Canonical Allele Identifier: CA4923838

Gene: PLEC

Linked Data

• dbSNP Id: rs192224737
• ExAC: 8:144990645 G / T
• gnomAD v2: 8-144990645-G-T
• gnomAD v4: 8-143916477-G-T
• MyVariant Identifiers: chr8:g.144990645G>T (hg19) ; chr8:g.143916477G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916477G>T , CM000670.2:g.143916477G>T	GRCh38
NC_000008.10:g.144990645G>T , CM000670.1:g.144990645G>T	GRCh37
NC_000008.9:g.145062633G>T	NCBI36
NG_012492.1:g.65269C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13476C>A	ENSP00000437303.2:p.Asp4492Glu
ENST00000685198.1:c.13395C>A	ENSP00000510528.1:p.Asp4465Glu
ENST00000687971.1:c.13062C>A	ENSP00000510788.1:p.Asp4354Glu
ENST00000693060.1:c.13275C>A	ENSP00000510329.1:p.Asp4425Glu
ENST00000345136.8:c.13344C>A MANE Select	ENSP00000344848.3:p.Asp4448Glu
ENST00000527303.2:c.10044C>A	ENSP00000433982.2:p.Asp3348Glu
ENST00000322810.8:c.13755C>A	ENSP00000323856.4:p.Asp4585Glu
ENST00000345136.7:c.13344C>A	ENSP00000344848.3:p.Asp4448Glu
ENST00000354589.7:c.13344C>A	ENSP00000346602.3:p.Asp4448Glu
ENST00000354958.6:c.13278C>A	ENSP00000347044.2:p.Asp4426Glu
ENST00000356346.7:c.13302C>A MANE Plus Clinical	ENSP00000348702.3:p.Asp4434Glu
ENST00000357649.6:c.13356C>A	ENSP00000350277.2:p.Asp4452Glu
ENST00000398774.6:c.13248C>A	ENSP00000381756.2:p.Asp4416Glu
ENST00000436759.6:c.13425C>A	ENSP00000388180.2:p.Asp4475Glu
ENST00000527096.5:c.13413C>A	ENSP00000434583.1:p.Asp4471Glu
NM_000445.4:c.13425C>A	NP_000436.2:p.Asp4475Glu
NM_201378.3:c.13302C>A	NP_958780.1:p.Asp4434Glu
NM_201379.2:c.13278C>A	NP_958781.1:p.Asp4426Glu
NM_201380.3:c.13755C>A	NP_958782.1:p.Asp4585Glu
NM_201381.2:c.13248C>A	NP_958783.1:p.Asp4416Glu
NM_201382.3:c.13344C>A	NP_958784.1:p.Asp4448Glu
NM_201383.2:c.13356C>A	NP_958785.1:p.Asp4452Glu
NM_201384.2:c.13344C>A	NP_958786.1:p.Asp4448Glu
XM_005250976.2:c.13770C>A	XP_005251033.1:p.Asp4590Glu
XM_005250978.2:c.13371C>A	XP_005251035.1:p.Asp4457Glu
XM_005250979.3:c.13359C>A	XP_005251036.1:p.Asp4453Glu
XM_005250980.3:c.13359C>A	XP_005251037.1:p.Asp4453Glu
XM_005250981.2:c.13317C>A	XP_005251038.1:p.Asp4439Glu
XM_005250982.2:c.13293C>A	XP_005251039.1:p.Asp4431Glu
XM_005250983.2:c.13275C>A	XP_005251040.1:p.Asp4425Glu
XM_005250984.3:c.13263C>A	XP_005251041.1:p.Asp4421Glu
XM_006716588.2:c.13440C>A	XP_006716651.1:p.Asp4480Glu
XM_006716589.2:c.13290C>A	XP_006716652.1:p.Asp4430Glu
XM_006716590.2:c.13290C>A	XP_006716653.1:p.Asp4430Glu
XM_011517130.1:c.13359C>A	XP_011515432.1:p.Asp4453Glu
XM_011517131.1:c.13275C>A	XP_011515433.1:p.Asp4425Glu
XM_011517132.1:c.9990C>A	XP_011515434.1:p.Asp3330Glu
XM_005250976.4:c.13770C>A	XP_005251033.1:p.Asp4590Glu
XM_005250978.3:c.13371C>A	XP_005251035.1:p.Asp4457Glu
XM_005250979.4:c.13359C>A	XP_005251036.1:p.Asp4453Glu
XM_005250980.4:c.13359C>A	XP_005251037.1:p.Asp4453Glu
XM_005250981.3:c.13317C>A	XP_005251038.1:p.Asp4439Glu
XM_005250982.4:c.13293C>A	XP_005251039.1:p.Asp4431Glu
XM_005250984.5:c.13263C>A	XP_005251041.1:p.Asp4421Glu
XM_006716588.3:c.13440C>A	XP_006716651.1:p.Asp4480Glu
XM_006716590.3:c.13290C>A	XP_006716653.1:p.Asp4430Glu
XM_011517130.2:c.13359C>A	XP_011515432.1:p.Asp4453Glu
XM_011517131.2:c.13275C>A	XP_011515433.1:p.Asp4425Glu
XM_011517132.2:c.9990C>A	XP_011515434.1:p.Asp3330Glu
NM_000445.5:c.13425C>A	NP_000436.2:p.Asp4475Glu
NM_201378.4:c.13302C>A MANE Plus Clinical	NP_958780.1:p.Asp4434Glu
NM_201379.3:c.13278C>A	NP_958781.1:p.Asp4426Glu
NM_201380.4:c.13755C>A	NP_958782.1:p.Asp4585Glu
NM_201381.3:c.13248C>A	NP_958783.1:p.Asp4416Glu
NM_201382.4:c.13344C>A	NP_958784.1:p.Asp4448Glu
NM_201383.3:c.13356C>A	NP_958785.1:p.Asp4452Glu
NM_201384.3:c.13344C>A MANE Select	NP_958786.1:p.Asp4448Glu