Canonical Allele Identifier: CA1826036998

Gene: PLEC

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13603A=	ENSP00000437303.2:p.Thr4535=
ENST00000685198.1:c.13522A=	ENSP00000510528.1:p.Thr4508=
ENST00000687971.1:c.13189A=	ENSP00000510788.1:p.Thr4397=
ENST00000693060.1:c.13402A=	ENSP00000510329.1:p.Thr4468=
ENST00000345136.8:c.13471A= MANE Select	ENSP00000344848.3:p.Thr4491=
ENST00000527303.2:c.10171A=	ENSP00000433982.2:p.Thr3391=
ENST00000322810.8:c.13882A=	ENSP00000323856.4:p.Thr4628=
ENST00000345136.7:c.13471A=	ENSP00000344848.3:p.Thr4491=
ENST00000354589.7:c.13471A=	ENSP00000346602.3:p.Thr4491=
ENST00000354958.6:c.13405A=	ENSP00000347044.2:p.Thr4469=
ENST00000356346.7:c.13429A= MANE Plus Clinical	ENSP00000348702.3:p.Thr4477=
ENST00000357649.6:c.13483A=	ENSP00000350277.2:p.Thr4495=
ENST00000398774.6:c.13375A=	ENSP00000381756.2:p.Thr4459=
ENST00000436759.6:c.13552A=	ENSP00000388180.2:p.Thr4518=
ENST00000527096.5:c.13540A=	ENSP00000434583.1:p.Thr4514=
NM_000445.4:c.13552A=	NP_000436.2:p.Thr4518=
NM_201378.3:c.13429A=	NP_958780.1:p.Thr4477=
NM_201379.2:c.13405A=	NP_958781.1:p.Thr4469=
NM_201380.3:c.13882A=	NP_958782.1:p.Thr4628=
NM_201381.2:c.13375A=	NP_958783.1:p.Thr4459=
NM_201382.3:c.13471A=	NP_958784.1:p.Thr4491=
NM_201383.2:c.13483A=	NP_958785.1:p.Thr4495=
NM_201384.2:c.13471A=	NP_958786.1:p.Thr4491=
XM_005250976.2:c.13897A=	XP_005251033.1:p.Thr4633=
XM_005250978.2:c.13498A=	XP_005251035.1:p.Thr4500=
XM_005250979.3:c.13486A=	XP_005251036.1:p.Thr4496=
XM_005250980.3:c.13486A=	XP_005251037.1:p.Thr4496=
XM_005250981.2:c.13444A=	XP_005251038.1:p.Thr4482=
XM_005250982.2:c.13420A=	XP_005251039.1:p.Thr4474=
XM_005250983.2:c.13402A=	XP_005251040.1:p.Thr4468=
XM_005250984.3:c.13390A=	XP_005251041.1:p.Thr4464=
XM_006716588.2:c.13567A=	XP_006716651.1:p.Thr4523=
XM_006716589.2:c.13417A=	XP_006716652.1:p.Thr4473=
XM_006716590.2:c.13417A=	XP_006716653.1:p.Thr4473=
XM_011517130.1:c.13486A=	XP_011515432.1:p.Thr4496=
XM_011517131.1:c.13402A=	XP_011515433.1:p.Thr4468=
XM_011517132.1:c.10117A=	XP_011515434.1:p.Thr3373=
XM_005250976.4:c.13897A=	XP_005251033.1:p.Thr4633=
XM_005250978.3:c.13498A=	XP_005251035.1:p.Thr4500=
XM_005250979.4:c.13486A=	XP_005251036.1:p.Thr4496=
XM_005250980.4:c.13486A=	XP_005251037.1:p.Thr4496=
XM_005250981.3:c.13444A=	XP_005251038.1:p.Thr4482=
XM_005250982.4:c.13420A=	XP_005251039.1:p.Thr4474=
XM_005250984.5:c.13390A=	XP_005251041.1:p.Thr4464=
XM_006716588.3:c.13567A=	XP_006716651.1:p.Thr4523=
XM_006716590.3:c.13417A=	XP_006716653.1:p.Thr4473=
XM_011517130.2:c.13486A=	XP_011515432.1:p.Thr4496=
XM_011517131.2:c.13402A=	XP_011515433.1:p.Thr4468=
XM_011517132.2:c.10117A=	XP_011515434.1:p.Thr3373=
NM_000445.5:c.13552A=	NP_000436.2:p.Thr4518=
NM_201378.4:c.13429A= MANE Plus Clinical	NP_958780.1:p.Thr4477=
NM_201379.3:c.13405A=	NP_958781.1:p.Thr4469=
NM_201380.4:c.13882A=	NP_958782.1:p.Thr4628=
NM_201381.3:c.13375A=	NP_958783.1:p.Thr4459=
NM_201382.4:c.13471A=	NP_958784.1:p.Thr4491=
NM_201383.3:c.13483A=	NP_958785.1:p.Thr4495=
NM_201384.3:c.13471A= MANE Select	NP_958786.1:p.Thr4491=