Canonical Allele Identifier: CA4926197

Gene: PLEC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143924012G>T , CM000670.2:g.143924012G>T	GRCh38
NC_000008.10:g.144998180G>T , CM000670.1:g.144998180G>T	GRCh37
NC_000008.9:g.145070168G>T	NCBI36
NG_012492.1:g.57734C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.6049C>A	ENSP00000437303.2:p.Arg2017=
ENST00000685198.1:c.5968C>A	ENSP00000510528.1:p.Arg1990=
ENST00000687971.1:c.5635C>A	ENSP00000510788.1:p.Arg1879=
ENST00000693060.1:c.5848C>A	ENSP00000510329.1:p.Arg1950=
ENST00000345136.8:c.5917C>A MANE Select	ENSP00000344848.3:p.Arg1973=
ENST00000527303.2:c.4126-1617C>A	ENSP00000433982.2:n.4126-1617C>A
ENST00000322810.8:c.6328C>A	ENSP00000323856.4:p.Arg2110=
ENST00000345136.7:c.5917C>A	ENSP00000344848.3:p.Arg1973=
ENST00000354589.7:c.5917C>A	ENSP00000346602.3:p.Arg1973=
ENST00000354958.6:c.5851C>A	ENSP00000347044.2:p.Arg1951=
ENST00000356346.7:c.5875C>A MANE Plus Clinical	ENSP00000348702.3:p.Arg1959=
ENST00000357649.6:c.5929C>A	ENSP00000350277.2:p.Arg1977=
ENST00000398774.6:c.5821C>A	ENSP00000381756.2:p.Arg1941=
ENST00000436759.6:c.5998C>A	ENSP00000388180.2:p.Arg2000=
ENST00000527096.5:c.5986C>A	ENSP00000434583.1:p.Arg1996=
ENST00000527303.1:c.135-1617C>A
NM_000445.4:c.5998C>A	NP_000436.2:p.Arg2000=
NM_201378.3:c.5875C>A	NP_958780.1:p.Arg1959=
NM_201379.2:c.5851C>A	NP_958781.1:p.Arg1951=
NM_201380.3:c.6328C>A	NP_958782.1:p.Arg2110=
NM_201381.2:c.5821C>A	NP_958783.1:p.Arg1941=
NM_201382.3:c.5917C>A	NP_958784.1:p.Arg1973=
NM_201383.2:c.5929C>A	NP_958785.1:p.Arg1977=
NM_201384.2:c.5917C>A	NP_958786.1:p.Arg1973=
XM_005250976.2:c.6343C>A	XP_005251033.1:p.Arg2115=
XM_005250978.2:c.5944C>A	XP_005251035.1:p.Arg1982=
XM_005250979.3:c.5932C>A	XP_005251036.1:p.Arg1978=
XM_005250980.3:c.5932C>A	XP_005251037.1:p.Arg1978=
XM_005250981.2:c.5890C>A	XP_005251038.1:p.Arg1964=
XM_005250982.2:c.5866C>A	XP_005251039.1:p.Arg1956=
XM_005250983.2:c.5848C>A	XP_005251040.1:p.Arg1950=
XM_005250984.3:c.5836C>A	XP_005251041.1:p.Arg1946=
XM_006716588.2:c.6013C>A	XP_006716651.1:p.Arg2005=
XM_006716589.2:c.5863C>A	XP_006716652.1:p.Arg1955=
XM_006716590.2:c.5863C>A	XP_006716653.1:p.Arg1955=
XM_011517130.1:c.5932C>A	XP_011515432.1:p.Arg1978=
XM_011517131.1:c.5848C>A	XP_011515433.1:p.Arg1950=
XM_011517132.1:c.4072-1617C>A	XP_011515434.1:n.4072-1617C>A
XM_005250976.4:c.6343C>A	XP_005251033.1:p.Arg2115=
XM_005250978.3:c.5944C>A	XP_005251035.1:p.Arg1982=
XM_005250979.4:c.5932C>A	XP_005251036.1:p.Arg1978=
XM_005250980.4:c.5932C>A	XP_005251037.1:p.Arg1978=
XM_005250981.3:c.5890C>A	XP_005251038.1:p.Arg1964=
XM_005250982.4:c.5866C>A	XP_005251039.1:p.Arg1956=
XM_005250984.5:c.5836C>A	XP_005251041.1:p.Arg1946=
XM_006716588.3:c.6013C>A	XP_006716651.1:p.Arg2005=
XM_006716590.3:c.5863C>A	XP_006716653.1:p.Arg1955=
XM_011517130.2:c.5932C>A	XP_011515432.1:p.Arg1978=
XM_011517131.2:c.5848C>A	XP_011515433.1:p.Arg1950=
XM_011517132.2:c.4072-1617C>A	XP_011515434.1:n.4072-1617C>A
NM_000445.5:c.5998C>A	NP_000436.2:p.Arg2000=
NM_201378.4:c.5875C>A MANE Plus Clinical	NP_958780.1:p.Arg1959=
NM_201379.3:c.5851C>A	NP_958781.1:p.Arg1951=
NM_201380.4:c.6328C>A	NP_958782.1:p.Arg2110=
NM_201381.3:c.5821C>A	NP_958783.1:p.Arg1941=
NM_201382.4:c.5917C>A	NP_958784.1:p.Arg1973=
NM_201383.3:c.5929C>A	NP_958785.1:p.Arg1977=
NM_201384.3:c.5917C>A MANE Select	NP_958786.1:p.Arg1973=