Canonical Allele Identifier: CA372474699

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990611C>G (hg19) ; chr8:g.143916443C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916443C>G , CM000670.2:g.143916443C>G	GRCh38
NC_000008.10:g.144990611C>G , CM000670.1:g.144990611C>G	GRCh37
NC_000008.9:g.145062599C>G	NCBI36
NG_012492.1:g.65303G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13510G>C	ENSP00000437303.2:p.Gly4504Arg
ENST00000685198.1:c.13429G>C	ENSP00000510528.1:p.Gly4477Arg
ENST00000687971.1:c.13096G>C	ENSP00000510788.1:p.Gly4366Arg
ENST00000693060.1:c.13309G>C	ENSP00000510329.1:p.Gly4437Arg
ENST00000345136.8:c.13378G>C MANE Select	ENSP00000344848.3:p.Gly4460Arg
ENST00000527303.2:c.10078G>C	ENSP00000433982.2:p.Gly3360Arg
ENST00000322810.8:c.13789G>C	ENSP00000323856.4:p.Gly4597Arg
ENST00000345136.7:c.13378G>C	ENSP00000344848.3:p.Gly4460Arg
ENST00000354589.7:c.13378G>C	ENSP00000346602.3:p.Gly4460Arg
ENST00000354958.6:c.13312G>C	ENSP00000347044.2:p.Gly4438Arg
ENST00000356346.7:c.13336G>C MANE Plus Clinical	ENSP00000348702.3:p.Gly4446Arg
ENST00000357649.6:c.13390G>C	ENSP00000350277.2:p.Gly4464Arg
ENST00000398774.6:c.13282G>C	ENSP00000381756.2:p.Gly4428Arg
ENST00000436759.6:c.13459G>C	ENSP00000388180.2:p.Gly4487Arg
ENST00000527096.5:c.13447G>C	ENSP00000434583.1:p.Gly4483Arg
NM_000445.4:c.13459G>C	NP_000436.2:p.Gly4487Arg
NM_201378.3:c.13336G>C	NP_958780.1:p.Gly4446Arg
NM_201379.2:c.13312G>C	NP_958781.1:p.Gly4438Arg
NM_201380.3:c.13789G>C	NP_958782.1:p.Gly4597Arg
NM_201381.2:c.13282G>C	NP_958783.1:p.Gly4428Arg
NM_201382.3:c.13378G>C	NP_958784.1:p.Gly4460Arg
NM_201383.2:c.13390G>C	NP_958785.1:p.Gly4464Arg
NM_201384.2:c.13378G>C	NP_958786.1:p.Gly4460Arg
XM_005250976.2:c.13804G>C	XP_005251033.1:p.Gly4602Arg
XM_005250978.2:c.13405G>C	XP_005251035.1:p.Gly4469Arg
XM_005250979.3:c.13393G>C	XP_005251036.1:p.Gly4465Arg
XM_005250980.3:c.13393G>C	XP_005251037.1:p.Gly4465Arg
XM_005250981.2:c.13351G>C	XP_005251038.1:p.Gly4451Arg
XM_005250982.2:c.13327G>C	XP_005251039.1:p.Gly4443Arg
XM_005250983.2:c.13309G>C	XP_005251040.1:p.Gly4437Arg
XM_005250984.3:c.13297G>C	XP_005251041.1:p.Gly4433Arg
XM_006716588.2:c.13474G>C	XP_006716651.1:p.Gly4492Arg
XM_006716589.2:c.13324G>C	XP_006716652.1:p.Gly4442Arg
XM_006716590.2:c.13324G>C	XP_006716653.1:p.Gly4442Arg
XM_011517130.1:c.13393G>C	XP_011515432.1:p.Gly4465Arg
XM_011517131.1:c.13309G>C	XP_011515433.1:p.Gly4437Arg
XM_011517132.1:c.10024G>C	XP_011515434.1:p.Gly3342Arg
XM_005250976.4:c.13804G>C	XP_005251033.1:p.Gly4602Arg
XM_005250978.3:c.13405G>C	XP_005251035.1:p.Gly4469Arg
XM_005250979.4:c.13393G>C	XP_005251036.1:p.Gly4465Arg
XM_005250980.4:c.13393G>C	XP_005251037.1:p.Gly4465Arg
XM_005250981.3:c.13351G>C	XP_005251038.1:p.Gly4451Arg
XM_005250982.4:c.13327G>C	XP_005251039.1:p.Gly4443Arg
XM_005250984.5:c.13297G>C	XP_005251041.1:p.Gly4433Arg
XM_006716588.3:c.13474G>C	XP_006716651.1:p.Gly4492Arg
XM_006716590.3:c.13324G>C	XP_006716653.1:p.Gly4442Arg
XM_011517130.2:c.13393G>C	XP_011515432.1:p.Gly4465Arg
XM_011517131.2:c.13309G>C	XP_011515433.1:p.Gly4437Arg
XM_011517132.2:c.10024G>C	XP_011515434.1:p.Gly3342Arg
NM_000445.5:c.13459G>C	NP_000436.2:p.Gly4487Arg
NM_201378.4:c.13336G>C MANE Plus Clinical	NP_958780.1:p.Gly4446Arg
NM_201379.3:c.13312G>C	NP_958781.1:p.Gly4438Arg
NM_201380.4:c.13789G>C	NP_958782.1:p.Gly4597Arg
NM_201381.3:c.13282G>C	NP_958783.1:p.Gly4428Arg
NM_201382.4:c.13378G>C	NP_958784.1:p.Gly4460Arg
NM_201383.3:c.13390G>C	NP_958785.1:p.Gly4464Arg
NM_201384.3:c.13378G>C MANE Select	NP_958786.1:p.Gly4460Arg