Canonical Allele Identifier: CA463525612

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916489-G-T
• MyVariant Identifiers: chr8:g.144990657G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916489G>T , CM000670.2:g.143916489G>T	GRCh38
NC_000008.10:g.144990657G>T , CM000670.1:g.144990657G>T	GRCh37
NC_000008.9:g.145062645G>T	NCBI36
NG_012492.1:g.65257C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13464C>A	ENSP00000437303.2:p.Ile4488=
ENST00000685198.1:c.13383C>A	ENSP00000510528.1:p.Ile4461=
ENST00000687971.1:c.13050C>A	ENSP00000510788.1:p.Ile4350=
ENST00000693060.1:c.13263C>A	ENSP00000510329.1:p.Ile4421=
ENST00000345136.8:c.13332C>A MANE Select	ENSP00000344848.3:p.Ile4444=
ENST00000527303.2:c.10032C>A	ENSP00000433982.2:p.Ile3344=
ENST00000322810.8:c.13743C>A	ENSP00000323856.4:p.Ile4581=
ENST00000345136.7:c.13332C>A	ENSP00000344848.3:p.Ile4444=
ENST00000354589.7:c.13332C>A	ENSP00000346602.3:p.Ile4444=
ENST00000354958.6:c.13266C>A	ENSP00000347044.2:p.Ile4422=
ENST00000356346.7:c.13290C>A MANE Plus Clinical	ENSP00000348702.3:p.Ile4430=
ENST00000357649.6:c.13344C>A	ENSP00000350277.2:p.Ile4448=
ENST00000398774.6:c.13236C>A	ENSP00000381756.2:p.Ile4412=
ENST00000436759.6:c.13413C>A	ENSP00000388180.2:p.Ile4471=
ENST00000527096.5:c.13401C>A	ENSP00000434583.1:p.Ile4467=
NM_000445.4:c.13413C>A	NP_000436.2:p.Ile4471=
NM_201378.3:c.13290C>A	NP_958780.1:p.Ile4430=
NM_201379.2:c.13266C>A	NP_958781.1:p.Ile4422=
NM_201380.3:c.13743C>A	NP_958782.1:p.Ile4581=
NM_201381.2:c.13236C>A	NP_958783.1:p.Ile4412=
NM_201382.3:c.13332C>A	NP_958784.1:p.Ile4444=
NM_201383.2:c.13344C>A	NP_958785.1:p.Ile4448=
NM_201384.2:c.13332C>A	NP_958786.1:p.Ile4444=
XM_005250976.2:c.13758C>A	XP_005251033.1:p.Ile4586=
XM_005250978.2:c.13359C>A	XP_005251035.1:p.Ile4453=
XM_005250979.3:c.13347C>A	XP_005251036.1:p.Ile4449=
XM_005250980.3:c.13347C>A	XP_005251037.1:p.Ile4449=
XM_005250981.2:c.13305C>A	XP_005251038.1:p.Ile4435=
XM_005250982.2:c.13281C>A	XP_005251039.1:p.Ile4427=
XM_005250983.2:c.13263C>A	XP_005251040.1:p.Ile4421=
XM_005250984.3:c.13251C>A	XP_005251041.1:p.Ile4417=
XM_006716588.2:c.13428C>A	XP_006716651.1:p.Ile4476=
XM_006716589.2:c.13278C>A	XP_006716652.1:p.Ile4426=
XM_006716590.2:c.13278C>A	XP_006716653.1:p.Ile4426=
XM_011517130.1:c.13347C>A	XP_011515432.1:p.Ile4449=
XM_011517131.1:c.13263C>A	XP_011515433.1:p.Ile4421=
XM_011517132.1:c.9978C>A	XP_011515434.1:p.Ile3326=
XM_005250976.4:c.13758C>A	XP_005251033.1:p.Ile4586=
XM_005250978.3:c.13359C>A	XP_005251035.1:p.Ile4453=
XM_005250979.4:c.13347C>A	XP_005251036.1:p.Ile4449=
XM_005250980.4:c.13347C>A	XP_005251037.1:p.Ile4449=
XM_005250981.3:c.13305C>A	XP_005251038.1:p.Ile4435=
XM_005250982.4:c.13281C>A	XP_005251039.1:p.Ile4427=
XM_005250984.5:c.13251C>A	XP_005251041.1:p.Ile4417=
XM_006716588.3:c.13428C>A	XP_006716651.1:p.Ile4476=
XM_006716590.3:c.13278C>A	XP_006716653.1:p.Ile4426=
XM_011517130.2:c.13347C>A	XP_011515432.1:p.Ile4449=
XM_011517131.2:c.13263C>A	XP_011515433.1:p.Ile4421=
XM_011517132.2:c.9978C>A	XP_011515434.1:p.Ile3326=
NM_000445.5:c.13413C>A	NP_000436.2:p.Ile4471=
NM_201378.4:c.13290C>A MANE Plus Clinical	NP_958780.1:p.Ile4430=
NM_201379.3:c.13266C>A	NP_958781.1:p.Ile4422=
NM_201380.4:c.13743C>A	NP_958782.1:p.Ile4581=
NM_201381.3:c.13236C>A	NP_958783.1:p.Ile4412=
NM_201382.4:c.13332C>A	NP_958784.1:p.Ile4444=
NM_201383.3:c.13344C>A	NP_958785.1:p.Ile4448=
NM_201384.3:c.13332C>A MANE Select	NP_958786.1:p.Ile4444=