly4478Asp
ENST00000356346.7:c.13457G>A MANE Plus Clinical	ENSP00000348702.3:p.Gly4486Asp
ENST00000357649.6:c.13511G>A	ENSP00000350277.2:p.Gly4504Asp
ENST00000398774.6:c.13403G>A	ENSP00000381756.2:p.Gly4468Asp
ENST00000436759.6:c.13580G>A	ENSP00000388180.2:p.Gly4527Asp
ENST00000527096.5:c.13568G>A	ENSP00000434583.1:p.Gly4523Asp
NM_000445.4:c.13580G>A	NP_000436.2:p.Gly4527Asp
NM_201378.3:c.13457G>A	NP_958780.1:p.Gly4486Asp
NM_201379.2:c.13433G>A	NP_958781.1:p.Gly4478Asp
NM_201380.3:c.13910G>A	NP_958782.1:p.Gly4637Asp
NM_201381.2:c.13403G>A	NP_958783.1:p.Gly4468Asp
NM_201382.3:c.13499G>A	NP_958784.1:p.Gly4500Asp
NM_201383.2:c.13511G>A	NP_958785.1:p.Gly4504Asp
NM_201384.2:c.13499G>A	NP_958786.1:p.Gly4500Asp
XM_005250976.2:c.13925G>A	XP_005251033.1:p.Gly4642Asp
XM_005250978.2:c.13526G>A	XP_005251035.1:p.Gly4509Asp
XM_005250979.3:c.13514G>A	XP_005251036.1:p.Gly4505Asp
XM_005250980.3:c.13514G>A	XP_005251037.1:p.Gly4505Asp
XM_005250981.2:c.13472G>A	XP_005251038.1:p.Gly4491Asp
XM_005250982.2:c.13448G>A	XP_005251039.1:p.Gly4483Asp
XM_005250983.2:c.13430G>A	XP_005251040.1:p.Gly4477Asp
XM_005250984.3:c.13418G>A	XP_005251041.1:p.Gly4473Asp
XM_006716588.2:c.13595G>A	XP_006716651.1:p.Gly4532Asp
XM_006716589.2:c.13445G>A	XP_006716652.1:p.Gly4482Asp
XM_006716590.2:c.13445G>A	XP_006716653.1:p.Gly4482Asp
XM_011517130.1:c.13514G>A	XP_011515432.1:p.Gly4505Asp
XM_011517131.1:c.13430G>A	XP_011515433.1:p.Gly4477Asp
XM_011517132.1:c.10145G>A	XP_011515434.1:p.Gly3382Asp
XM_005250976.4:c.13925G>A	XP_005251033.1:p.Gly4642Asp
XM_005250978.3:c.13526G>A	XP_005251035.1:p.Gly4509Asp
XM_005250979.4:c.13514G>A	XP_005251036.1:p.Gly4505Asp
XM_005250980.4:c.13514G>A	XP_005251037.1:p.Gly4505Asp
XM_005250981.3:c.13472G>A	XP_005251038.1:p.Gly4491Asp
XM_005250982.4:c.13448G>A	XP_005251039.1:p.Gly4483Asp
XM_005250984.5:c.13418G>A	XP_005251041.1:p.Gly4473Asp
XM_006716588.3:c.13595G>A	XP_006716651.1:p.Gly4532Asp
XM_006716590.3:c.13445G>A	XP_006716653.1:p.Gly4482Asp
XM_011517130.2:c.13514G>A	XP_011515432.1:p.Gly4505Asp
XM_011517131.2:c.13430G>A	XP_011515433.1:p.Gly4477Asp
XM_011517132.2:c.10145G>A	XP_011515434.1:p.Gly3382Asp
NM_000445.5:c.13580G>A	NP_000436.2:p.Gly4527Asp
NM_201378.4:c.13457G>A MANE Plus Clinical	NP_958780.1:p.Gly4486Asp
NM_201379.3:c.13433G>A	NP_958781.1:p.Gly4478Asp
NM_201380.4:c.13910G>A	NP_958782.1:p.Gly4637Asp
NM_201381.3:c.13403G>A	NP_958783.1:p.Gly4468Asp
NM_201382.4:c.13499G>A	NP_958784.1:p.Gly4500Asp
NM_201383.3:c.13511G>A	NP_958785.1:p.Gly4504Asp
NM_201384.3:c.13499G>A MANE Select	NP_958786.1:p.Gly4500Asp