Canonical Allele Identifier: CA372474741

Gene: PLEC

Linked Data

• ClinVar Variation Id: 2948314
• ClinVar RCV Id: RCV003807136
• MyVariant Identifiers: chr8:g.144990622T>C (hg19) ; chr8:g.143916454T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916454T>C , CM000670.2:g.143916454T>C	GRCh38
NC_000008.10:g.144990622T>C , CM000670.1:g.144990622T>C	GRCh37
NC_000008.9:g.145062610T>C	NCBI36
NG_012492.1:g.65292A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13499A>G	ENSP00000437303.2:p.Glu4500Gly
ENST00000685198.1:c.13418A>G	ENSP00000510528.1:p.Glu4473Gly
ENST00000687971.1:c.13085A>G	ENSP00000510788.1:p.Glu4362Gly
ENST00000693060.1:c.13298A>G	ENSP00000510329.1:p.Glu4433Gly
ENST00000345136.8:c.13367A>G MANE Select	ENSP00000344848.3:p.Glu4456Gly
ENST00000527303.2:c.10067A>G	ENSP00000433982.2:p.Glu3356Gly
ENST00000322810.8:c.13778A>G	ENSP00000323856.4:p.Glu4593Gly
ENST00000345136.7:c.13367A>G	ENSP00000344848.3:p.Glu4456Gly
ENST00000354589.7:c.13367A>G	ENSP00000346602.3:p.Glu4456Gly
ENST00000354958.6:c.13301A>G	ENSP00000347044.2:p.Glu4434Gly
ENST00000356346.7:c.13325A>G MANE Plus Clinical	ENSP00000348702.3:p.Glu4442Gly
ENST00000357649.6:c.13379A>G	ENSP00000350277.2:p.Glu4460Gly
ENST00000398774.6:c.13271A>G	ENSP00000381756.2:p.Glu4424Gly
ENST00000436759.6:c.13448A>G	ENSP00000388180.2:p.Glu4483Gly
ENST00000527096.5:c.13436A>G	ENSP00000434583.1:p.Glu4479Gly
NM_000445.4:c.13448A>G	NP_000436.2:p.Glu4483Gly
NM_201378.3:c.13325A>G	NP_958780.1:p.Glu4442Gly
NM_201379.2:c.13301A>G	NP_958781.1:p.Glu4434Gly
NM_201380.3:c.13778A>G	NP_958782.1:p.Glu4593Gly
NM_201381.2:c.13271A>G	NP_958783.1:p.Glu4424Gly
NM_201382.3:c.13367A>G	NP_958784.1:p.Glu4456Gly
NM_201383.2:c.13379A>G	NP_958785.1:p.Glu4460Gly
NM_201384.2:c.13367A>G	NP_958786.1:p.Glu4456Gly
XM_005250976.2:c.13793A>G	XP_005251033.1:p.Glu4598Gly
XM_005250978.2:c.13394A>G	XP_005251035.1:p.Glu4465Gly
XM_005250979.3:c.13382A>G	XP_005251036.1:p.Glu4461Gly
XM_005250980.3:c.13382A>G	XP_005251037.1:p.Glu4461Gly
XM_005250981.2:c.13340A>G	XP_005251038.1:p.Glu4447Gly
XM_005250982.2:c.13316A>G	XP_005251039.1:p.Glu4439Gly
XM_005250983.2:c.13298A>G	XP_005251040.1:p.Glu4433Gly
XM_005250984.3:c.13286A>G	XP_005251041.1:p.Glu4429Gly
XM_006716588.2:c.13463A>G	XP_006716651.1:p.Glu4488Gly
XM_006716589.2:c.13313A>G	XP_006716652.1:p.Glu4438Gly
XM_006716590.2:c.13313A>G	XP_006716653.1:p.Glu4438Gly
XM_011517130.1:c.13382A>G	XP_011515432.1:p.Glu4461Gly
XM_011517131.1:c.13298A>G	XP_011515433.1:p.Glu4433Gly
XM_011517132.1:c.10013A>G	XP_011515434.1:p.Glu3338Gly
XM_005250976.4:c.13793A>G	XP_005251033.1:p.Glu4598Gly
XM_005250978.3:c.13394A>G	XP_005251035.1:p.Glu4465Gly
XM_005250979.4:c.13382A>G	XP_005251036.1:p.Glu4461Gly
XM_005250980.4:c.13382A>G	XP_005251037.1:p.Glu4461Gly
XM_005250981.3:c.13340A>G	XP_005251038.1:p.Glu4447Gly
XM_005250982.4:c.13316A>G	XP_005251039.1:p.Glu4439Gly
XM_005250984.5:c.13286A>G	XP_005251041.1:p.Glu4429Gly
XM_006716588.3:c.13463A>G	XP_006716651.1:p.Glu4488Gly
XM_006716590.3:c.13313A>G	XP_006716653.1:p.Glu4438Gly
XM_011517130.2:c.13382A>G	XP_011515432.1:p.Glu4461Gly
XM_011517131.2:c.13298A>G	XP_011515433.1:p.Glu4433Gly
XM_011517132.2:c.10013A>G	XP_011515434.1:p.Glu3338Gly
NM_000445.5:c.13448A>G	NP_000436.2:p.Glu4483Gly
NM_201378.4:c.13325A>G MANE Plus Clinical	NP_958780.1:p.Glu4442Gly
NM_201379.3:c.13301A>G	NP_958781.1:p.Glu4434Gly
NM_201380.4:c.13778A>G	NP_958782.1:p.Glu4593Gly
NM_201381.3:c.13271A>G	NP_958783.1:p.Glu4424Gly
NM_201382.4:c.13367A>G	NP_958784.1:p.Glu4456Gly
NM_201383.3:c.13379A>G	NP_958785.1:p.Glu4460Gly
NM_201384.3:c.13367A>G MANE Select	NP_958786.1:p.Glu4456Gly