Canonical Allele Identifier: CA372474350

Gene: PLEC

Linked Data

• dbSNP Id: rs1554668850
• gnomAD v2: 8-144990526-C-T
• MyVariant Identifiers: chr8:g.144990526C>T (hg19) ; chr8:g.143916358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916358C>T , CM000670.2:g.143916358C>T	GRCh38
NC_000008.10:g.144990526C>T , CM000670.1:g.144990526C>T	GRCh37
NC_000008.9:g.145062514C>T	NCBI36
NG_012492.1:g.65388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13595G>A	ENSP00000437303.2:p.Gly4532Asp
ENST00000685198.1:c.13514G>A	ENSP00000510528.1:p.Gly4505Asp
ENST00000687971.1:c.13181G>A	ENSP00000510788.1:p.Gly4394Asp
ENST00000693060.1:c.13394G>A	ENSP00000510329.1:p.Gly4465Asp
ENST00000345136.8:c.13463G>A MANE Select	ENSP00000344848.3:p.Gly4488Asp
ENST00000527303.2:c.10163G>A	ENSP00000433982.2:p.Gly3388Asp
ENST00000322810.8:c.13874G>A	ENSP00000323856.4:p.Gly4625Asp
ENST00000345136.7:c.13463G>A	ENSP00000344848.3:p.Gly4488Asp
ENST00000354589.7:c.13463G>A	ENSP00000346602.3:p.Gly4488Asp
ENST00000354958.6:c.13397G>A	ENSP00000347044.2:p.Gly4466Asp
ENST00000356346.7:c.13421G>A MANE Plus Clinical	ENSP00000348702.3:p.Gly4474Asp
ENST00000357649.6:c.13475G>A	ENSP00000350277.2:p.Gly4492Asp
ENST00000398774.6:c.13367G>A	ENSP00000381756.2:p.Gly4456Asp
ENST00000436759.6:c.13544G>A	ENSP00000388180.2:p.Gly4515Asp
ENST00000527096.5:c.13532G>A	ENSP00000434583.1:p.Gly4511Asp
NM_000445.4:c.13544G>A	NP_000436.2:p.Gly4515Asp
NM_201378.3:c.13421G>A	NP_958780.1:p.Gly4474Asp
NM_201379.2:c.13397G>A	NP_958781.1:p.Gly4466Asp
NM_201380.3:c.13874G>A	NP_958782.1:p.Gly4625Asp
NM_201381.2:c.13367G>A	NP_958783.1:p.Gly4456Asp
NM_201382.3:c.13463G>A	NP_958784.1:p.Gly4488Asp
NM_201383.2:c.13475G>A	NP_958785.1:p.Gly4492Asp
NM_201384.2:c.13463G>A	NP_958786.1:p.Gly4488Asp
XM_005250976.2:c.13889G>A	XP_005251033.1:p.Gly4630Asp
XM_005250978.2:c.13490G>A	XP_005251035.1:p.Gly4497Asp
XM_005250979.3:c.13478G>A	XP_005251036.1:p.Gly4493Asp
XM_005250980.3:c.13478G>A	XP_005251037.1:p.Gly4493Asp
XM_005250981.2:c.13436G>A	XP_005251038.1:p.Gly4479Asp
XM_005250982.2:c.13412G>A	XP_005251039.1:p.Gly4471Asp
XM_005250983.2:c.13394G>A	XP_005251040.1:p.Gly4465Asp
XM_005250984.3:c.13382G>A	XP_005251041.1:p.Gly4461Asp
XM_006716588.2:c.13559G>A	XP_006716651.1:p.Gly4520Asp
XM_006716589.2:c.13409G>A	XP_006716652.1:p.Gly4470Asp
XM_006716590.2:c.13409G>A	XP_006716653.1:p.Gly4470Asp
XM_011517130.1:c.13478G>A	XP_011515432.1:p.Gly4493Asp
XM_011517131.1:c.13394G>A	XP_011515433.1:p.Gly4465Asp
XM_011517132.1:c.10109G>A	XP_011515434.1:p.Gly3370Asp
XM_005250976.4:c.13889G>A	XP_005251033.1:p.Gly4630Asp
XM_005250978.3:c.13490G>A	XP_005251035.1:p.Gly4497Asp
XM_005250979.4:c.13478G>A	XP_005251036.1:p.Gly4493Asp
XM_005250980.4:c.13478G>A	XP_005251037.1:p.Gly4493Asp
XM_005250981.3:c.13436G>A	XP_005251038.1:p.Gly4479Asp
XM_005250982.4:c.13412G>A	XP_005251039.1:p.Gly4471Asp
XM_005250984.5:c.13382G>A	XP_005251041.1:p.Gly4461Asp
XM_006716588.3:c.13559G>A	XP_006716651.1:p.Gly4520Asp
XM_006716590.3:c.13409G>A	XP_006716653.1:p.Gly4470Asp
XM_011517130.2:c.13478G>A	XP_011515432.1:p.Gly4493Asp
XM_011517131.2:c.13394G>A	XP_011515433.1:p.Gly4465Asp
XM_011517132.2:c.10109G>A	XP_011515434.1:p.Gly3370Asp
NM_000445.5:c.13544G>A	NP_000436.2:p.Gly4515Asp
NM_201378.4:c.13421G>A MANE Plus Clinical	NP_958780.1:p.Gly4474Asp
NM_201379.3:c.13397G>A	NP_958781.1:p.Gly4466Asp
NM_201380.4:c.13874G>A	NP_958782.1:p.Gly4625Asp
NM_201381.3:c.13367G>A	NP_958783.1:p.Gly4456Asp
NM_201382.4:c.13463G>A	NP_958784.1:p.Gly4488Asp
NM_201383.3:c.13475G>A	NP_958785.1:p.Gly4492Asp
NM_201384.3:c.13463G>A MANE Select	NP_958786.1:p.Gly4488Asp