Canonical Allele Identifier: CA372479227

Gene: PLEC

Linked Data

• ClinVar Variation Id: 2947784
• ClinVar RCV Id: RCV003804414
• dbSNP Id: rs782080936
• MyVariant Identifiers: chr8:g.144991253G>C (hg19) ; chr8:g.143917085G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143917085G>C , CM000670.2:g.143917085G>C	GRCh38
NC_000008.10:g.144991253G>C , CM000670.1:g.144991253G>C	GRCh37
NC_000008.9:g.145063241G>C	NCBI36
NG_012492.1:g.64661C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.12868C>G	ENSP00000437303.2:p.Arg4290Gly
ENST00000685198.1:c.12787C>G	ENSP00000510528.1:p.Arg4263Gly
ENST00000687971.1:c.12454C>G	ENSP00000510788.1:p.Arg4152Gly
ENST00000693060.1:c.12667C>G	ENSP00000510329.1:p.Arg4223Gly
ENST00000345136.8:c.12736C>G MANE Select	ENSP00000344848.3:p.Arg4246Gly
ENST00000527303.2:c.9436C>G	ENSP00000433982.2:p.Arg3146Gly
ENST00000322810.8:c.13147C>G	ENSP00000323856.4:p.Arg4383Gly
ENST00000345136.7:c.12736C>G	ENSP00000344848.3:p.Arg4246Gly
ENST00000354589.7:c.12736C>G	ENSP00000346602.3:p.Arg4246Gly
ENST00000354958.6:c.12670C>G	ENSP00000347044.2:p.Arg4224Gly
ENST00000356346.7:c.12694C>G MANE Plus Clinical	ENSP00000348702.3:p.Arg4232Gly
ENST00000357649.6:c.12748C>G	ENSP00000350277.2:p.Arg4250Gly
ENST00000398774.6:c.12640C>G	ENSP00000381756.2:p.Arg4214Gly
ENST00000436759.6:c.12817C>G	ENSP00000388180.2:p.Arg4273Gly
ENST00000527096.5:c.12805C>G	ENSP00000434583.1:p.Arg4269Gly
NM_000445.4:c.12817C>G	NP_000436.2:p.Arg4273Gly
NM_201378.3:c.12694C>G	NP_958780.1:p.Arg4232Gly
NM_201379.2:c.12670C>G	NP_958781.1:p.Arg4224Gly
NM_201380.3:c.13147C>G	NP_958782.1:p.Arg4383Gly
NM_201381.2:c.12640C>G	NP_958783.1:p.Arg4214Gly
NM_201382.3:c.12736C>G	NP_958784.1:p.Arg4246Gly
NM_201383.2:c.12748C>G	NP_958785.1:p.Arg4250Gly
NM_201384.2:c.12736C>G	NP_958786.1:p.Arg4246Gly
XM_005250976.2:c.13162C>G	XP_005251033.1:p.Arg4388Gly
XM_005250978.2:c.12763C>G	XP_005251035.1:p.Arg4255Gly
XM_005250979.3:c.12751C>G	XP_005251036.1:p.Arg4251Gly
XM_005250980.3:c.12751C>G	XP_005251037.1:p.Arg4251Gly
XM_005250981.2:c.12709C>G	XP_005251038.1:p.Arg4237Gly
XM_005250982.2:c.12685C>G	XP_005251039.1:p.Arg4229Gly
XM_005250983.2:c.12667C>G	XP_005251040.1:p.Arg4223Gly
XM_005250984.3:c.12655C>G	XP_005251041.1:p.Arg4219Gly
XM_006716588.2:c.12832C>G	XP_006716651.1:p.Arg4278Gly
XM_006716589.2:c.12682C>G	XP_006716652.1:p.Arg4228Gly
XM_006716590.2:c.12682C>G	XP_006716653.1:p.Arg4228Gly
XM_011517130.1:c.12751C>G	XP_011515432.1:p.Arg4251Gly
XM_011517131.1:c.12667C>G	XP_011515433.1:p.Arg4223Gly
XM_011517132.1:c.9382C>G	XP_011515434.1:p.Arg3128Gly
XM_005250976.4:c.13162C>G	XP_005251033.1:p.Arg4388Gly
XM_005250978.3:c.12763C>G	XP_005251035.1:p.Arg4255Gly
XM_005250979.4:c.12751C>G	XP_005251036.1:p.Arg4251Gly
XM_005250980.4:c.12751C>G	XP_005251037.1:p.Arg4251Gly
XM_005250981.3:c.12709C>G	XP_005251038.1:p.Arg4237Gly
XM_005250982.4:c.12685C>G	XP_005251039.1:p.Arg4229Gly
XM_005250984.5:c.12655C>G	XP_005251041.1:p.Arg4219Gly
XM_006716588.3:c.12832C>G	XP_006716651.1:p.Arg4278Gly
XM_006716590.3:c.12682C>G	XP_006716653.1:p.Arg4228Gly
XM_011517130.2:c.12751C>G	XP_011515432.1:p.Arg4251Gly
XM_011517131.2:c.12667C>G	XP_011515433.1:p.Arg4223Gly
XM_011517132.2:c.9382C>G	XP_011515434.1:p.Arg3128Gly
NM_000445.5:c.12817C>G	NP_000436.2:p.Arg4273Gly
NM_201378.4:c.12694C>G MANE Plus Clinical	NP_958780.1:p.Arg4232Gly
NM_201379.3:c.12670C>G	NP_958781.1:p.Arg4224Gly
NM_201380.4:c.13147C>G	NP_958782.1:p.Arg4383Gly
NM_201381.3:c.12640C>G	NP_958783.1:p.Arg4214Gly
NM_201382.4:c.12736C>G	NP_958784.1:p.Arg4246Gly
NM_201383.3:c.12748C>G	NP_958785.1:p.Arg4250Gly
NM_201384.3:c.12736C>G MANE Select	NP_958786.1:p.Arg4246Gly