Canonical Allele Identifier: CA372475647

Gene: PLEC

Linked Data

• ClinVar Variation Id: 2013363
• ClinVar RCV Id: RCV002834619 ; RCV003134510
• gnomAD v4: 8-143916498-C-G
• MyVariant Identifiers: chr8:g.144990666C>G (hg19) ; chr8:g.143916498C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916498C>G , CM000670.2:g.143916498C>G	GRCh38
NC_000008.10:g.144990666C>G , CM000670.1:g.144990666C>G	GRCh37
NC_000008.9:g.145062654C>G	NCBI36
NG_012492.1:g.65248G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13455G>C	ENSP00000437303.2:p.Lys4485Asn
ENST00000685198.1:c.13374G>C	ENSP00000510528.1:p.Lys4458Asn
ENST00000687971.1:c.13041G>C	ENSP00000510788.1:p.Lys4347Asn
ENST00000693060.1:c.13254G>C	ENSP00000510329.1:p.Lys4418Asn
ENST00000345136.8:c.13323G>C MANE Select	ENSP00000344848.3:p.Lys4441Asn
ENST00000527303.2:c.10023G>C	ENSP00000433982.2:p.Lys3341Asn
ENST00000322810.8:c.13734G>C	ENSP00000323856.4:p.Lys4578Asn
ENST00000345136.7:c.13323G>C	ENSP00000344848.3:p.Lys4441Asn
ENST00000354589.7:c.13323G>C	ENSP00000346602.3:p.Lys4441Asn
ENST00000354958.6:c.13257G>C	ENSP00000347044.2:p.Lys4419Asn
ENST00000356346.7:c.13281G>C MANE Plus Clinical	ENSP00000348702.3:p.Lys4427Asn
ENST00000357649.6:c.13335G>C	ENSP00000350277.2:p.Lys4445Asn
ENST00000398774.6:c.13227G>C	ENSP00000381756.2:p.Lys4409Asn
ENST00000436759.6:c.13404G>C	ENSP00000388180.2:p.Lys4468Asn
ENST00000527096.5:c.13392G>C	ENSP00000434583.1:p.Lys4464Asn
NM_000445.4:c.13404G>C	NP_000436.2:p.Lys4468Asn
NM_201378.3:c.13281G>C	NP_958780.1:p.Lys4427Asn
NM_201379.2:c.13257G>C	NP_958781.1:p.Lys4419Asn
NM_201380.3:c.13734G>C	NP_958782.1:p.Lys4578Asn
NM_201381.2:c.13227G>C	NP_958783.1:p.Lys4409Asn
NM_201382.3:c.13323G>C	NP_958784.1:p.Lys4441Asn
NM_201383.2:c.13335G>C	NP_958785.1:p.Lys4445Asn
NM_201384.2:c.13323G>C	NP_958786.1:p.Lys4441Asn
XM_005250976.2:c.13749G>C	XP_005251033.1:p.Lys4583Asn
XM_005250978.2:c.13350G>C	XP_005251035.1:p.Lys4450Asn
XM_005250979.3:c.13338G>C	XP_005251036.1:p.Lys4446Asn
XM_005250980.3:c.13338G>C	XP_005251037.1:p.Lys4446Asn
XM_005250981.2:c.13296G>C	XP_005251038.1:p.Lys4432Asn
XM_005250982.2:c.13272G>C	XP_005251039.1:p.Lys4424Asn
XM_005250983.2:c.13254G>C	XP_005251040.1:p.Lys4418Asn
XM_005250984.3:c.13242G>C	XP_005251041.1:p.Lys4414Asn
XM_006716588.2:c.13419G>C	XP_006716651.1:p.Lys4473Asn
XM_006716589.2:c.13269G>C	XP_006716652.1:p.Lys4423Asn
XM_006716590.2:c.13269G>C	XP_006716653.1:p.Lys4423Asn
XM_011517130.1:c.13338G>C	XP_011515432.1:p.Lys4446Asn
XM_011517131.1:c.13254G>C	XP_011515433.1:p.Lys4418Asn
XM_011517132.1:c.9969G>C	XP_011515434.1:p.Lys3323Asn
XM_005250976.4:c.13749G>C	XP_005251033.1:p.Lys4583Asn
XM_005250978.3:c.13350G>C	XP_005251035.1:p.Lys4450Asn
XM_005250979.4:c.13338G>C	XP_005251036.1:p.Lys4446Asn
XM_005250980.4:c.13338G>C	XP_005251037.1:p.Lys4446Asn
XM_005250981.3:c.13296G>C	XP_005251038.1:p.Lys4432Asn
XM_005250982.4:c.13272G>C	XP_005251039.1:p.Lys4424Asn
XM_005250984.5:c.13242G>C	XP_005251041.1:p.Lys4414Asn
XM_006716588.3:c.13419G>C	XP_006716651.1:p.Lys4473Asn
XM_006716590.3:c.13269G>C	XP_006716653.1:p.Lys4423Asn
XM_011517130.2:c.13338G>C	XP_011515432.1:p.Lys4446Asn
XM_011517131.2:c.13254G>C	XP_011515433.1:p.Lys4418Asn
XM_011517132.2:c.9969G>C	XP_011515434.1:p.Lys3323Asn
NM_000445.5:c.13404G>C	NP_000436.2:p.Lys4468Asn
NM_201378.4:c.13281G>C MANE Plus Clinical	NP_958780.1:p.Lys4427Asn
NM_201379.3:c.13257G>C	NP_958781.1:p.Lys4419Asn
NM_201380.4:c.13734G>C	NP_958782.1:p.Lys4578Asn
NM_201381.3:c.13227G>C	NP_958783.1:p.Lys4409Asn
NM_201382.4:c.13323G>C	NP_958784.1:p.Lys4441Asn
NM_201383.3:c.13335G>C	NP_958785.1:p.Lys4445Asn
NM_201384.3:c.13323G>C MANE Select	NP_958786.1:p.Lys4441Asn