Canonical Allele Identifier: CA372475654

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990670G>T (hg19) ; chr8:g.143916502G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916502G>T , CM000670.2:g.143916502G>T	GRCh38
NC_000008.10:g.144990670G>T , CM000670.1:g.144990670G>T	GRCh37
NC_000008.9:g.145062658G>T	NCBI36
NG_012492.1:g.65244C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13451C>A	ENSP00000437303.2:p.Thr4484Asn
ENST00000685198.1:c.13370C>A	ENSP00000510528.1:p.Thr4457Asn
ENST00000687971.1:c.13037C>A	ENSP00000510788.1:p.Thr4346Asn
ENST00000693060.1:c.13250C>A	ENSP00000510329.1:p.Thr4417Asn
ENST00000345136.8:c.13319C>A MANE Select	ENSP00000344848.3:p.Thr4440Asn
ENST00000527303.2:c.10019C>A	ENSP00000433982.2:p.Thr3340Asn
ENST00000322810.8:c.13730C>A	ENSP00000323856.4:p.Thr4577Asn
ENST00000345136.7:c.13319C>A	ENSP00000344848.3:p.Thr4440Asn
ENST00000354589.7:c.13319C>A	ENSP00000346602.3:p.Thr4440Asn
ENST00000354958.6:c.13253C>A	ENSP00000347044.2:p.Thr4418Asn
ENST00000356346.7:c.13277C>A MANE Plus Clinical	ENSP00000348702.3:p.Thr4426Asn
ENST00000357649.6:c.13331C>A	ENSP00000350277.2:p.Thr4444Asn
ENST00000398774.6:c.13223C>A	ENSP00000381756.2:p.Thr4408Asn
ENST00000436759.6:c.13400C>A	ENSP00000388180.2:p.Thr4467Asn
ENST00000527096.5:c.13388C>A	ENSP00000434583.1:p.Thr4463Asn
NM_000445.4:c.13400C>A	NP_000436.2:p.Thr4467Asn
NM_201378.3:c.13277C>A	NP_958780.1:p.Thr4426Asn
NM_201379.2:c.13253C>A	NP_958781.1:p.Thr4418Asn
NM_201380.3:c.13730C>A	NP_958782.1:p.Thr4577Asn
NM_201381.2:c.13223C>A	NP_958783.1:p.Thr4408Asn
NM_201382.3:c.13319C>A	NP_958784.1:p.Thr4440Asn
NM_201383.2:c.13331C>A	NP_958785.1:p.Thr4444Asn
NM_201384.2:c.13319C>A	NP_958786.1:p.Thr4440Asn
XM_005250976.2:c.13745C>A	XP_005251033.1:p.Thr4582Asn
XM_005250978.2:c.13346C>A	XP_005251035.1:p.Thr4449Asn
XM_005250979.3:c.13334C>A	XP_005251036.1:p.Thr4445Asn
XM_005250980.3:c.13334C>A	XP_005251037.1:p.Thr4445Asn
XM_005250981.2:c.13292C>A	XP_005251038.1:p.Thr4431Asn
XM_005250982.2:c.13268C>A	XP_005251039.1:p.Thr4423Asn
XM_005250983.2:c.13250C>A	XP_005251040.1:p.Thr4417Asn
XM_005250984.3:c.13238C>A	XP_005251041.1:p.Thr4413Asn
XM_006716588.2:c.13415C>A	XP_006716651.1:p.Thr4472Asn
XM_006716589.2:c.13265C>A	XP_006716652.1:p.Thr4422Asn
XM_006716590.2:c.13265C>A	XP_006716653.1:p.Thr4422Asn
XM_011517130.1:c.13334C>A	XP_011515432.1:p.Thr4445Asn
XM_011517131.1:c.13250C>A	XP_011515433.1:p.Thr4417Asn
XM_011517132.1:c.9965C>A	XP_011515434.1:p.Thr3322Asn
XM_005250976.4:c.13745C>A	XP_005251033.1:p.Thr4582Asn
XM_005250978.3:c.13346C>A	XP_005251035.1:p.Thr4449Asn
XM_005250979.4:c.13334C>A	XP_005251036.1:p.Thr4445Asn
XM_005250980.4:c.13334C>A	XP_005251037.1:p.Thr4445Asn
XM_005250981.3:c.13292C>A	XP_005251038.1:p.Thr4431Asn
XM_005250982.4:c.13268C>A	XP_005251039.1:p.Thr4423Asn
XM_005250984.5:c.13238C>A	XP_005251041.1:p.Thr4413Asn
XM_006716588.3:c.13415C>A	XP_006716651.1:p.Thr4472Asn
XM_006716590.3:c.13265C>A	XP_006716653.1:p.Thr4422Asn
XM_011517130.2:c.13334C>A	XP_011515432.1:p.Thr4445Asn
XM_011517131.2:c.13250C>A	XP_011515433.1:p.Thr4417Asn
XM_011517132.2:c.9965C>A	XP_011515434.1:p.Thr3322Asn
NM_000445.5:c.13400C>A	NP_000436.2:p.Thr4467Asn
NM_201378.4:c.13277C>A MANE Plus Clinical	NP_958780.1:p.Thr4426Asn
NM_201379.3:c.13253C>A	NP_958781.1:p.Thr4418Asn
NM_201380.4:c.13730C>A	NP_958782.1:p.Thr4577Asn
NM_201381.3:c.13223C>A	NP_958783.1:p.Thr4408Asn
NM_201382.4:c.13319C>A	NP_958784.1:p.Thr4440Asn
NM_201383.3:c.13331C>A	NP_958785.1:p.Thr4444Asn
NM_201384.3:c.13319C>A MANE Select	NP_958786.1:p.Thr4440Asn