Canonical Allele Identifier: CA4923856

Gene: PLEC

Linked Data

• dbSNP Id: rs782151042
• ExAC: 8:144990717 C / T
• gnomAD v2: 8-144990717-C-T
• gnomAD v4: 8-143916549-C-T
• MyVariant Identifiers: chr8:g.144990717C>T (hg19) ; chr8:g.143916549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916549C>T , CM000670.2:g.143916549C>T	GRCh38
NC_000008.10:g.144990717C>T , CM000670.1:g.144990717C>T	GRCh37
NC_000008.9:g.145062705C>T	NCBI36
NG_012492.1:g.65197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13404G>A	ENSP00000437303.2:p.Lys4468=
ENST00000685198.1:c.13323G>A	ENSP00000510528.1:p.Lys4441=
ENST00000687971.1:c.12990G>A	ENSP00000510788.1:p.Lys4330=
ENST00000693060.1:c.13203G>A	ENSP00000510329.1:p.Lys4401=
ENST00000345136.8:c.13272G>A MANE Select	ENSP00000344848.3:p.Lys4424=
ENST00000527303.2:c.9972G>A	ENSP00000433982.2:p.Lys3324=
ENST00000322810.8:c.13683G>A	ENSP00000323856.4:p.Lys4561=
ENST00000345136.7:c.13272G>A	ENSP00000344848.3:p.Lys4424=
ENST00000354589.7:c.13272G>A	ENSP00000346602.3:p.Lys4424=
ENST00000354958.6:c.13206G>A	ENSP00000347044.2:p.Lys4402=
ENST00000356346.7:c.13230G>A MANE Plus Clinical	ENSP00000348702.3:p.Lys4410=
ENST00000357649.6:c.13284G>A	ENSP00000350277.2:p.Lys4428=
ENST00000398774.6:c.13176G>A	ENSP00000381756.2:p.Lys4392=
ENST00000436759.6:c.13353G>A	ENSP00000388180.2:p.Lys4451=
ENST00000527096.5:c.13341G>A	ENSP00000434583.1:p.Lys4447=
NM_000445.4:c.13353G>A	NP_000436.2:p.Lys4451=
NM_201378.3:c.13230G>A	NP_958780.1:p.Lys4410=
NM_201379.2:c.13206G>A	NP_958781.1:p.Lys4402=
NM_201380.3:c.13683G>A	NP_958782.1:p.Lys4561=
NM_201381.2:c.13176G>A	NP_958783.1:p.Lys4392=
NM_201382.3:c.13272G>A	NP_958784.1:p.Lys4424=
NM_201383.2:c.13284G>A	NP_958785.1:p.Lys4428=
NM_201384.2:c.13272G>A	NP_958786.1:p.Lys4424=
XM_005250976.2:c.13698G>A	XP_005251033.1:p.Lys4566=
XM_005250978.2:c.13299G>A	XP_005251035.1:p.Lys4433=
XM_005250979.3:c.13287G>A	XP_005251036.1:p.Lys4429=
XM_005250980.3:c.13287G>A	XP_005251037.1:p.Lys4429=
XM_005250981.2:c.13245G>A	XP_005251038.1:p.Lys4415=
XM_005250982.2:c.13221G>A	XP_005251039.1:p.Lys4407=
XM_005250983.2:c.13203G>A	XP_005251040.1:p.Lys4401=
XM_005250984.3:c.13191G>A	XP_005251041.1:p.Lys4397=
XM_006716588.2:c.13368G>A	XP_006716651.1:p.Lys4456=
XM_006716589.2:c.13218G>A	XP_006716652.1:p.Lys4406=
XM_006716590.2:c.13218G>A	XP_006716653.1:p.Lys4406=
XM_011517130.1:c.13287G>A	XP_011515432.1:p.Lys4429=
XM_011517131.1:c.13203G>A	XP_011515433.1:p.Lys4401=
XM_011517132.1:c.9918G>A	XP_011515434.1:p.Lys3306=
XM_005250976.4:c.13698G>A	XP_005251033.1:p.Lys4566=
XM_005250978.3:c.13299G>A	XP_005251035.1:p.Lys4433=
XM_005250979.4:c.13287G>A	XP_005251036.1:p.Lys4429=
XM_005250980.4:c.13287G>A	XP_005251037.1:p.Lys4429=
XM_005250981.3:c.13245G>A	XP_005251038.1:p.Lys4415=
XM_005250982.4:c.13221G>A	XP_005251039.1:p.Lys4407=
XM_005250984.5:c.13191G>A	XP_005251041.1:p.Lys4397=
XM_006716588.3:c.13368G>A	XP_006716651.1:p.Lys4456=
XM_006716590.3:c.13218G>A	XP_006716653.1:p.Lys4406=
XM_011517130.2:c.13287G>A	XP_011515432.1:p.Lys4429=
XM_011517131.2:c.13203G>A	XP_011515433.1:p.Lys4401=
XM_011517132.2:c.9918G>A	XP_011515434.1:p.Lys3306=
NM_000445.5:c.13353G>A	NP_000436.2:p.Lys4451=
NM_201378.4:c.13230G>A MANE Plus Clinical	NP_958780.1:p.Lys4410=
NM_201379.3:c.13206G>A	NP_958781.1:p.Lys4402=
NM_201380.4:c.13683G>A	NP_958782.1:p.Lys4561=
NM_201381.3:c.13176G>A	NP_958783.1:p.Lys4392=
NM_201382.4:c.13272G>A	NP_958784.1:p.Lys4424=
NM_201383.3:c.13284G>A	NP_958785.1:p.Lys4428=
NM_201384.3:c.13272G>A MANE Select	NP_958786.1:p.Lys4424=