Canonical Allele Identifier: CA463525632

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916504-C-T
• MyVariant Identifiers: chr8:g.144990672C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916504C>T , CM000670.2:g.143916504C>T	GRCh38
NC_000008.10:g.144990672C>T , CM000670.1:g.144990672C>T	GRCh37
NC_000008.9:g.145062660C>T	NCBI36
NG_012492.1:g.65242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13449G>A	ENSP00000437303.2:p.Lys4483=
ENST00000685198.1:c.13368G>A	ENSP00000510528.1:p.Lys4456=
ENST00000687971.1:c.13035G>A	ENSP00000510788.1:p.Lys4345=
ENST00000693060.1:c.13248G>A	ENSP00000510329.1:p.Lys4416=
ENST00000345136.8:c.13317G>A MANE Select	ENSP00000344848.3:p.Lys4439=
ENST00000527303.2:c.10017G>A	ENSP00000433982.2:p.Lys3339=
ENST00000322810.8:c.13728G>A	ENSP00000323856.4:p.Lys4576=
ENST00000345136.7:c.13317G>A	ENSP00000344848.3:p.Lys4439=
ENST00000354589.7:c.13317G>A	ENSP00000346602.3:p.Lys4439=
ENST00000354958.6:c.13251G>A	ENSP00000347044.2:p.Lys4417=
ENST00000356346.7:c.13275G>A MANE Plus Clinical	ENSP00000348702.3:p.Lys4425=
ENST00000357649.6:c.13329G>A	ENSP00000350277.2:p.Lys4443=
ENST00000398774.6:c.13221G>A	ENSP00000381756.2:p.Lys4407=
ENST00000436759.6:c.13398G>A	ENSP00000388180.2:p.Lys4466=
ENST00000527096.5:c.13386G>A	ENSP00000434583.1:p.Lys4462=
NM_000445.4:c.13398G>A	NP_000436.2:p.Lys4466=
NM_201378.3:c.13275G>A	NP_958780.1:p.Lys4425=
NM_201379.2:c.13251G>A	NP_958781.1:p.Lys4417=
NM_201380.3:c.13728G>A	NP_958782.1:p.Lys4576=
NM_201381.2:c.13221G>A	NP_958783.1:p.Lys4407=
NM_201382.3:c.13317G>A	NP_958784.1:p.Lys4439=
NM_201383.2:c.13329G>A	NP_958785.1:p.Lys4443=
NM_201384.2:c.13317G>A	NP_958786.1:p.Lys4439=
XM_005250976.2:c.13743G>A	XP_005251033.1:p.Lys4581=
XM_005250978.2:c.13344G>A	XP_005251035.1:p.Lys4448=
XM_005250979.3:c.13332G>A	XP_005251036.1:p.Lys4444=
XM_005250980.3:c.13332G>A	XP_005251037.1:p.Lys4444=
XM_005250981.2:c.13290G>A	XP_005251038.1:p.Lys4430=
XM_005250982.2:c.13266G>A	XP_005251039.1:p.Lys4422=
XM_005250983.2:c.13248G>A	XP_005251040.1:p.Lys4416=
XM_005250984.3:c.13236G>A	XP_005251041.1:p.Lys4412=
XM_006716588.2:c.13413G>A	XP_006716651.1:p.Lys4471=
XM_006716589.2:c.13263G>A	XP_006716652.1:p.Lys4421=
XM_006716590.2:c.13263G>A	XP_006716653.1:p.Lys4421=
XM_011517130.1:c.13332G>A	XP_011515432.1:p.Lys4444=
XM_011517131.1:c.13248G>A	XP_011515433.1:p.Lys4416=
XM_011517132.1:c.9963G>A	XP_011515434.1:p.Lys3321=
XM_005250976.4:c.13743G>A	XP_005251033.1:p.Lys4581=
XM_005250978.3:c.13344G>A	XP_005251035.1:p.Lys4448=
XM_005250979.4:c.13332G>A	XP_005251036.1:p.Lys4444=
XM_005250980.4:c.13332G>A	XP_005251037.1:p.Lys4444=
XM_005250981.3:c.13290G>A	XP_005251038.1:p.Lys4430=
XM_005250982.4:c.13266G>A	XP_005251039.1:p.Lys4422=
XM_005250984.5:c.13236G>A	XP_005251041.1:p.Lys4412=
XM_006716588.3:c.13413G>A	XP_006716651.1:p.Lys4471=
XM_006716590.3:c.13263G>A	XP_006716653.1:p.Lys4421=
XM_011517130.2:c.13332G>A	XP_011515432.1:p.Lys4444=
XM_011517131.2:c.13248G>A	XP_011515433.1:p.Lys4416=
XM_011517132.2:c.9963G>A	XP_011515434.1:p.Lys3321=
NM_000445.5:c.13398G>A	NP_000436.2:p.Lys4466=
NM_201378.4:c.13275G>A MANE Plus Clinical	NP_958780.1:p.Lys4425=
NM_201379.3:c.13251G>A	NP_958781.1:p.Lys4417=
NM_201380.4:c.13728G>A	NP_958782.1:p.Lys4576=
NM_201381.3:c.13221G>A	NP_958783.1:p.Lys4407=
NM_201382.4:c.13317G>A	NP_958784.1:p.Lys4439=
NM_201383.3:c.13329G>A	NP_958785.1:p.Lys4443=
NM_201384.3:c.13317G>A MANE Select	NP_958786.1:p.Lys4439=