Canonical Allele Identifier: CA4923795

Gene: PLEC

Linked Data

• ClinVar Variation Id: 288999
• ClinVar RCV Id: RCV000402032 ; RCV000726265 ; RCV001039102 ; RCV003165766
• dbSNP Id: rs782756146
• ExAC: 8:144990518 T / C
• gnomAD v2: 8-144990518-T-C
• gnomAD v3: 8-143916350-T-C
• gnomAD v4: 8-143916350-T-C
• MyVariant Identifiers: chr8:g.144990518T>C (hg19) ; chr8:g.143916350T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916350T>C , CM000670.2:g.143916350T>C	GRCh38
NC_000008.10:g.144990518T>C , CM000670.1:g.144990518T>C	GRCh37
NC_000008.9:g.145062506T>C	NCBI36
NG_012492.1:g.65396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13603A>G	ENSP00000437303.2:p.Thr4535Ala
ENST00000685198.1:c.13522A>G	ENSP00000510528.1:p.Thr4508Ala
ENST00000687971.1:c.13189A>G	ENSP00000510788.1:p.Thr4397Ala
ENST00000693060.1:c.13402A>G	ENSP00000510329.1:p.Thr4468Ala
ENST00000345136.8:c.13471A>G MANE Select	ENSP00000344848.3:p.Thr4491Ala
ENST00000527303.2:c.10171A>G	ENSP00000433982.2:p.Thr3391Ala
ENST00000322810.8:c.13882A>G	ENSP00000323856.4:p.Thr4628Ala
ENST00000345136.7:c.13471A>G	ENSP00000344848.3:p.Thr4491Ala
ENST00000354589.7:c.13471A>G	ENSP00000346602.3:p.Thr4491Ala
ENST00000354958.6:c.13405A>G	ENSP00000347044.2:p.Thr4469Ala
ENST00000356346.7:c.13429A>G MANE Plus Clinical	ENSP00000348702.3:p.Thr4477Ala
ENST00000357649.6:c.13483A>G	ENSP00000350277.2:p.Thr4495Ala
ENST00000398774.6:c.13375A>G	ENSP00000381756.2:p.Thr4459Ala
ENST00000436759.6:c.13552A>G	ENSP00000388180.2:p.Thr4518Ala
ENST00000527096.5:c.13540A>G	ENSP00000434583.1:p.Thr4514Ala
NM_000445.4:c.13552A>G	NP_000436.2:p.Thr4518Ala
NM_201378.3:c.13429A>G	NP_958780.1:p.Thr4477Ala
NM_201379.2:c.13405A>G	NP_958781.1:p.Thr4469Ala
NM_201380.3:c.13882A>G	NP_958782.1:p.Thr4628Ala
NM_201381.2:c.13375A>G	NP_958783.1:p.Thr4459Ala
NM_201382.3:c.13471A>G	NP_958784.1:p.Thr4491Ala
NM_201383.2:c.13483A>G	NP_958785.1:p.Thr4495Ala
NM_201384.2:c.13471A>G	NP_958786.1:p.Thr4491Ala
XM_005250976.2:c.13897A>G	XP_005251033.1:p.Thr4633Ala
XM_005250978.2:c.13498A>G	XP_005251035.1:p.Thr4500Ala
XM_005250979.3:c.13486A>G	XP_005251036.1:p.Thr4496Ala
XM_005250980.3:c.13486A>G	XP_005251037.1:p.Thr4496Ala
XM_005250981.2:c.13444A>G	XP_005251038.1:p.Thr4482Ala
XM_005250982.2:c.13420A>G	XP_005251039.1:p.Thr4474Ala
XM_005250983.2:c.13402A>G	XP_005251040.1:p.Thr4468Ala
XM_005250984.3:c.13390A>G	XP_005251041.1:p.Thr4464Ala
XM_006716588.2:c.13567A>G	XP_006716651.1:p.Thr4523Ala
XM_006716589.2:c.13417A>G	XP_006716652.1:p.Thr4473Ala
XM_006716590.2:c.13417A>G	XP_006716653.1:p.Thr4473Ala
XM_011517130.1:c.13486A>G	XP_011515432.1:p.Thr4496Ala
XM_011517131.1:c.13402A>G	XP_011515433.1:p.Thr4468Ala
XM_011517132.1:c.10117A>G	XP_011515434.1:p.Thr3373Ala
XM_005250976.4:c.13897A>G	XP_005251033.1:p.Thr4633Ala
XM_005250978.3:c.13498A>G	XP_005251035.1:p.Thr4500Ala
XM_005250979.4:c.13486A>G	XP_005251036.1:p.Thr4496Ala
XM_005250980.4:c.13486A>G	XP_005251037.1:p.Thr4496Ala
XM_005250981.3:c.13444A>G	XP_005251038.1:p.Thr4482Ala
XM_005250982.4:c.13420A>G	XP_005251039.1:p.Thr4474Ala
XM_005250984.5:c.13390A>G	XP_005251041.1:p.Thr4464Ala
XM_006716588.3:c.13567A>G	XP_006716651.1:p.Thr4523Ala
XM_006716590.3:c.13417A>G	XP_006716653.1:p.Thr4473Ala
XM_011517130.2:c.13486A>G	XP_011515432.1:p.Thr4496Ala
XM_011517131.2:c.13402A>G	XP_011515433.1:p.Thr4468Ala
XM_011517132.2:c.10117A>G	XP_011515434.1:p.Thr3373Ala
NM_000445.5:c.13552A>G	NP_000436.2:p.Thr4518Ala
NM_201378.4:c.13429A>G MANE Plus Clinical	NP_958780.1:p.Thr4477Ala
NM_201379.3:c.13405A>G	NP_958781.1:p.Thr4469Ala
NM_201380.4:c.13882A>G	NP_958782.1:p.Thr4628Ala
NM_201381.3:c.13375A>G	NP_958783.1:p.Thr4459Ala
NM_201382.4:c.13471A>G	NP_958784.1:p.Thr4491Ala
NM_201383.3:c.13483A>G	NP_958785.1:p.Thr4495Ala
NM_201384.3:c.13471A>G MANE Select	NP_958786.1:p.Thr4491Ala