Canonical Allele Identifier: CA4923820

Gene: PLEC

Linked Data

• dbSNP Id: rs782440209
• ExAC: 8:144990604 C / G
• gnomAD v2: 8-144990604-C-G
• gnomAD v4: 8-143916436-C-G
• MyVariant Identifiers: chr8:g.144990604C>G (hg19) ; chr8:g.143916436C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916436C>G , CM000670.2:g.143916436C>G	GRCh38
NC_000008.10:g.144990604C>G , CM000670.1:g.144990604C>G	GRCh37
NC_000008.9:g.145062592C>G	NCBI36
NG_012492.1:g.65310G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13517G>C	ENSP00000437303.2:p.Arg4506Pro
ENST00000685198.1:c.13436G>C	ENSP00000510528.1:p.Arg4479Pro
ENST00000687971.1:c.13103G>C	ENSP00000510788.1:p.Arg4368Pro
ENST00000693060.1:c.13316G>C	ENSP00000510329.1:p.Arg4439Pro
ENST00000345136.8:c.13385G>C MANE Select	ENSP00000344848.3:p.Arg4462Pro
ENST00000527303.2:c.10085G>C	ENSP00000433982.2:p.Arg3362Pro
ENST00000322810.8:c.13796G>C	ENSP00000323856.4:p.Arg4599Pro
ENST00000345136.7:c.13385G>C	ENSP00000344848.3:p.Arg4462Pro
ENST00000354589.7:c.13385G>C	ENSP00000346602.3:p.Arg4462Pro
ENST00000354958.6:c.13319G>C	ENSP00000347044.2:p.Arg4440Pro
ENST00000356346.7:c.13343G>C MANE Plus Clinical	ENSP00000348702.3:p.Arg4448Pro
ENST00000357649.6:c.13397G>C	ENSP00000350277.2:p.Arg4466Pro
ENST00000398774.6:c.13289G>C	ENSP00000381756.2:p.Arg4430Pro
ENST00000436759.6:c.13466G>C	ENSP00000388180.2:p.Arg4489Pro
ENST00000527096.5:c.13454G>C	ENSP00000434583.1:p.Arg4485Pro
NM_000445.4:c.13466G>C	NP_000436.2:p.Arg4489Pro
NM_201378.3:c.13343G>C	NP_958780.1:p.Arg4448Pro
NM_201379.2:c.13319G>C	NP_958781.1:p.Arg4440Pro
NM_201380.3:c.13796G>C	NP_958782.1:p.Arg4599Pro
NM_201381.2:c.13289G>C	NP_958783.1:p.Arg4430Pro
NM_201382.3:c.13385G>C	NP_958784.1:p.Arg4462Pro
NM_201383.2:c.13397G>C	NP_958785.1:p.Arg4466Pro
NM_201384.2:c.13385G>C	NP_958786.1:p.Arg4462Pro
XM_005250976.2:c.13811G>C	XP_005251033.1:p.Arg4604Pro
XM_005250978.2:c.13412G>C	XP_005251035.1:p.Arg4471Pro
XM_005250979.3:c.13400G>C	XP_005251036.1:p.Arg4467Pro
XM_005250980.3:c.13400G>C	XP_005251037.1:p.Arg4467Pro
XM_005250981.2:c.13358G>C	XP_005251038.1:p.Arg4453Pro
XM_005250982.2:c.13334G>C	XP_005251039.1:p.Arg4445Pro
XM_005250983.2:c.13316G>C	XP_005251040.1:p.Arg4439Pro
XM_005250984.3:c.13304G>C	XP_005251041.1:p.Arg4435Pro
XM_006716588.2:c.13481G>C	XP_006716651.1:p.Arg4494Pro
XM_006716589.2:c.13331G>C	XP_006716652.1:p.Arg4444Pro
XM_006716590.2:c.13331G>C	XP_006716653.1:p.Arg4444Pro
XM_011517130.1:c.13400G>C	XP_011515432.1:p.Arg4467Pro
XM_011517131.1:c.13316G>C	XP_011515433.1:p.Arg4439Pro
XM_011517132.1:c.10031G>C	XP_011515434.1:p.Arg3344Pro
XM_005250976.4:c.13811G>C	XP_005251033.1:p.Arg4604Pro
XM_005250978.3:c.13412G>C	XP_005251035.1:p.Arg4471Pro
XM_005250979.4:c.13400G>C	XP_005251036.1:p.Arg4467Pro
XM_005250980.4:c.13400G>C	XP_005251037.1:p.Arg4467Pro
XM_005250981.3:c.13358G>C	XP_005251038.1:p.Arg4453Pro
XM_005250982.4:c.13334G>C	XP_005251039.1:p.Arg4445Pro
XM_005250984.5:c.13304G>C	XP_005251041.1:p.Arg4435Pro
XM_006716588.3:c.13481G>C	XP_006716651.1:p.Arg4494Pro
XM_006716590.3:c.13331G>C	XP_006716653.1:p.Arg4444Pro
XM_011517130.2:c.13400G>C	XP_011515432.1:p.Arg4467Pro
XM_011517131.2:c.13316G>C	XP_011515433.1:p.Arg4439Pro
XM_011517132.2:c.10031G>C	XP_011515434.1:p.Arg3344Pro
NM_000445.5:c.13466G>C	NP_000436.2:p.Arg4489Pro
NM_201378.4:c.13343G>C MANE Plus Clinical	NP_958780.1:p.Arg4448Pro
NM_201379.3:c.13319G>C	NP_958781.1:p.Arg4440Pro
NM_201380.4:c.13796G>C	NP_958782.1:p.Arg4599Pro
NM_201381.3:c.13289G>C	NP_958783.1:p.Arg4430Pro
NM_201382.4:c.13385G>C	NP_958784.1:p.Arg4462Pro
NM_201383.3:c.13397G>C	NP_958785.1:p.Arg4466Pro
NM_201384.3:c.13385G>C MANE Select	NP_958786.1:p.Arg4462Pro